Correlation of TSHR and CTLA-4 Single Nucleotide Polymorphisms with Graves Disease. (3rd September 2019)

• Record Type: Journal Article
• Authors: Sun, Weihua; Zhang, Xiaomei; Wu, Jing; Zhao, Wendi; Zhao, Shuangxia; Li, Minglong
• Other Names: Jeong Byung-Hoon Academic Editor.
• Is Part Of: International journal of genomics. Volume 2019(2019)
• Publication Date: 2019-09-03
• Subjects: Genomes -- Periodicals; Genomics -- Periodicals; Cytogenetics -- Periodicals; Genomics; Genome; Molecular Biology; Cytogenetics; Genomes; Genomics; Periodicals; 572.86
• DOI: 10.1155/2019/6982623
• Languages: English
• ISSNs: 2314-436X

Abstract

Abstract : This study was designed to explore the association between Graves disease (GD) and thyroid-stimulating hormone receptor (TSHR) and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) single nucleotide polymorphisms (SNPs). We studied a total of 1217 subjects from a Han population in northern Anhui province in China. Six SNPs within TSHR (rs179247, rs12101261, rs2284722, rs4903964, rs2300525, and rs17111394) and four SNPs within CTLA-4 (rs10197319, rs231726, rs231804, and rs1024161) were genotyped via a Taqman probe technique using a Fluidigm EP1 platform. The TSHR alleles rs179247-G, rs12101261-C, and rs4903964-G were negatively correlated with GD, whereas the rs2284722-A and rs17111394-C alleles were positively correlated with GD. Analyzing TSHR SNPs at rs179247, rs2284722, rs12101261, and rs4903964 yielded 8 different haplotypes. There were positive correlations between GD risk and the haplotypes AGTA and AATA (OR = 1.27, 95 % CI = 1.07 ‐ 1.50, P = 0.005 ;OR = 1.45, 95 % CI = 1.21 ‐ 1.75, P < 0.001, respectively). There were negative correlations between GD risk and the haplotype GGCG (OR = 0.56, 95 % CI = 0.46 ‐ 0.67, P < 0.001 ). With respect to haplotypes based on SNPs at the TSHR rs2300525 and rs17111394 loci, the CC haplotype was positively correlated with GD risk (OR = 1.32, 95 % CI = 1.08 ‐ 1.60, P = 0.006 ). Analyzing CTLA-4 SNPs at rs231804, rs1024161, and rs231726 yielded four haplotypes, of which AAA was positively correlated with GD risk (OR = 1.21, 95 % CI = 1.02 ‐ 1.43, P = 0.029 ). Polymorphisms at rs179247, rs12101261, rs2284722, rs4903964, and rs17111394 were associated with GD susceptibility. Haplotypes of both TSHR and CTLA-4 were additionally related to GD risk.