ZHANG Jinª²An1£¬2, Maierª²HaBa1, YU Zhiª²Yun1, XIAO Wanª²Xia1, WANG Yu1

    1Department of Endocrinology, 2Clinical Research Center, First Hospital, Medical College, Xi¬ðan Jiaotong University, Xi¬ðan 710061, China

    ¡¾Abstract¡¿ AIM: To identify the presence of previously reported thyroglobulin (Tg) gene singleª²nucleotide polymorphism (SNP) in Chinese people and to investigate their potential relation to the aetiology of autoimmune thyroid disease (AITD). METHODS: In 228 patients with AITD [146 with Greaves¬ð disease (GD) and 82 with Hashimoto¬ðs thyroiditis (HT)] and 131 normal Chinese subjects, PCRª²RFLP was used to determine the SNPs of exon 10, 12 and 33. RESULTS: Four reported exonic SNPs of Tg genes E10SNP24 T/G, E10SNP158 T/C, E12SNP A/G and E33SNP C/T were confirmed in Chinese population. No differences in allele and genotype frequencies of four SNPs were observed between AITD cases and controls or when GD or HT was analyzed alone. Strong linkage disequilibrium (LD) between E10SNP24 and E10SNP158 (D¡ä=0.96) and a weak LD between E12SNP with E10SNP24 and E10SNP158 (D¡ä=0.73, D¡ä=0.74, respectively) were found. Furthermore, the combination of C allele of the exon 33 with three SNPs of exon10ª²12 cluster (Aª²Gª²C) was found to be associated with HT (OR=3.06, P<0.01). CONCLUSION: This study not only confirmed the common Tg gene variants in Chinese people, but also demonstrated that some SNPs within Tg gene played a causal role for HT. ......