Association of the CTLA4 gene with Graves' disease in the Chinese Han population.
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.
Zhao
Shuang-Xia
SX
Ruijin Hospital, State Key Laboratory of Medical Genomics, Molecular Medicine Center, Shanghai Institute of Endocrinology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Pan
Chun-Ming
CM
Cao
Huang-Ming
HM
Han
Bing
B
Shi
Jing-Yi
JY
Liang
Jun
J
Gao
Guan-Qi
GQ
Peng
Yong-De
YD
Su
Qing
Q
Chen
Jia-Lun
JL
Zhao
Jia-Jun
JJ
Song
Huai-Dong
HD
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
D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human