title: Association of the CTLA4 gene with Graves' disease in the Chinese Han population.
abstract: To determine whether genetic heterogeneity exists in patients with Graves' disease (GD), the cytotoxic T-lymphocyte associated 4 (CTLA-4) gene, which is implicated a susceptibility gene for GD by considerable genetic and immunological evidence, was used for association analysis in a Chinese Han cohort recruited from various geographic regions. Our association study for the SNPs in the CTLA4 gene in 2640 GD patients and 2204 control subjects confirmed that CTLA4 is the susceptibility gene for GD in the Chinese Han population. Moreover, the logistic regression analysis in the combined Chinese Han cohort revealed that SNP rs231779 (allele frequencies p = 2.81x10(-9), OR = 1.35, and genotype distributions p = 2.75x10(-9), OR = 1.42) is likely the susceptibility variant for GD. Interestingly, the logistic regression analysis revealed that SNP rs35219727 may be the susceptibility variant to GD in the Shandong population; however, SNP, rs231779 in the CTLA4 gene probably independently confers GD susceptibility in the Xuzhou and southern China populations. These data suggest that the susceptibility variants of the CTLA4 gene varied between the different geographic populations with GD.
authors.affiliation: Ruijin Hospital, State Key Laboratory of Medical Genomics, Molecular Medicine Center, Shanghai Institute of Endocrinology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Shuang-Xia
authors.initials: SX
authors.lastname: Zhao
authors.forename: Chun-Ming
authors.initials: CM
authors.lastname: Pan
authors.forename: Huang-Ming
authors.initials: HM
authors.lastname: Cao
authors.forename: Bing
authors.initials: B
authors.lastname: Han
authors.forename: Jing-Yi
authors.initials: JY
authors.lastname: Shi
authors.forename: Jun
authors.initials: J
authors.lastname: Liang
authors.forename: Guan-Qi
authors.initials: GQ
authors.lastname: Gao
authors.forename: Yong-De
authors.initials: YD
authors.lastname: Peng
authors.forename: Qing
authors.initials: Q
authors.lastname: Su
authors.forename: Jia-Lun
authors.initials: JL
authors.lastname: Chen
authors.forename: Jia-Jun
authors.initials: JJ
authors.lastname: Zhao
authors.forename: Huai-Dong
authors.initials: HD
authors.lastname: Song
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D002681:China; D015331:Cohort Studies; D005189:False Positive Reactions; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005843:Geography; D006111:Graves Disease / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012044:Regression Analysis
chemical_list: D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human