Association of TSHR gene intron 1 and 4p14 single-nucleotide polymorphisms and gene-gene interactions with Graves′disease

Jing WU; Weihua Sun; Xiaomei Zhang; Wendi Zhao; Wanyu GE; Shuangxia Zhao; Zhaoming Shi; Xiaolei HU

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Association of TSHR gene intron 1 and 4p14 single-nucleotide polymorphisms and gene-gene interactions with Graves′disease

VernacularTitle:TSHR内含子1区段与4 p14区段单核苷酸多态性及基因交互作用与Graves病相关性研究
Author: Jing WU ; Weihua SUN ; Xiaomei ZHANG ; Wendi ZHAO ; Wanyu GE ; Shuangxia ZHAO ; Zhaoming SHI ; Xiaolei HU
Publication Type:Journal Article
Keywords: Graves disease; TSHR gene intron 1; 4p14; Polymorphism,single nucleotide
From: Chinese Journal of Endocrinology and Metabolism 2016;32(4):292-297
CountryChina
Language:Chinese
Abstract: Objective To identify the association of thyroid stimulating hormone receptor ( TSHR ) gene intron 1 susceptible loci and 4p14 susceptible locus rs6832151 polymorphisms with Graves’ disease ( GD) in Han Chinese population in Bengbu, Anhui, China. The gene-gene interaction among TSHR intron 1 susceptible loci and 4p14 susceptible locus rs6832151 was also investigated. Methods The genotypes of the single-nucleotide polymorphisms ( SNPs) were analyzed by Taqman probe technique on Fluidigm EP1 platform in 611 patients with GD and 555 control subjects, and linkage analysis, correlation analysis, haplotype analysis, and epistasis analysis with them were performed. Results Six SNPs in two candidate genes(rs12101261, rs4903964,rs179247, rs2284722 and rs17111394 in TSHR, rs6832151 in 4p14) were associated with GD (all P<0. 05). The frequency distributions of haplotypes of SNPs in TSHR intron 1 ( AGTA, GGCG, AATA, and CC) were significantly different between GD and control groups(all P<0. 01). There existed the interactions between rs179247 and rs12101261 in TSHR(P=0. 001) and among rs179247(TSHR),rs4903964(TSHR) and rs6832151(4p14) (P=0. 001). Conclusions rs683215 in 14p14 and rs12101261, rs4903964, rs179247, rs2284722 and rs17111394 in TSHR intron 1 were susceptible loci of GD in the Chinese Han population from Bengbu. The haplotypes in TSHR intron 1 were associated with GD. There exists the interaction between the SNPs in TSHR and 4p14,which may change the risk of GD.