TSHR gene intron 1 region polymorphism and its relationship with Graves' disease
10.3760/cma.j.issn.1000-6699.2012.04.014
- VernacularTitle:TSHR基因内含子1区域多态性及其与Graves病的关系
- Author:
Ran WANG
;
Xiaomei ZHANG
;
Bingli LIU
;
Jingjing YANG
;
Xiaolei TENG
;
Weihua SUN
;
Wei LIU
;
Liqiong XUE
;
Huaidong SONG
- Publication Type:Journal Article
- Keywords:
Graves' disease;
TSHR gene intron 1;
TSH receptor antibodies;
Polymorphism,single nucleotide
- From:
Chinese Journal of Endocrinology and Metabolism
2012;28(4):306-310
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the association between the six single nucleotide polymorphisms ( SNP),named as rs179247,rsl2101261,rs2284722,rs4903964,rs2300525,rsl7111394 in the intron 1 of thyroid stimulating hormone receptor gene (TSHR) and Graves' disease (GD).MethodsThe genotypes of the six SNPs were genotyped by Taqman probe technique on Fluidigm EP1 platform in 618 GD patients and 646 control subjects.Meanwhile,TSH receptor antibodies (TRAb) of the patients were determined.ResultsAmong the six SNPs,five S NPs were strongly associated with GD,with the most signals at rs179247_G,rs12101261_C,rs4903964 _G (P=2.85×10-10,OR=1.73,95％CI1.46-2.05;P=1.74×10-10,OR=1.73,95％CI 1.46-2.05;P=2.24×10-10,OR=1.69,95％ CI 1.44-1.99 ).The results of logistic regression analysis indicated that rs12101261 and rs4903964 were main susceptibility loci of GD in the intron 1 of TSHR.rs179247_G,rs1210126 1_C,and rs4903964_G were associated with subset of the GD patients with positive TRAb (P=4.24× 10-13,p=5.48× 10-13,P =3.89×10-12 ).Conclusionrs179247,rs12101261,and rs4903964 in TSHR intron 1 were significantly associated with GD in the Chinese Han population from Bengbu city.rs12101261 and rs4903964 were the major susceptibility SNPs associated with GD.TSHR gene may play a main role of susceptibility gene in the subset of GD patients with persistent positive TRAb.
