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

被引：60

作者：

Maiti, Amit K. ^{[1
]}

Kim-Howard, Xana ^{[1
]}

Viswanathan, Parvathi ^{[1
]}

Guillen, Laura ^{[2
]}

Qian, Xiaoxia ^{[3
]}

Rojas-Villarraga, Adriana ^{[4
]}

Sun, Celi ^{[1
]}

Canas, Carlos ^{[5
]}

Tobon, Gabriel J. ^{[5
]}

Matsuda, Koichi ^{[6
]}

Shen, Nan ^{[3
]}

Chernavsky, Alejandra C. ^{[2
]}

Anaya, Juan-Manuel ^{[4
]}

Nath, Swapan K. ^{[1
]}

机构：

[1] Oklahoma Med Res Fdn, Genet Epidemiol Unit, Arthrit & Immunol Res Program, Oklahoma City, OK 73104 USA

[2] Univ Buenos Aires, Immunogenet Lab, Hosp Clin Jose de San Martin, Buenos Aires, DF, Argentina

[3] Jiao Tong Univ, Shanghai Inst Rheumatol, Renji Hosp, Sch Med, Shanghai 200030, Peoples R China

[4] Univ Rosario, Ctr Autoimmune Dis Res CREA, Corp Invest Biol, Bogota, Colombia

[5] Fdn Valle Lili, Rheumatol Unit, Cali, Colombia

[6] Univ Tokyo, Inst Med Sci, Mol Med Lab, Ctr Human Genome, Tokyo, Japan

来源：

RHEUMATOLOGY | 2010年 / 49卷 / 07期

基金：

美国国家卫生研究院;

关键词：

CD226; Autoimmunity; Latin-America; Asia; SYSTEMIC-LUPUS-ERYTHEMATOSUS; GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISM; TYROSINE-PHOSPHATASE PTPN22; RHEUMATOID-ARTHRITIS; REVISED CRITERIA; FUNCTIONAL POLYMORPHISM; JAPANESE POPULATION; GENETIC-VARIANTS; CLASSIFICATION;

D O I：

10.1093/rheumatology/kep470

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1239 / 1244

页数：6

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