Dataset Information

Correlation of TSHR and CTLA-4 Single Nucleotide Polymorphisms with Graves Disease.

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.

SUBMITTER: Sun W

PROVIDER: S-EPMC6745126 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Correlation of TSHR and CTLA-4 Single Nucleotide Polymorphisms with Graves Disease.

Sun Weihua W Zhang Xiaomei X Wu Jing J Zhao Wendi W Zhao Shuangxia S Li Minglong M

International journal of genomics 20190903

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 genotyp ...[more]

PMID: 31565653

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Project description:OBJECTIVE:The frequency distribution of A/G genotype at position-169 in promoter of FCRL3 gene (Fc receptor-like 3) was identified in Han population of northern Anhui Province. The correlation between single nucleotide polymorphism (SNP) at this site and genetic susceptibility of Graves disease (GD) was discussed. How the genotype at this position correlated to age, gender, severity of goiter, presence or absence of exophthalmos, levels of thyrotrophin receptor antibody (TRab), thyroid peroxidase antibody (TpoAb) and anti-thyroglobulin antibody (TgAb) and thyroid function was analyzed in details. METHOD:Peripheral venous blood was collected for DNA extraction. SNP at position-169 in the promoter of FCRL3 gene was determined by using PCR-RELP among 180 GD cases and 146 normal subjects. Thyroid function tests and antibody detection were performed. RESULTS:The frequency of GG genotype of position-169 in promoter of FCRL3 gene was higher in GD group than in control group. The frequency was 28.9% and 13.8%, respectively, showing significant differences in intergroup comparison (?(2)=6.618, P=0.046). The G allele frequency of GD group and control group was 49.4% and 40.4%, respectively, also showing significant differences between the groups (?(2)=5.308, P=0.021). GD cases with AA, AG and GG genotypes at position-169 in FCRL3 promoter had significant differences in serum level of TRAb (?(2)=7.319, P=0.026). However, no significant differences in gender, severity of goiter, TpoAb and TgAb level, presence or absence of exophthalmos and thyroid function (FT3, FT4, TSH) were found between the three genotypes (P>0.05). CONCLUSION:A/G SNP at position-169 in promoter of FCRL3 gene was correlated with susceptibility to GD among Han population in northern Anhui Province. G allele may contribute to the susceptibility to GD and correlate to positive TRAb result in thyroid diseases, but not to age of onset, gender, presence or absence of exophthalmos, thyroid function, TpoAb and TgAb level or severity of goiter.

Project description:BACKGROUND:FAS cell surface death receptor (FAS) gene has 2 common single nucleotide polymorphisms (SNPs) in its promoter, FAS-1377G?>?A (rs2234767) and FAS-670A?>?G (rs1800682). Several studies have investigated the role of these 2 polymorphisms in etiology of breast cancer in Asian population while the outcomes are inconsistent. To derive a more precise assessment of the association between breast cancer susceptibility with FAS gene promoter SNPs, a meta-analysis of published studies was performed. MATERIAL AND METHODS:We systematically searched PubMed, Embase, Web of Science, and the Chinese biomedical database (CBM) for papers published until November 1, 2018. Odds ratio (OR) with 95% confidential interval (95%CI) was conducted to evaluate the associations. Statistical analysis was conducted using Stata13.0 software. A total of 8 studies covering 2564 cases and 2633 controls were included. RESULTS:The integrated results suggest the following: For the FAS-1377G/A polymorphism, we only found significant associations for allele G vs allele A (OR?=?1.100, 95%CI?=?1.004-1.206, P?=?.040). After stratification by ethnicity, a significant association was observed only for the AA+GA vs GG genotype in East Asian populations (OR?=?1.177, 95% CI?=?1.010-1.371, P?=?.037). The association was not found in West Asian populations. For the FAS -670A/G polymorphism, no association with cancer risk was found in any comparison model. Sensitivity analysis suggests that the meta-analysis results obtained after excluding any single study were similar to the original ones, suggesting that the meta-analysis results were not significantly affected by any single study. CONCLUSION:These results indicated that FAS-1377G/A polymorphism may contribute to the increased breast cancer susceptibility and could be a promising target for cancer risk prediction. Further studies are needed to determine if the FAS gene confers a risk of breast cancer in other ethnic groups, such as Africans and Latin Americans.

Dataset Information

Correlation of TSHR and CTLA-4 Single Nucleotide Polymorphisms with Graves Disease.

Publications

Correlation of TSHR and CTLA-4 Single Nucleotide Polymorphisms with Graves Disease.

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