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Association between PADI4 gene polymorphisms and anti-cyclic citrullinated peptide antibody positive rheumatoid arthritis in a large Chinese Han cohort

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机构: [1]Department of Rheumatology and Immunology, Peking University People’s Hospital, Beijing [2]Department of Radiology, Peking University People’s Hospital, Beijing [3]Department of Rheumatology, Xuanwu Hospital Capital Medical University, Beijing [4]Department of Rheumatology, China-Japan Friendship Hospital, Beijing, China.
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关键词: rheumatoid arthritis peptidyl-arginine-deiminase type IV single nucleotide polymorphism anti-cyclic citrullinated peptide antibody bone destruction

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Objective The present study was undertaken to investigate the association of peptidyl-arginine-deiminase type IV gene (PADI4) single nucleotide polymorphisms (SNPs) with rheumatoid arthritis (RA) susceptibility, and to determine whether there is any impact of PADI4 polymorphisms on RA subsets or phenotypes in a large Chinese Han cohort. Methods Two PADI4 SNPs (rs2240340 and rs1748033) were genotyped in 1216 Chinese Han RA patients and 1040 unaffected controls by TaqMan SNP Assays. Serum anti-CCP antibody and anti-PAD4 antibody levels were measured by ELISA. Bone destruction was scored by Sharp-van der Heijde scores (SHSs) of hands in 463 patients. Results The two SNPs rs2240340 and rs1748033 of PADI4 showed strong association with RA susceptibility (OR=1.23, 95% CI 1.09-1.38, p=6.66x10(-4); and OR=1.24, 95% CI 1.10-1.41, p=6.98x10(-4), respectively). RA risk genotypes of PADI4 were specifically associated with anti-CCP positive RA (rs2240340: 19=5.13x10(-6); rs1748033: p=2.97x10(-3), respectively). Furthermore, there was a trend association between PADI4 rs2240340 and radiographic severity, though it did not reach statistical significance (p=0.088). Conclusion Our data provide strong evidence that PADI4 polymorphisms are risk factors contributed to RA susceptibility, especially for anti-CCP positive RA, and may confer higher risk of RA radiographic severity in Chinese Han population.

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基金编号: 2010CB529104 2010DFB34000 81120108020 30901319 31270914 12040660366 7122196 JWSL431

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出版当年[2013]版:
大类 | 3 区 医学
小类 | 4 区 风湿病学
最新[2025]版:
大类 | 3 区 医学
小类 | 3 区 风湿病学
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出版当年[2012]版:
Q2 RHEUMATOLOGY
最新[2023]版:
Q2 RHEUMATOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2012版] 出版当年五年平均 出版前一年[2011版] 出版后一年[2013版]

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第一作者机构: [1]Department of Rheumatology and Immunology, Peking University People’s Hospital, Beijing
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通讯机构: [1]Department of Rheumatology and Immunology, Peking University People’s Hospital, Beijing
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