Correlation between thyroglobulin gene polymorphisms and autoimmune thyroid disease

Abstract

Abstract. The aim of the present study was to detect thyroglobulin (Tg) gene polymorphisms in a Han Chinese population from the Northern regions of Henan province, China, and to study the correlation between Tg gene polymorphisms and autoimmune thyroid disease (AITD). A total of 270 patients with AITD and 135 healthy controls were enrolled. Genomic DNA was extracted and fluorescence polymerase chain reaction analysis was performed; high-resolution melting curve analysis (HRMA) was used to detect single-nucleotide polymorphisms (SNPs) in exons 10, 12 and 33 of the Tg gene. SNPs were then correlated with AITD. Han people from the Northern regions of Henan displayed four Tg exon SNPs: E10SNP24 T/G, E10SNP158 T/C, E12SNP A/G and E33SNP C/T. Several allele and genotype frequencies differed between the AITD group and the healthy control group (Tg E10SNP: Allele T, P<0.01; allele G, P<0.01; and Tg genotype GG, P<0.01; genotype TG, P<0.01. Tg E12SNP: Allele A, P<0.01; allele G, P<0.01; Tg genotype GG, P<0.01; genotype AG, P<0.01). A statistically significant difference in the frequency of selected Tg SNPs haplotypes was also present between AITD patients and healthy controls (P<0.05). There was no significant difference in haplotypes between various types of AITD (hypothyroidism, hyperthyroidism and Hashimoto's disease). The Tg SNP frequency distribution was significantly different between Han populations of the Northern regions of Henan province and the Xi'an regions of Shaanxi province. The results of the present study suggested that specific Tg gene alleles or genotypes were correlated with AITD; specific Tg SNP haplotypes were associated with hypothyroidism, hyperthyroidism and Hashimoto's disease, and the Tg SNP frequency distribution differed depending on the geographical location of the Han Chinese populations.

WITHDRAWN: Target region sequencing and gene polymorphism of Chinese Uyghur individuals with autoimmune thyroid diseases (AITDs)

“…TG is a 660-kDa glycoprotein, which accounts for about 75%-80% of the total thyroid protein [25,26] and deserves to be a major AITDs susceptibility gene. Earlier researches have recognized that TG SNPs were related to the development of AITDs [27][28][29][30][31]. In 2011, Mihaela Stefan et al revealed a new mechanism of interaction between the TG promoter SNP variant with viral infection to AITDs, which laid the foundation for further exploration [32].…”

Anti-N-methyl-D-aspartate receptor encephalitis with accompanying ovarian teratoma in female patients from East China: Clinical features, treatment, and prognostic outcomes

“…This condition is probably because the organ is genetically sensitive to autoimmunity in some individuals. Multiple studies performed in various populations found out certain single-nucleotide polymorphisms (SNPs) to be associated with thyroid autoimmunity or their comorbidities with other diseases [17,18]. All these observations suggested that the detection of anti-thyroid antibodies may be part of the autoimmunological profile triggered by patients with autoimmune diseases.…”

Fine mapping of thyroglobulin gene identifies two independent risk loci for Graves’ disease in Chinese Han population

“…The haploid allele combination analysis of TG polymorphic loci, E10SNP24-E10SNP158-E12SNP-E33SNP, was performed between the hyperthyroidism group and the healthy group. The disease-linked haplotypes G-T-A-C, G-T-G-C and T-C-G-C was significantly different (P<0.05) (13). In case control studies, several SNPs in exons 10, 12, and 33 were significantly associated with AITD (14) or with GD relapse (15).…”