IRF5rs2004640 single nucleotide polymorphism is associated with susceptibility to rheumatoid arthritis in South Indian Tamils.
IRF5rs2004640 single nucleotide polymorphism is associated with susceptibility to rheumatoid arthritis in South Indian Tamils.
复制标题
IRF5rs2004640 单核苷酸多态性与南印度泰米尔人对类风湿性关节炎的易感性相关。
作者：
V. S. Negi;N. Muralidharan;S. Mehra;P. Devaraju;C. Mariaselvam;C. Mariaselvam;R. Gulati;S. Salah;C. Fortier;Dominique Charron;Rajagopal Krishnamoorthy;Ryad Tamouza
干扰素调节因子5（IRF 5）是一种潜在的转录因子，其基因多态性与多种自身免疫性疾病有关。我们的目的是研究IRF 5 rs 2004640基因多态性及其与南印度泰米尔类风湿关节炎（RA）患者的疾病易感性、疾病表型和治疗反应之间的关系。本研究对217例符合美国风湿学会（ACR）2010标准的RA患者和482例无自身免疫性疾病家族史的健康对照（HC）进行了研究。使用TaqMan 5'等位基因辨别测定进行IRF 5 rs 2004640基因分型。我们发现RA患者中IRF 5 rs 2004640 T等位基因[P < 0.0001，OR 3.25，95% CI 2.55-4.12]和TT基因型[P < 0.0001，OR 4.60，95% CI 3.23-6.57]的频率显著高于HC。未发现IRF 5 rs 2004640多态性与临床表现、自身抗体谱和治疗反应之间存在关联。IRF 5 rs 2004640 T（突变型）等位基因可能是南印度泰米尔人RA的易感因素，而G等位基因（野生型）可能是保护性的。
Polymorphism of interferon regulatory factor 5 (IRF5), a latent transcription factor gene has been associated with various auto-immune diseases. Our aim was to study the IRF5rs2004640 gene polymorphism and its association with disease susceptibility, disease phenotype and treatment response in South Indian Tamil patients with rheumatoid arthritis (RA).The study was conducted on 217 RA patients fulfilling the American College of Rheumatology (ACR) 2010 criteria and 482 healthy controls (HCs) without family history of autoimmune disease. The IRF5rs2004640 genotyping was performed using a TaqMan 5' allelic discrimination assay. We found that the IRF5rs2004640T allele [P < 0.0001, odds ratio (OR) 3.25, 95% confidence interval (CI) 2.55-4.12] and TT genotype (P < 0.0001, OR 4.60, 95% CI 3.23-6.57) were significantly more frequent in RA patients as compared with HCs. No association was found between IRF5rs2004640 polymorphism, clinical manifestations, autoantibody profile and treatment response. IRF5rs2004640 T (mutant) allele may be a susceptibility factor conferring risk for RA in South Indian Tamils, whereas G allele (wild type) may be protective.
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影响因子：
11.2
作者：
B. Barnes;M. Kellum;Karen E Pinder;J. Frisancho;P. Pitha
通讯作者：
B. Barnes;M. Kellum;Karen E Pinder;J. Frisancho;P. Pitha
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影响因子：
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Niewold, Timothy B.;Kelly, Jennifer A.;Flesch, Marie. H.;Espinoza, Luis R.;Harley, John B.;Crow, Mary K.
通讯作者：
Crow, Mary K.
影响因子：
3.5
作者：
Sigurdsson, Snaevar;Goering, Harald H. H.;Syvaenen, Ann-Christine
通讯作者：
Syvaenen, Ann-Christine
影响因子：
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作者：
Feng, Di;Stone, Rivka C.;Eloranta, Maija-Leena;Sangster-Guity, Niquiche;Nordmark, Gunnel;Sigurdsson, Snaevar;Wang, Chuan;Alm, Gunnar;Syvanen, Ann-Christine;Ronnblom, Lars;Barnes, Betsy J.
通讯作者：
Barnes, Betsy J.