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Scientific Literature, polymorphism
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Aarnisalo J, Treszl A, Svec P, Marttila J, Oling V, Simell O, Knip M, Korner A, Madacsy L, Vasarhelyi B, Ilonen J, Hermann R. Reduced CD4(+)T cell activation in children with type 1 diabetes carrying the PTPN22/Lyp 620Trp variant.
J. Autoimmun. 31: 13-21 (2008).
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Abanmi A, Al Harthi F, Zouman A, Kudwah A, Jamal MA, Arfin M, Tariq M. Association of interleukin-10 gene promoter polymorphisms in Saudi patients with vitiligo.
Dis. Markers 24: 51-57 (2008).
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Abanmi A, Harthi FA, Baqami RA, Assaf SA, Zouman A, Arfin M, Tariq M. Association of HLA loci alleles and antigens in Saudi patients with vitiligo.
Arch. Dermatol. Res. 298: 347-352 (2006).
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Abate N, Chandalia M, Di Paola R, Foster DW, Grundy SM, Trischitta V. Mechanisms of disease: ectonucleotide pyrophosphatase phosphodiesterase 1 as a 'gatekeeper' of insulin receptors.
Nat. Clin. Pract. Endocrinol. Metab. 2: 694-701 (2006).
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Abate N, Chandalia M, Satija P, Adams-Huet B, Grundy SM, Sandeep S, Radha V, Deepa R, Mohan V. ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes.
Diabetes 54: 1207-1213 (2005).
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Abazis-Stamboulieh D, Oikonomou P, Papadoulis N, Panayiotidis P, Vrakidou E, Tsezou A. Association of interleukin-1A, interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms with multiple myeloma.
Leuk. Lymphoma 48: 2196-2203 (2007).
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Abbas OM, Abdel-Rahman MH, Omar NA, Badran HM, Amir EM. Interleukin-10 promoter polymorphisms in hepatitis C patients with and without Schistosoma mansoni co-infection.
Liver Int. 29: 1422-1430 (2009).
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Abbas S, Brauch H, Chang-Claude J, Dunnebier T, Flesch-Janys D, Hamann U, Hein R, Justenhoven C, Salazar R. Polymorphisms in genes of the steroid receptor superfamily modify postmenopausal breast cancer risk associated with menopausal hormone therapy.
Int. J. Cancer Sep 8 [Epub ahead of print] (2009).
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Abbas S, Nieters A, Linseisen J, Slanger T, Kropp S, Mutschelknauss EJ, Flesch-Janys D, Chang-Claude J. Vitamin D receptor gene polymorphisms and haplotypes and postmenopausal breast cancer risk.
Breast Cancer Res. 10: R31 (2008).
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Abbott DW, Wilkins A, Asara JM, Cantley LC. The Crohn's disease protein, NOD2, requires RIP2 in order to induce ubiquitinylation of a novel site on NEMO.
Curr. Biol. 14: 2217-2227 (2004).
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Abboud N, Amin H, Ghazouani L, Khalifa SB, Khalafallah AB, Aded F, Almawi WY, Mahjoub T. Polymorphisms of human platelet alloantigens HPA-1 and HPA-2 associated with severe coronary artery disease.
Cardiovasc. Pathol. Jun 8 [Epub ahead of print] (2009).
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Abboud N, Ghazouani L, Ben-Hadj-Khalifa S, Anabi F, Added F, Khalfallah A, Nsiri B, Almawi WY, Mahjoub T. Human platelet alloantigens HPA-1, HPA-2, and HPA-3 polymorphisms associated with extent of severe coronary artery disease.
J. Thromb. Thrombolysis Jun 27 [Epub ahead of print] (2009).
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Abboud N, Ghazouani L, Saidi S, Ben-Hadj-Khalifa S, Addad F, Almawi WY, Mahjoub T. Association of PAI-1 4G/5G and -844G/A gene polymorphisms and changes in PAI-1/tissue plasminogen activator levels in myocardial infarction: a case-control study.
Genet. Test. Mol. Biomarkers Nov 23 [Epub ahead of print] (2009).
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Abdallah A, Sato H, Grutters JC, Veeraraghavan S, Lympany PA, Ruven HJ, van den Bosch JM, Wells AU, du Bois RM, Welsh KI. Inhibitor kappa B-alpha (IkappaB-alpha) promoter polymorphisms in UK and Dutch sarcoidosis.
Genes Immun. 4: 450-454 (2003).
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Abdallah AM, Renzoni EA, Anevlavis S, Lagan AL, Munkonge FM, Fonseca C, Black CM, Briggs D, Wells AU, Marshall SE, McHugh N, du Bois RM, Welsh KI. A polymorphism in the promoter region of the CD86 (B7.2) gene is associated with systemic sclerosis.
Int. J. Immunogenet. 33: 155-161 (2006).
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Abdelmalik N, Ruhe HG, Barwari K, van den Dool EJ, Meijers JC, Middeldorp S, Buller HR, Schene AH, Kamphuisen PW. Effect of the selective serotonin reuptake inhibitor paroxetine on platelet function is modified by a SLC6A4 serotonin transporter polymorphism.
J. Thromb. Haemost. 6: 2168-2174 (2008).
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Abdgawad M, Hellmark T, Gunnarsson L, Westman KW, Segelmark M. Increased neutrophil membrane expression and plasma level of proteinase 3 in systemic vasculitis are not a consequence of the - 564 A/G promotor polymorphism.
Clin. Exp. Immunol. 145: 63-70 (2006).
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Abdin AA, Hassanien MA, Ibrahim EA, El-Noeman SE. Modulating effect of atorvastatin on paraoxonase 1 activity in type 2 diabetic Egyptian patients with or without nephropathy.
J. Diabetes Complications Jun 22 [Epub ahead of print] (2009).
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Abe K, Klaften M, Narita A, Kimura T, Imai K, Kimura M, Rubio-Aliaga I, Wagner S, Jakob T, Hrabe de Angelis M. Genome-wide search for genes that modulate inflammatory arthritis caused by Ali18 mutation in mice.
Mamm. Genome 20: 152-161 (2009).
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Abe T, Iinuma Y, Ando M, Yokoyama T, Yamamoto T, Nakashima K, Takagi N, Baba H, Hasegawa Y, Shimokata K. NRAMP1 polymorphisms, susceptibility and clinical features of tuberculosis.
J. Infect. 46: 215-220 (2003).
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Abe T, Takino H, Yamasaki H, Ozaki M, Sera Y, Kondo H, Sakamaki H, Kawasaki E, Awata T, Yamaguchi Y, Eguchi K. CTLA4 gene polymorphism correlates with the mode of onset and presence of ICA512 Ab in Japanese type 1 diabetes.
Diabetes Res. Clin. Pract. 46: 169-175 (1999).
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Abed RE, Bourdon V, Huiart L, Eisinger F, Khelif A, Frenay M, Gesta P, Demange L, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Sauvan R, Soua Z, Sobol H. Molecular study of CEPBA in familial hematological malignancies.
Fam. Cancer 8: 581-584 (2009).
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Abel M, Cellier C, Kumar N, Cerf-Bensussan N, Schmitz J, Caillat-Zucman S. Adulthood-onset celiac disease is associated with intercellular adhesion molecule-1 (ICAM-1) gene polymorphism.
Hum. Immunol. 67: 612-617 (2006).
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Abelson AK, Johansson CM, Kozyrev SV, Kristjansdottir H, Gunnarsson I, Svenungsson E, Jonsen A, Lima G, Scherbarth HR, Gamron S, Allievi A, Palatnik SA, Alvarellos A, Paira S, Graf C, Guilleron C, Catoggio LJ, Prigione C, Battagliotti CG, et al. No evidence of association between genetic variants of the PDCD1 ligands and SLE.
Genes Immun. 8: 69-74 (2007).
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Aberle J, Fedderwitz I, Klages N, George E, Beil FU. Genetic variation in two proteins of the endocannabinoid system and their influence on body mass index and metabolism under low fat diet.
Horm. Metab. Res. 39: 395-397 (2007).
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Aberle J, Flitsch J, Beck NA, Mann O, Busch P, Peitsmeier P, Beil FU. Genetic variation may influence obesity only under conditions of diet: analysis of three candidate genes.
Mol. Genet. Metab. 95: 188-191 (2008).
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Aberle J, Hopfer I, Beil FU, Seedorf U. Association of peroxisome proliferator-activated receptor delta +294T/C with body mass index and interaction with peroxisome proliferator-activated receptor alpha L162V.
Int. J. Obes. (Lond.) 30: 1709-1713 (2006).
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Abifadel M, Rabes JP, Jambart S, Halaby G, Gannage-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydenian H, Junien C, Munnich A, Boileau C. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Hum. Mutat. 30: E682-E691 (2009).
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Abiru N, Kawasaki E, Eguch K. Current knowledge of Japanese type 1 diabetic syndrome.
Diabetes Metab. Res. Rev. 18: 357-366 (2002).
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Ablin JN, Cohen H, Buskila D. Mechanisms of disease: genetics of fibromyalgia.
Nat. Clin. Pract. Rheumatol. 2: 671-678 (2006).
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Abraham C, Cho JH. Functional consequences of NOD2 (CARD15) mutations.
Inflamm. Bowel Dis. 12: 641-650 (2006).
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Abraham C, Cho JH. IL-23 and autoimmunity: new insights into the pathogenesis of inflammatory bowel disease.
Annu. Rev. Med. 60: 97-110 (2009).
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Abraham E. Alterations in cell signaling in sepsis.
Clin. Infect. Dis. 41 Suppl. 7: S459-S464 (2005).
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Abraham J, Earl HM, Pharoah PD, Caldas C. Pharmacogenetics of cancer chemotherapy.
Biochim. Biophys. Acta 1766: 168-183 (2006).
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Abraham LJ, Du DC, Zahedi K, Dawkins RL, Whitehead AS. Haplotypic polymorphisms of the TNFB gene.
Immunogenetics 33: 50-53 (1991).
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Abraham LJ, French MA, Dawkins RL. Polymorphic MHC ancestral haplotypes affect the activity of tumour necrosis factor-alpha.
Clin. Exp. Immunol. 92: 14-18 (1993).
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Abraham LJ, Kroeger KM. Impact of the -308 TNF promoter polymorphism on the transcriptional regulation of the TNF gene: relevance to disease.
J. Leukoc. Biol. 66: 562-566 (1999).
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Abraham LJ, Leelayuwat C, Grimsley G, Degli-Esposti MA, Mann A, Zhang WJ, Christiansen FT, Dawkins RL. Sequence differences between HLA-B and TNF distinguish different MHC ancestral haplotypes.
Tissue Antigens 39: 117-121 (1992).
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Abrahamian H, Endler G, Exner M, Mauler H, Raith M, Endler L, Rumpold H, Gerdov M, Mannhalter C, Prager R, Irsigler K, Wagner OF. Association of low-grade inflammation with nephropathy in type 2 diabetic patients: role of elevated CRP-levels and 2 different gene-polymorphisms of proinflammatory cytokines.
Exp. Clin. Endocrinol. Diabetes 115: 38-41 (2007).
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Abrahamsson A, Gafvels M, Reihner E, Bjorkhem I, Einarsson C, Eggertsen G. Polymorphism in the coding part of the sterol 12alpha-hydroxylase gene does not explain the marked differences in the ratio of cholic acid and chenodeoxycholic acid in human bile.
Scand. J. Clin. Lab. Invest. 65: 595-600 (2005).
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Abrahamsson A, Krapivner S, Gustafsson U, Muhrbeck O, Eggertsen G, Johansson I, Persson I, Angelin B, Ingelman-Sundberg M, Bjorkhem I, Einarsson C, Hooft FM. Common polymorphisms in the CYP7A1 gene do not contribute to variation in rates of bile acid synthesis and plasma LDL cholesterol concentration.
Atherosclerosis 182: 37-45 (2005).
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Abreu MT. The pathogenesis of inflammatory bowel disease: translational implications for clinicians.
Curr. Gastroenterol. Rep. 4: 481-489 (2002).
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Abreu MT, Arditi M. Innate immunity and Toll-like receptors: clinical implications of basic science research.
J. Pediatr. 144: 421-429 (2004).
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Abreu MT, Fukata M, Arditi M. TLR signaling in the gut in health and disease.
J. Immunol. 174: 4453-4460 (2005).
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Acalovschi M, Tirziu S, Chiorean E, Krawczyk M, Grunhage F, Lammert F. Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls.
Lipids 44: 521-526 (2009).
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Acevedo F, Hammar H. Complement C3 proteins in psoriasis.
Br. J. Dermatol. 121: 329-335 (1989).
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Acevedo N, Vergara C, Gusmao L, Jimenez S, Martinez B, Mercado D, Caraballo L. The C-509T promoter polymorphism of the transforming growth factor beta-1 gene is associated with levels of total and specific IgE in a Colombian population.
Int. Arch. Allergy Immunol. 151: 237-246 (2009).
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Achenbach P, Lampasona V, Landherr U, Koczwara K, Krause S, Grallert H, Winkler C, Pfluger M, Illig T, Bonifacio E, Ziegler AG. Autoantibodies to zinc transporter 8 and SLC30A8 genotype stratify type 1 diabetes risk.
Diabetologia 52: 1881-1888 (2009).
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Achkar JP, Duerr R. The expanding universe of inflammatory bowel disease genetics.
Curr. Opin. Gastroenterol. 24: 429-434 (2008).
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Achyut BR, Ghoshal UC, Moorchung N, Mittal B. Association of Toll-like receptor-4 (Asp299Gly and Thr399Ileu) gene polymorphisms with gastritis and precancerous lesions.
Hum. Immunol. 68: 901-907 (2007).
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Achyut BR, Tripathi P, Ghoshal UC, Moorchung N, Mittal B. Interleukin-10 (-819 C/T) and tumor necrosis factor-alpha (-308 G/A) gene variants influence gastritis and lymphoid follicle development.
Dig. Dis. Sci. 53: 622-629 (2008).
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Acioli-Santos B, Segat L, Dhalia R, Brito CA, Braga-Neto UM, Marques ET, Crovella S. MBL2 gene polymorphisms protect against development of thrombocytopenia associated with severe dengue phenotype.
Hum. Immunol. 69: 122-128 (2008).
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Ackerman HC, Ribas G, Jallow M, Mott R, Neville M, Sisay-Joof F, Pinder M, Campbell RD, Kwiatkowski DP. Complex haplotypic structure of the central MHC region flanking TNF in a West African population.
Genes Immun. 4: 476-486 (2003).
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Ackert-Bicknell C, Rosen C. The genetics of PPARG and the skeleton.
PPAR Res. 2006: 93258 (2006).
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Actis GC, Pellicano R, Rizzetto M, Ayoubi M, Leone N, Tappero G, Pazienza P, Rosina F. Individually administered or co-prescribed thiopurines and mesalamines for inflammatory bowel disease.
World J. Gastroenterol. 15: 1420-1426 (2009).
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Adam B, Liebregts T, Holtmann G. Mechanisms of disease: genetics of functional gastrointestinal disorders - searching the genes that matter.
Nat. Clin. Pract. Gastroenterol. Hepatol. 4: 102-110 (2007).
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Adam R, Sturrock RD, Gracie JA. TLR4 mutations (Asp299Gly and Thr399Ile) are not associated with ankylosing spondylitis.
Ann. Rheum. Dis. 65: 1099-1101 (2006).
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Adamo KB, Dent R, Langefeld CD, Cox M, Williams K, Carrick KM, Stuart JS, Sundseth SS, Harper ME, McPherson R, Tesson F. Peroxisome proliferator-activated receptor gamma 2 and acyl-CoA synthetase 5 polymorphisms influence diet response.
Obesity (Silver Spring) 15: 1068-1075 (2007).
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Adamovic S, Amundsen SS, Lie BA, Gudjonsdottir AH, Ascher H, Ek J, van Heel DA, Nilsson S, Sollid LM, Torinsson Naluai A. Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families.
Genes Immun. 9: 364-367 (2008).
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Adamovic S, Amundsen SS, Lie BA, Hellqvist A, Gudjonsdottir AH, Ek J, Nilsson S, Wahlstrom J, Ascher H, Sollid LM, Naluai AT. Fine mapping study in Scandinavian families suggests association between coeliac disease and haplotypes in chromosome region 5q32.
Tissue Antigens 71: 27-34 (2008).
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Adams M, Lucock M, Stuart J, Fardell S, Baker K, Ng X. Preliminary evidence for involvement of the folate gene polymorphism 19bp deletion-DHFR in occurrence of autism.
Neurosci. Lett. 422: 24-29 (2007).
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Adamson KA, Cheetham TD, Kendall-Taylor P, Seckl JR, Pearce SH. The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus.
Int. J. Immunogenet. 34: 17-21 (2007).
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Adamzik M, Frey UH, Bitzer K, Jakob H, Baba HA, Schmieder RE, Schneider MP, Heusch G, Peters J, Siffert W. A novel-1364A/C aquaporin 5 gene promoter polymorphism influences the responses to salt loading of the renin-angiotensin-aldosterone system and of blood pressure in young healthy men.
Basic Res. Cardiol. 103: 598-610 (2008).
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Adamzik M, Frey UH, Rieman K, Sixt S, Beiderlinden M, Siffert W, Peters J. Insertion/deletion polymorphism in the promoter of NFKB1 influences severity but not mortality of acute respiratory distress syndrome.
Intensive Care Med. 33: 1199-1203 (2007).
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Adcock K, Hedberg C, Loggins J, Kruger TE, Baier RJ. The TNF-alpha -308, MCP-1 -2518 and TGF-beta1 +915 polymorphisms are not associated with the development of chronic lung disease in very low birth weight infants.
Genes Immun. 4: 420-426 (2003).
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Addo A, Le J, Li W, Aksentijevich I, Balow J Jr, Lee A, Gregersen PK, Kastner DL, Remmers EF. Analysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility.
Scand. J. Rheumatol. 34: 198-203 (2005).
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Adinolfi LE, Ingrosso D, Cesaro G, Cimmino A, D'Anto M, Capasso R, Zappia V, Ruggiero G. Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients.
Hepatology 41: 995-1003 (2005).
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Adjers K, Karjalainen J, Pessi T, Eklund C, Hurme M. Epistatic effect of TLR4 and IL4 genes on the risk of asthma in females.
Int. Arch. Allergy Immunol. 138: 251-256 (2005).
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Adorini L. Vitamin D receptor polymorphisms in primary biliary cirrhosis: a functional connection?
J. Hepatol. 50: 1071-1073 (2009).
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Afzal S, Jensen SA, Vainer B, Vogel U, Matsen JP, Sorensen JB, Andersen PK, Poulsen HE. MTHFR polymorphisms and 5-FU-based adjuvant chemotherapy in colorectal cancer.
Ann. Oncol. 20: 1660-1666 (2009).
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Agalliu I, Suuriniemi M, Prokunina-Olsson L, Johanneson B, Collins FS, Stanford JL, Ostrander EA. Evaluation of a variant in the transcription factor 7-like 2 (TCF7L2) gene and prostate cancer risk in a population-based study.
Prostate 68: 740-747 (2008).
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Agarwal K, Czaja AJ, Donaldson PT. A functional Fas promoter polymorphism is associated with a severe phenotype in type 1 autoimmune hepatitis characterized by early development of cirrhosis.
Tissue Antigens 69: 227-235 (2007).
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Agarwal K, Czaja AJ, Jones DE, Donaldson PT. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms and susceptibility to type 1 autoimmune hepatitis.
Hepatology 31: 49-53 (2000).
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Agarwal K, Jones DE, Daly AK, James OF, Vaidya B, Pearce S, Bassendine MF. CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis.
J. Hepatol. 32: 538-541 (2000).
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Agarwal SK, Gourh P, Shete S, Paz G, Divecha D, Reveille JD, Assassi S, Tan FK, Mayes MD, Arnett FC. Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.
J. Rheumatol. 36: 2715-2723 (2009).
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Aggarwal PK, Jain V, Srinivasan R, Jha V. Maternal EDN1 G5665T polymorphism influences circulating endothelin-1 levels and plays a role in determination of preeclampsia phenotype.
J. Hypertens. 27: 2044-2050 (2009).
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Aghamohammadi A, Foroughi F, Rezaei N, Dianat S, Solgi G, Amirzargar AA. Mannose-binding lectin polymorphisms in common variable immunodeficiency.
Clin. Exp. Med. 9: 285-290 (2009).
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Agnese DM, Calvano JE, Hahm SJ, Coyle SM, Corbett SA, Calvano SE, Lowry SF. Human Toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of Gram-negative infections.
J. Infect. Dis. 186: 1522-1525 (2002).
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Agrawal AA, Kapley A, Yeltiwar RK, Purohit HJ. Assessment of single nucleotide polymorphism at IL-1A+4845 and IL-1B+3954 as genetic susceptibility test for chronic periodontitis in Maharashtrian ethnicity.
J. Periodontol. 77: 1515-1521 (2006).
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Agrawal C, Raghav SK, Gupta B, Das RH, Chaturvedi VP, Goswami K, Das HR. Tumor necrosis factor-alpha microsatellite polymorphism association with rheumatoid arthritis in Indian patients.
Arch. Med. Res. 36: 555-559 (2005).
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Agrawal S, Dimitrova N, Prasthani N, Udayakumar K, Sailakshmi S, Sriram S, Manjusha N, Sengupta U. T2D-Db: an integrated platform to study the molecular basis of type 2 diabetes.
BMC Genomics 9: 320 (2008).
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Agrawal S, Khan F, Bharadwaj U. Human genetic variation studies and HLA class II loci.
Int. J. Immunogenet. 34: 247-252 (2007).
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Agrawal S, Srivastava R, Sharma B, Pandya S, Misra R, Aggarwal A. IL1RN*2 allele of IL-1receptor antagonist VNTR polymorphism is associated with susceptibility to anklyosing spondylitis in Indian patients.
Clin. Rheumatol. 27: 573-576 (2008).
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Agrawal SK, Kumar P, Rathi R, Sharma N, Das R, Prasad R, Narang A. UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyperbilirubinemia.
Pediatr. Res. 65: 675-680 (2009).
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Aguilar F, Gonzalez-Escribano MF, Sanchez-Roman J, Nunez-Roldan A. MCP-1 promoter polymorphism in Spanish patients with systemic lupus erythematosus.
Tissue Antigens 58: 335-338 (2001).
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Aguilar F, Nunez-Roldan A, Torres B, Wichmann I, Sanchez-Roman J, Gonzalez-Escribano MF. Chemokine receptor CCR2/CCR5 polymorphism in Spanish patients with systemic lupus erythematosus.
J. Rheumatol. 30: 1770-1774 (2003).
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Aguilar F, Torres B, Sanchez-Roman J, Nunez-Roldan A, Gonzalez-Escribano MF. CTLA4 polymorphism in Spanish patients with systemic lupus erythematosus.
Hum. Immunol. 64: 936-940 (2003).
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Aguilar-Martinez P, Bismuth M, Picot MC, Thelcide C, Pageaux GP, Blanc F, Blanc P, Schved JF, Larrey D. Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?
Gut 48: 836-842 (2001).
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Aguillon JC, Cruzat A, Aravena O, Salazar L, Llanos C, Cuchacovich M. Could single-nucleotide polymorphisms (SNPs) affecting the tumour necrosis factor promoter be considered as part of rheumatoid arthritis evolution?
Immunobiology 211: 75-84 (2006).
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Aguillon JC, Cruzat A, Cuenca J, Cuchacovich M. Tumor necrosis factor alpha genetic polymorphism as a risk factor in disease.
Rev. Med. Chil. 130: 1043-1050 (2002).
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Agundez JA. Polymorphisms of human N-acetyltransferases and cancer risk.
Curr. Drug Metab. 9: 520-531 (2008).
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Agundez JA, Martinez C, Garcia-Martin E, Ladero JM. Cytochrome P450 CYP2C9 polymorphism and NSAID-related acute gastrointestinal bleeding.
Gastroenterology 133: 2071-2072 (2007).
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Ahadi AM, Sadeghizadeh M, Houshmand M, Gharagoozli K, Banoei MM, Panahai MS. An A8296G mutation in the MT-TK gene of a patient with epilepsy - a disease-causing mutation or rare polymorphism?
Neurol. Neurochir. Pol. 42: 263-266 (2008).
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Ahern PP, Izcue A, Maloy KJ, Powrie F. The interleukin-23 axis in intestinal inflammation.
Immunol. Rev. 226: 147-159 (2008).
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Aherrahrou Z, Axtner SB, Kaczmarek PM, Jurat A, Korff S, Doehring LC, Weichenhan D, Katus HA, Ivandic BT. A locus on chromosome 7 determines dramatic up-regulation of osteopontin in dystrophic cardiac calcification in mice.
Am. J. Pathol. 164: 1379-1387 (2004).
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Ahluwalia M, Gotlieb V, Damerla V, Saif MW. Aggressive Burkitt-like lymphoma of colon in a patient with prior celiac disease.
Yale J. Biol. Med. 79: 173-175 (2006).
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Ahluwalia TS, Ahuja M, Rai TS, Kohli HS, Bhansali A, Sud K, Khullar M. ACE variants interact with the RAS pathway to confer risk and protection against type 2 diabetic nephropathy.
DNA Cell Biol. 28: 141-150 (2009).
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Ahluwalia TS, Ahuja M, Rai TS, Kohli HS, Sud K, Bhansali A, Khullar M. Endothelial nitric oxide synthase gene haplotypes and diabetic nephropathy among Asian Indians.
Mol. Cell. Biochem. 314: 9-17 (2008).
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Ahmad F, Kannan M, Biswas A, Saxena R. Impact of 789Ala/Ala genotype on quantitative type of von Willebrand disease.
Ann. Hematol. 88: 479-483 (2009).
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Ahmad F, Kannan M, Yadav V, Biswas A, Saxena R. Impact of thrombogenic mutations on clinical phenotypes of von Willebrand disease.
Clin. Appl. Thromb. Hemost. Dec 2 [Epub ahead of print] (2009).
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Ahmad N, Zakaria WR, Abdullah SA, Mohamed R. Characterization of clarithromycin resistance in Malaysian isolates of Helicobacter pylori.
World J. Gastroenterol. 15: 3161-3165 (2009).
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Ahmad T, Armuzzi A, Bunce M, Mulcahy-Hawes K, Marshall SE, Orchard TR, Crawshaw J, Large O, de Silva A, Cook JT, Barnardo M, Cullen S, Welsh KI, Jewell DP. The molecular classification of the clinical manifestations of Crohn's disease.
Gastroenterology 122: 854-866 (2002).
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Ahmad T, Armuzzi A, Neville M, Bunce M, Ling KL, Welsh KI, Marshall SE, Jewell DP. The contribution of human leucocyte antigen complex genes to disease phenotype in ulcerative colitis.
Tissue Antigens 62: 527-535 (2003).
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Ahmad T, Marshall SE, Jewell D. Genetics of inflammatory bowel disease: the role of the HLA complex.
World J. Gastroenterol. 12: 3628-3635 (2006).
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Ahmad T, Marshall SE, Mulcahy-Hawes K, Orchard T, Crawshaw J, Armuzzi A, Neville M, van Heel D, Barnardo M, Welsh KI, Jewell DP, Bunce M. High resolution MIC genotyping: design and application to the investigation of inflammatory bowel disease susceptibility.
Tissue Antigens 60: 164-179 (2002).
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Ahmad T, Wallace GR, James T, Neville M, Bunce M, Mulcahy-Hawes K, Armuzzi A, Crawshaw J, Fortune F, Walton R, Stanford MR, Welsh KI, Marshall SE, Jewell DP. Mapping the HLA association in Behcet's disease: a role for tumor necrosis factor polymorphisms?
Arthritis Rheum. 48: 807-813 (2003).
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Tissue Antigens 68: 432-438 (2006).
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Balas A, Aviles MJ, Alonso-Nieto M, Zarapuz L, Blanco L, Garcia-Sanchez F, Vicario JL. HLA-DQA1 introns 2 and 3 sequencing: DQA1 sequencing-based typing and characterization of a highly polymorphic microsatellite at intron 3 of DQA1*0505.
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Balas A, Bustamante L, Garcia-Sanchez F, Vicario JL. The new HLA-C allele, Cw*0220, shows a new polymorphism at amino acid position 169.
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Balas A, Bustamante L, Garcia-Sanchez F, Vicario JL. Sequencing of a novel HLA-DRB1*07 allele with a new polymorphism at amino acid position 21 (DRB1*0715).
Tissue Antigens 71: 179-180 (2008).
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Balas A, Bustamante L, Garcia-Sanchez F, Vicario JL. HLA-A*020115 and HLA-Cw*030203 show new synonymous mutations in exon 4.
Tissue Antigens 70: 340-341 (2007).
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Balas A, Bustamante L, García-Sanchez F, Vicario JL. New HLA polymorphism detection by molecular and serologic typing procedures. Complete coding region characterization of Cw*0525, Cw*0825, B*3950 and A*3219N alleles.
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Balas A, Garcia-Sanchez F, Vicario JL. Sequencing of a new HLA-C allele, HLA-Cw*0742, with a novel HLA polymorphism at exon 3.
Tissue Antigens 68: 530-531 (2006).
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Balas A, Sanchez-Gordo F, Garcia-Sanchez F, Prat I, Vicario JL. HLA-B*9523 increases the extremely high B*15-group polymorphism.
Tissue Antigens 69: 620-621 (2007).
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Balbi G, Ferrera F, Rizzi M, Piccioli P, Morabito A, Cardamone L, Ghio M, Palmisano GL, Carrara P, Pedemonte S, Sessarego M, De Angioletti M, Notaro R, Indiveri F, Pistillo MP. Association of -318 C/T and +49 A/G cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms with a clinical subset of Italian patients with systemic sclerosis.
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Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SF, Hakonarson H. Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.
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Ban Y, Taniyama M, Tozaki T, Yanagawa T, Yamada S, Maruyama T, Kasuga A, Tomita M, Ban Y. No association of type 1 diabetes with a microsatellite marker for CTLA-4 in a Japanese population.
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Ban Y, Tozaki T, Taniyama M, Nakano Y, Ban Y, Hirano T. Genomic polymorphism in the interferon-induced helicase (IFIH1) gene does not confer susceptibility to autoimmune thyroid disease in the Japanese population.
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Ban Y, Tozaki T, Taniyama M, Tomita M, Ban Y. The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese.
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Ban Y, Tozaki T, Tobe T, Ban Y, Jacobson EM, Concepcion ES, Tomer Y. The regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity: an association analysis in Caucasian and Japanese cohorts.
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Chen B, Fang J, Zhang W, Jin Z, Yu Z, Cai W. Detection of C1236T, G2677T/A, and C3435T polymorphism of MDR1 by amplification refractory mutation system PCR.
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Chen D, Jin G, Wang Y, Wang H, Liu H, Liu Y, Fan W, Ma H, Miao R, Hu Z, Sun W, Qian J, Jin L, Wei Q, Shen H, Huang W, Lu D. Genetic variants in peroxisome proliferator-activated receptor-gamma gene are associated with risk of lung cancer in a Chinese population.
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Chen D, Tian T, Wang H, Liu H, Hu Z, Wang Y, Liu Y, Ma H, Fan W, Miao R, Sun W, Wang Y, Qian J, Jin L, Wei Q, Shen H, Huang W, Lu D. Association of human aryl hydrocarbon receptor gene polymorphisms with risk of lung cancer among cigarette smokers in a Chinese population.
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Chen DY, Chen YM, Chen HH, Hsieh CW, Lin CC, Lan JL. Functional association of interleukin 18 gene -607 (C/A) promoter polymorphisms with disease course in Chinese patients with adult-onset Still's disease.
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Chen F, Wollmer MA, Hoerndli F, Munch G, Kuhla B, Rogaev EI, Tsolaki M, Papassotiropoulos A, Gotz J. Role for glyoxalase I in Alzheimer's disease.
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Chen FJ, Yu H, Fan F, Lu JX. Mitochondrial D-loop gene polymorphisms in the patients with type 2 diabetes mellitus.
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Chen GG, Ho RL, Wong J, Lee KF, Lai PB. Single nucleotide polymorphism in the promoter region of human alpha-fetoprotein (AFP) gene and its significance in hepatocellular carcinoma (HCC).
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Chen H, Cui B, Wang S, Zhao Z, Sun H, Gu X, Zhao Y, Li X, Ning G. The common variants of E-selectin gene in Graves' disease.
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Chen H, Toh TK, Szeverenyi I, Ong RT, Theng CT, McLean WH, Seielstad M, Lane EB. Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis.
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Chen H, Yang Z, Gibbs D, Yang X, Hau V, Zhao P, Ma X, Zeng J, Luo L, Pearson E, Constantine R, Kaminoh Y, Harmon J, Tong Z, Stratton CA, Cameron DJ, Tang S, Zhang K. Association of HTRA1 polymorphism and bilaterality in advanced age-related macular degeneration.
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Chen HH, Lee WJ, Fann CS, Bouchard C, Pan WH. Severe obesity is associated with novel single nucleotide polymorphisms of the ESR1 and PPARgamma locus in Han Chinese.
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Chen HL, Liu YJ, Su YN, Wang NY, Wu SH, Ni YH, Hsu HY, Wu TC, Chang MH. Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.
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Chen HL, Su HJ, Wang YJ, Guo YL, Liao PC, Lee CC. Interactive effects between CYP1A1 genotypes and environmental polychlorinated dibenzo-p-dioxins and dibenzofurans exposures on liver function profile.
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Chen HO, Chen ZJ, Qiu Y, Qiu XS, Cao XB, Liu Z, Li WG. Investigation on the association between estrogen beta receptor gene polymorphisms and the susceptibility of adolescent idiopathic scoliosis.
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Chen HY, Cui B, Wang S, Zhao ZF, Sun H, Zhao YJ, Li XY, Ning G. L-Selectin gene polymorphisms in Graves' disease.
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Chen J, Amos CI, Merriman KW, Wei Q, Sen S, Killary AM, Frazier ML. Genetic variants of p21 and p27 and pancreatic cancer risk in non-Hispanic whites: a case-control study.
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Chen J, Compton C, Cheng E, Fromowitz F, Viola MV. c-Ki-ras mutations in dysplastic fields and cancers in ulcerative colitis.
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Chen J, Giovannucci E, Kelsey K, Rimm EB, Stampfer MJ, Colditz GA, Spiegelman D, Willett WC, Hunter DJ. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer.
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Chen J, Giovannucci EL, Hunter DJ. MTHFR polymorphism, methyl-replete diets and the risk of colorectal carcinoma and adenoma among U.S. men and women: an example of gene-environment interactions in colorectal tumorigenesis.
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Chen J, Huang XF. Interleukin-6 promotes carcinogenesis through multiple signal pathways - comment on: clinical significance of interleukin-6 gene polymorphism and IL-6 serum level in pancreatic adenocarcinoma and chronic pancreatitis.
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Chen J, Killary AM, Sen S, Amos CI, Evans DB, Abbruzzese JL, Frazier ML. Polymorphisms of p21 and p27 jointly contribute to an earlier age at diagnosis of pancreatic cancer.
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Chen J, Kyte C, Valcin M, Chan W, Wetmur JG, Selhub J, Hunter DJ, Ma J. Polymorphisms in the one-carbon metabolic pathway, plasma folate levels and colorectal cancer in a prospective study.
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Chen J, Ma J, Stampfer MJ, Palomeque C, Selhub J, Hunter DJ. Linkage disequilibrium between the 677C>T and 1298A>C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer.
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Chen J, Xu Z, Ou X, Wang M, Yang X, Li Q. Mannose-binding lectin polymorphisms and recurrent respiratory tract infection in Chinese children.
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Chen JY, Wang CM, Lu SC, Chou YH, Luo SF. Association of apoptosis-related microsatellite polymorphisms on chromosome 1q in Taiwanese systemic lupus erythematosus patients.
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Chen JY, Wang CM, Ma CC, Chow YH, Luo SF. The -844C/T polymorphism in the Fas ligand promoter associates with Taiwanese SLE.
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Chen JY, Wang CM, Ma CC, Hsu LA, Ho HH, Wu YJ, Kuo SN, Wu J. A transmembrane polymorphism in FcgammaRIIb (FCGR2B) is associated with the production of anti-cyclic citrullinated peptide autoantibodies in Taiwanese RA.
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Chen JY, Wang CM, Ma CC, Luo SF, Edberg JC, Kimberly RP, Wu J. Association of a transmembrane polymorphism of Fcgamma receptor IIb (FCGR2B) with systemic lupus erythematosus in Taiwanese patients.
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Chen JY, Wang CM, Wu JM, Ho HH, Luo SF. Association of rheumatoid factor production with FcgammaRIIIa polymorphism in Taiwanese rheumatoid arthritis.
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Chen L, Ambrosone CB, Lee J, Sellers TA, Pow-Sang J, Park JY. Association between polymorphisms in the DNA repair genes XRCC1 and APE1, and the risk of prostate cancer in white and black Americans.
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Chen L, Brosnan CF. Regulation of immune response by P2X7 receptor.
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Chen L, Davey Smith G, Evans DM, Cox A, Lawlor DA, Donovan J, Yuan W, Day IN, Martin RM, Lane A, Rodriguez S, Davis M, Zuccolo L, Collin SM, Hamdy F, Neal D, Lewis SJ. Genetic variants in the vitamin D receptor are associated with advanced prostate cancer at diagnosis: findings from the prostate testing for cancer and treatment study and a systematic review.
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Chen L, Zhong M, Chen WV, Amos CI, Fan R. A genome-wide association scan for rheumatoid arthritis data by Hotelling's T2 tests.
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Chen LS, Wei JB, Zhou YC, Zhang S, Liang JL, Cao YF, Tang ZJ, Zhang XL, Gao F. Genetic alterations and expression of inhibitor of growth 1 in human sporadic colorectal cancer.
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Chen M, Peyrin-Biroulet L, Xia B, Rodriguez-Gueant RM, Bronowicki JP, Bigard MA, Gueant JL. Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China.
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Chen M, Xia B, Chen B, Guo Q, Li J, Ye M, Hu Z. N-acetyltransferase 2 slow acetylator genotype associated with adverse effects of sulphasalazine in the treatment of inflammatory bowel disease.
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Chen MP, Chung FM, Chang DM, Tsai JC, Huang HF, Shin SJ, Lee YJ. ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population.
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Chen PJ, Wei CC, Wang C, Chen FW, Hsu YH, Chang MS. Promoter analysis of interleukin 19.
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Chen PL, Fann CS, Chang CC, Wu IL, Chiu WY, Lin CY, Yang WS, Chang TC. Linkage of Graves' disease to the human leucocyte antigen region in the Chinese-Han population in Taiwan.
Clin. Endocrinol. (Oxf.) 66: 646-651 (2007).
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Chen PL, Fann CS, Chang CC, Wu IL, Chiu WY, Lin CY, Yang WS, Chang TC. Family-based association study of cytotoxic T-lymphocyte antigen-4 with susceptibility to Graves' disease in Han population of Taiwan.
Genes Immun. 9: 87-92 (2008).
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Chen Q, Kamboh MI. Complete DNA sequence variation in the apolipoprotein H (beta-glycoprotein I) gene and identification of informative SNPs.
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Chen QB, Fan LY, Zhong RQ, Tu XQ, Yuan Y, Zhu Y, Ye WM, Lu HQ, Han HX. A study on the relationship between interleukin-10 promoter polymorphism and autoimmune liver disease.
Zhonghua Gan Zang Bing Za Zhi 12: 356-358 (2004).
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Chen QX, Lv C, Huang LX, Cheng BL, Xie GH, Wu SJ, Fang XM. Genomic variations within DEFB1 are associated with the susceptibility to and the fatal outcome of severe sepsis in Chinese Han population.
Genes Immun. 8: 439-443 (2007).
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Chen QY, Nadell D, Zhang XY, Kukreja A, Huang YJ, Wise J, Svec F, Richards R, Friday KE, Vargas A, Gomez R, Chalew S, Lan MS, Tomer Y, Maclaren NK. The human leukocyte antigen HLA DRB3*020/DQA1*0501 haplotype is associated with Graves' disease in African Americans.
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Chen R, Fang M, Cai Q, Duan S, Lv K, Cheng N, Ren D, Shen J, He D, He L, Sun S. Tumor necrosis factor alpha -308 polymorphism is associated with rheumatoid arthritis in Han population of Eastern China.
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Chen RH, Chang CT, Chen HY, Chen WC, Tsai CH, Tsai FJ. Association between vitamin-D receptor gene FokI polymorphism and Graves' disease among Taiwanese Chinese.
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Chen RH, Chang CT, Wang TY, Chen CC, Tsai CH, Tsai FJ. Lack of association between interleukin-4 gene polymorphisms and autoimmune thyroid diseases amongst Taiwanese Chinese.
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Chen RH, Chang CT, Wang TY, Huang WL, Tsai CH, Tsai FJ. p53 codon 72 proline/arginine polymorphism and autoimmune thyroid diseases.
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Chen RH, Chen WC, Chang CT, Tsai CH, Tsai FJ. Interleukin-1-beta gene, but not the interleukin-1 receptor antagonist gene, is associated with Graves' disease.
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Chen RH, Chen WC, Chen CC, Tsai CH, Tsai FJ. Association between the TAP1 gene codon 637 polymorphism and Graves' disease.
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Chen RH, Chen WC, Wang TY, Tsai CH, Tsai FJ. Lack of association between pro-inflammatory cytokine (IL-6, IL-8 and TNF-alpha) gene polymorphisms and Graves' disease.
Int. J. Immunogenet. 32: 343-347 (2005).
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Chen RH, Wang TY, Chen WC, Tsai CH, Tsai FJ. Association between the TAP2 gene codon 665 polymorphism and Graves' disease.
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Chen S, Li W, Hu Q, Liu Z, Xu Y, Xu A. Polymorphism of HLA class I genes in Meizhou Han population of Guangdong, China.
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Chen S, Li Y, Li S, Yu C. A Val227Ala substitution in the peroxisome proliferator activated receptor alpha (PPAR alpha) gene associated with non-alcoholic fatty liver disease and decreased waist circumference and waist-to-hip ratio.
J. Gastroenterol. Hepatol. 23: 1415-1418 (2008).
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Chen S, Ren X, Liu Y, Hu Q, Hong W, Xu A. Human leukocyte antigen class I polymorphism in Miao, Bouyei, and Shui ethnic minorities of Guizhou, China.
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Chen SF, Lu XF, Yan WL, Huang JF, Gu DF. Variations in the calpain-10 gene are associated with the risk of type 2 diabetes and hypertension in northern Han Chinese population.
Chin. Med. J. (Engl.) 120: 2218-2223 (2007).
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Chen SH, Li YM, Yu CH, Jiang LL. The association of Val227Ala polymorphism of the peroxisome proliferator activated receptor alpha (PPAR alpha) gene with non-alcoholic fatty liver disease.
Zhonghua Gan Zang Bing Za Zhi 15: 64-65 (2007).
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Chen SY, Wan L, Huang YC, Sheu JJ, Lan YC, Lai CH, Lin CW, Chang JS, Tsai Y, Liu SP, Lin YJ, Tsai FJ. Interleukin-18 gene 105A/C genetic polymorphism is associated with the susceptibility of Kawasaki disease.
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Chen TJ, Ji CY, Zheng XY, Hu YH. Association of beta3 adrenergic receptor and peroxisome proliferator-activated receptor gamma 2 polymorphisms with insulin sensitivity: a twin study.
Biomed. Environ. Sci. 20: 99-105 (2007).
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Chen W, Ye W, Su P, Ding Y, Peng Y, Liang A, Huang D, Li G. The vitamin D receptor gene TruI polymorphisms and its effect on the detection of BsmI polymorphisms in Han nationality.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24: 338-340 (2007).
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Chen WC, Nie JS. Genetic polymorphism of MCP-1-2518, IL-8-251 and susceptibility to acute pancreatitis: a pilot study in population of Suzhou, China.
World J. Gastroenterol. 14: 5744-5748 (2008).
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Chen WJ, Qiu Y, Cao XB, Qiu XS, Chen ZJ, Chen HO. Vitamin D receptor gene polymorphisms: no association with low bone mineral density in adolescent idiopathic scoliosis girls.
Stud. Health Technol. Inform. 140: 323 (2008).
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Chen WJ, Qiu Y, Zhu F, Zhu ZZ, Sun X, Liu Z, Chen ZJ. Vitamin D receptor gene polymorphisms: no association with low bone mineral density in adolescent idiopathic scoliosis girls.
Zhonghua Wai Ke Za Zhi 46: 1183-1186 (2008).
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Chen WV, Amos CI, Etzel CJ, Shete S, Gregersen PK. Comparison of genome-wide single-nucleotide polymorphism linkage analyses in Caucasian and Hispanic NARAC families.
BMC Proc. 1 Suppl. 1: S97 (2007).
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Chen X, Guan J, Song Y, Chen P, Zheng H, Tang C, Wu Q. IGF-I (CA) repeat polymorphisms and risk of cancer: a meta-analysis.
J. Hum. Genet. 53: 227-238 (2008).
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Chen X, Katoh Y, Nakamura K, Oyama N, Kaneko F, Endo Y, Fujita T, Nishida T, Mizuki N. Single nucleotide polymorphisms of Ficolin 2 gene in Behcet's disease.
J. Dermatol. Sci. 43: 201-205 (2006).
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Chen X, Liu CT, Zhang M, Zhang H. A forest-based approach to identifying gene and gene gene interactions.
Proc. Natl. Acad. Sci. U.S.A. 104: 19199-19203 (2007).
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Chen X, Wang H, Xie W, Liang R, Wei Z, Zhi L, Zhang X, Hao B, Zhong S, Zhou G, Zhang L, Gao X, Zhu Y, He F. Association of CYP1A2 genetic polymorphisms with hepatocellular carcinoma susceptibility: a case-control study in a high-risk region of China.
Pharmacogenet. Genomics 16: 219-227 (2006).
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Chen X, Wang L, Zhi L, Zhou G, Wang H, Zhang X, Hao B, Zhu Y, Cheng Z, He F. The G-113A polymorphism in CYP1A2 affects the caffeine metabolic ratio in a Chinese population.
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