The single nucleotide polymorphisms in the intron 1 of TSHR gene were associated with Graves' disease
10.3760/cma.j.issn.1000-6699.2012.07.010
- VernacularTitle:TSHR基因内含子1区域单核苷酸多态性与Graves病的相关性研究
- Author:
Yuanyuan SUN
;
Wenhua DU
;
Cuige LIANG
;
Xiaomeng LIU
;
Shoujie LI
;
Wenxia LI
;
Qingyu DONG
;
Yueli WANG
;
Bingli LIU
;
Huaidong SONG
;
Guanqi GAO
- Publication Type:Journal Article
- Keywords:
Graves' disease;
TSHR;
Intron;
Polymorphisms,single nucleotide;
TSH receptor antibody
- From:
Chinese Journal of Endocrinology and Metabolism
2012;28(7):565-569
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the association between single nucleotide polymorphisms in the intron 1 of thyroid stimnulating hormone receptor gene (TSHR) and Graves' disease (GD) in the Chinese Han population from Linyi city,Shandong Province.Methods A total of 1759 GD patients and 1740 control subjects were recruited for genotyping in TSHR intron 1 with genome-wide association study (GWAS) and Taqman probe technique.At the same time,serum thyroid hormone and TSH receptor antibody (TRAb) levels of patients were determined.Results Five SNPs were selected for further replication.The rs12101261 _T was significantly associated with GD risk ( OR=1.257,95％CI 1.137-1.390,P =8.23 × 10-6 ). Logistic regression identified that rs12101261 was an independent susceptibility locus of GD ( P=1.61 × 10-3 ).Furthermore,rs12101261 _T was strongly associated with GD ( OR =1.317,95％ CI 1.171-1.481,P=4.14× 10-4 ) in TRAb positive patients,but no association in TRAb negative patients ( OR=1.056,95％ CI 0.892-1.251,P=0.524 ).Serum TRAb concentration showed remarkable difference among three genotype groups of rs12101261.Conclusions Five SNPs in TSHR intron 1 are associated with GD.rs12101261 contributes to increased GD risk independently and is associated with serum TRAb level.
