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LCE3C_LCE3B 缺失与中国汉族人群的类风湿关节炎和系统性红斑狼疮相关。

Deletion of LCE3C_LCE3B is associated with rheumatoid arthritis and systemic lupus erythematosus in the Chinese Han population.

机构信息

Department of Rheumatology and Immunology, Peking University People’s Hospital, Beijing, China.

出版信息

Ann Rheum Dis. 2011 Sep;70(9):1648-51. doi: 10.1136/ard.2010.148072. Epub 2011 May 30.

Abstract

OBJECTIVES

The deletion of LCE3C_LCE3B confers susceptibility to psoriasis and rheumatoid arthritis (RA) in Caucasians. The aim of this study was to investigate the variant involvement in RA in the Chinese Han population and to further explore its potential role in the susceptibility to systemic lupus erythematosus (SLE).

METHODS

LCE3C_LCE3B-del was genotyped in 898 patients with RA and 681 healthy controls. Two single nucleotide polymorphisms (SNPs, rs4112788 and rs4085613) in strong linkage disequilibrium with LCE3C_LCE3B-del were then genotyped in patients with RA (n=1222), SLE (n=870) and healthy controls (n=1031).

RESULTS

The deletion of LCE3C_LCE3B and SNPs rs4112788 and rs4085613 showed an association with RA (allele analysis: p=7.72×10(-4), OR 1.28, 95% CI 1.11 to 1.47; p=6.39×10(-4), OR 1.23, 95% CI 1.09 to 1.38; and p=5.38×10(-4), OR 1.23, 95% CI 1.10 to 1.39, respectively). The two SNPs were also significantly associated with SLE (allele analysis: p=7.68×10(-3), OR 1.19, 95% CI 1.05 to 1.36 and p=5.30×10(-3), OR 1.20, 95% CI 1.06 to 1.37).

CONCLUSIONS

This study provides evidence for an association between LCE3C_LCE3B-del and RA in non-Caucasian populations, and SNPs rs4112788 and rs4085613 tagging LCE3C_LCE3B-del were novel susceptibility factors for SLE.

摘要

目的

LCE3C_LCE3B 的缺失赋予了白种人易患银屑病和类风湿关节炎(RA)的易感性。本研究旨在探讨该变异在汉族人群中的 RA 发病机制中的作用,并进一步探讨其在系统性红斑狼疮(SLE)易感性中的潜在作用。

方法

对 898 例 RA 患者和 681 名健康对照者进行 LCE3C_LCE3B-del 基因分型。然后对 RA 患者(n=1222)、SLE 患者(n=870)和健康对照者(n=1031)中与 LCE3C_LCE3B-del 强连锁不平衡的两个单核苷酸多态性(SNP,rs4112788 和 rs4085613)进行基因分型。

结果

LCE3C_LCE3B 缺失和 SNP rs4112788 和 rs4085613 与 RA 相关(等位基因分析:p=7.72×10(-4),OR 1.28,95%CI 1.11 至 1.47;p=6.39×10(-4),OR 1.23,95%CI 1.09 至 1.38;p=5.38×10(-4),OR 1.23,95%CI 1.10 至 1.39)。这两个 SNP 也与 SLE 显著相关(等位基因分析:p=7.68×10(-3),OR 1.19,95%CI 1.05 至 1.36;p=5.30×10(-3),OR 1.20,95%CI 1.06 至 1.37)。

结论

本研究为非白种人群中 LCE3C_LCE3B-del 与 RA 之间的关联提供了证据,并且标记 LCE3C_LCE3B-del 的 SNP rs4112788 和 rs4085613 是 SLE 的新的易感因素。

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