Association of thyroid-stimulating hormone receptor (TSHR) gene rs2268458 polymorphism with Graves disease and Hashimoto's thyroiditis / 中华地方病学杂志

ABSTRACT

Objective To investigate the association of single nucleotide polymorphisms in the rs2268458 locus of thyroid-stimulating hormone receptor (TSHR) gene with Graves disease (GD) and Hashimoto's thyroiditis (HT).Methods Part of the cases diagnosed through the epidemiological investigation project about thyroid diseases of Cangzhou City in 2016 was selected as the case group.The case group was subdivided into GD group and HT group according to the diagnosis.At the same time,healthy people with similar gender and age to the case group were selected as the control group.All subjects were from the Han nationality and were not related to each other.The genotypes and alleles of the TSHR gene rs2268458 (C/T) of all subjects were detected by restriction endonuclease (RFLP).And based on genotyping analysis of patient risk (odds ratio,OR) and 95％ confidence interval (95％CI).Results There were 87 cases in GD group [aged (43.17 ± 12.56) years old],including 64 females and 23 males.There were 31 cases in HT group [aged (44.41 ± 16.51) years old],including 26 females and 5 males.In the control group,there were 147 cases [age (40.26 ± 9.31) years old],including 80 females and 67 males.HardyWeinberg equilibrium test was performed on each group.The results showed that P ＞ 0.05,suggesting that the study samples were representative of the population.The results of genetic analysis showed that in females,the C allele frequency of GD patients was significantly higher than that of the control group [x2 =4.632,36.7％ (47/128) vs 25.0％ (40/160),P ＜ 0.05,OR =1.741,95％CI =1.048-2.891].The frequency distribution of each genotype (CC,CT,TT) at TSHR rs2268458 (T/C) was statistically different (x2 =6.104,P ＜ 0.05),and the frequency of TC ± CC combined genotype was significantly higher in GD patients than in controls (x2 =6.092,P ＜ 0.05,OR =2.333,95％ CI =1.184-4.598),however,there was no statistical difference between the HT group and the control group in genotype (CC,CT,TT) frequency distribution and alleles (P ＞ 0.05).In males,there was no statistically significant difference in genotype (CC,CT,TT) frequency distribution and allele between groups (P ＞ 0.05).Conclusion Among women in Cangzhou,the single nucleotide polymorphism of rs2268458 in TSHR gene is associated with the susceptibility to GD,but not to HT,and C genotype increases the risk of GD by dominant inheritance.