CD40 C/T-1 and CTLA-4 A/G49 SNPs are associated with autoimmune thyroid diseases in the Chinese population

• DOI: 10.1007/s12020-011-9510-1
• Publication Date: 2011-08-24T09:40:32Z
• Authors: Jing Yang; Qiu Qin; Ni Yan; Yuan-feng Zhu; Cui Li; Xiang-ju Yang; Xuan Wang; Madhu Pandey; Peng Hou; Jin-an Zhang
• Keywords: SNP

This study was to investigate whether the common polymorphisms of CD40 and CTLA4 genes confer susceptibility to AITD in the Chinese population. A set of unrelated subjects including 303 GD patients, 208 HT patients, and 215 matched healthy controls were recruited. SNPs were genotyped by the method of PCR-RFLP. (1) As for CD40 C/T(-1) SNP, only a significant difference was found in allele frequencies between GD and control groups (P = 0.033). (2) On the part of CTLA-4 A/G(49) SNP, significant differences were found in genotype and allele frequencies between GD and control groups (P = 7.0 × 10(-5) and P = 0.002, respectively), and similar results were found between HT and control groups (P = 0.015 and P = 0.003, respectively). (3) The logistic regression analysis showed there was no interaction between CD40 and CTLA4 genotypes (P = 0.262). These results indicate that both CTLA-4 A/G(49) and CD40 C/T(-1) SNPs are associated with genetic susceptibility of GD, and CTLA-4 A/G(49) is also associated with HT.