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CD226 上的非同义变异(Gly307Ser)与多种自身免疫性疾病的易感性有关。

Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune diseases.

机构信息

Genetic Epidemiology Unit, Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.

出版信息

Rheumatology (Oxford). 2010 Jul;49(7):1239-44. doi: 10.1093/rheumatology/kep470. Epub 2010 Mar 24.

DOI:10.1093/rheumatology/kep470
PMID:20338887
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2909799/
Abstract

OBJECTIVES

Recently, a non-synonymous (Gly307Ser) variant, rs763361, in the CD226 gene was shown to be associated with multiple autoimmune diseases (ADs) in European Caucasian populations. However, shared autoimmunity with CD226 has not been evaluated in non-European populations. The aim of the present study is to assess the association of this single nucleotide polymorphism (SNP) with ADs in non-European populations.

METHODS

To replicate this association in non-European populations, we evaluated case-control association between rs763361 and coeliac disease (CED) samples from Argentina; SLE, RA, type-1 diabetes (T1D) and primary SS (pSS) from Colombia; and SLE samples from China and Japan. We genotyped rs763361 and evaluated its genetic association with multiple ADs, using chi(2)-test. For each association, odds ratio (OR) and 95% CI were calculated.

RESULTS

We show that rs763361 is significantly associated with Argentinean CED (P = 0.0009, OR = 1.60). We also observed a trend of possible association with Chinese SLE (P = 0.01, OR = 1.19), RA (P = 0.047, OR = 1.25), SLE (P = 0.0899, OR = 1.24) and pSS (P = 0.09, OR = 1.33) in Colombians. Meta-analyses for SLE (using our three populations) and T1D (our population and three published populations) yielded significant association with rs763361, P = 0.009 (OR = 1.16) and P = 1.1.46 x 10(-9) (OR = 1.14), respectively.

CONCLUSIONS

Our results demonstrate that the coding variant rs763361 in CD226 gene is associated with multiple ADs in non-European populations.

摘要

目的

最近,CD226 基因中的一个非同义(Gly307Ser)变体 rs763361 被证明与欧洲白种人群的多种自身免疫性疾病(AD)相关。然而,在非欧洲人群中,尚未评估与 CD226 的共同自身免疫性。本研究的目的是评估该单核苷酸多态性(SNP)与非欧洲人群 AD 之间的关联。

方法

为了在非欧洲人群中复制这种关联,我们评估了阿根廷的乳糜泻(CED)样本、哥伦比亚的 SLE、RA、1 型糖尿病(T1D)和原发性 SS(pSS)以及中国和日本的 SLE 样本中 rs763361 与病例对照的关联。我们对 rs763361 进行了基因分型,并使用卡方检验评估了其与多种 AD 的遗传关联。对于每种关联,计算了比值比(OR)和 95%置信区间(CI)。

结果

我们表明 rs763361 与阿根廷的 CED 显著相关(P = 0.0009,OR = 1.60)。我们还观察到中国的 SLE(P = 0.01,OR = 1.19)、RA(P = 0.047,OR = 1.25)、SLE(P = 0.0899,OR = 1.24)和 pSS(P = 0.09,OR = 1.33)之间存在可能的关联趋势。我们的三个群体)和 T1D(我们的群体和三个已发表的群体)对 rs763361 的 Meta 分析产生了显著关联,P = 0.009(OR = 1.16)和 P = 1.146x10(-9)(OR = 1.14)。

结论

我们的结果表明,CD226 基因中的编码变异 rs763361 与非欧洲人群中的多种 AD 相关。

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