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IL-7R gene polymorphisms among patients with rheumatoid arthritis: A case-control study.

ABSTRACT: BACKGROUND:Rheumatoid arthritis (RA) is the most common inflammatory disease which refers to bony erosions and joint destruction largely caused by genetic factors. Our study aimed to explore whether interleukin-7 receptor (IL-7R) gene polymorphisms influenced RA risk in the Han Chinese population. METHODS:Five single nucleotide polymorphisms (SNPs) in IL-7R gene were successfully genotyped using Agena MassARRAY platform. The associations between IL-7R polymorphisms and RA were evaluated by the Chi-squared test, T test, genetic model analysis, and haplotype analysis. We calculated odds ratios (ORs) and 95% confidence intervals (95% CIs) using logistic regression analysis. RESULTS:Rs969129 and rs6451231 in the IL-7R gene were associated with an increased risk of RA in the allele model (OR = 1.25, 95% CI = 1.05-1.49, p = 0.013; OR = 1.23, 95% CI = 1.03-1.48, p = 0.023), respectively. In the genetic models, rs969129 and rs6451231 were associated with an increased risk of RA. After stratification analysis by age, rs969129 and rs6451231 were associated with an increased risk of RA in patients (age <54). After stratification analysis by gender, rs6451231 was associated with an increased risk of RA in males, while rs969129 was found to be associated with an elevated risk of RA in females. And there was a strong linkage disequilibrium among the four SNPs (rs969129, rs118137916, rs10053847, and rs6451231). CONCLUSION:These results suggested rs969129 and rs6451231 in the IL-7R gene were associated with an increased risk of RA in the Han Chinese population.

SUBMITTER: Bai M

PROVIDER: S-EPMC6625337 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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IL-7R gene polymorphisms among patients with rheumatoid arthritis: A case-control study.

Bai Mei M He Xue X He Yongjun Y Yuan Dongya D Jin Tianbo T Wang Li L

Molecular genetics & genomic medicine 20190526 7

<h4>Background</h4>Rheumatoid arthritis (RA) is the most common inflammatory disease which refers to bony erosions and joint destruction largely caused by genetic factors. Our study aimed to explore whether interleukin-7 receptor (IL-7R) gene polymorphisms influenced RA risk in the Han Chinese population.<h4>Methods</h4>Five single nucleotide polymorphisms (SNPs) in IL-7R gene were successfully genotyped using Agena MassARRAY platform. The associations between IL-7R polymorphisms and RA were eva ...[more]

PMID: 31131543

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Project description:INTRODUCTION: Approximately 100 loci have been definitively associated with rheumatoid arthritis (RA) susceptibility. However, they explain only a fraction of RA heritability. Interactions between polymorphisms could explain part of the remaining heritability. Multiple interactions have been reported, but only the shared epitope (SE) × protein tyrosine phosphatase nonreceptor type 22 (PTPN22) interaction has been replicated convincingly. Two recent studies deserve attention because of their quality, including their replication in a second sample collection. In one of them, researchers identified interactions between PTPN22 and seven single-nucleotide polymorphisms (SNPs). The other showed interactions between the SE and the null genotype of glutathione S-transferase Mu 1 (GSTM1) in the anti-cyclic citrullinated peptide-positive (anti-CCP+) patients. In the present study, we aimed to replicate association with RA susceptibility of interactions described in these two high-quality studies. METHODS: A total of 1,744 patients with RA and 1,650 healthy controls of Spanish ancestry were studied. Polymorphisms were genotyped by single-base extension. SE genotypes of 736 patients were available from previous studies. Interaction analysis was done using multiple methods, including those originally reported and the most powerful methods described. RESULTS: Genotypes of one of the SNPs (rs4695888) failed quality control tests. The call rate for the other eight polymorphisms was 99.9%. The frequencies of the polymorphisms were similar in RA patients and controls, except for PTPN22 SNP. None of the interactions between PTPN22 SNPs and the six SNPs that met quality control tests was replicated as a significant interaction term--the originally reported finding--or with any of the other methods. Nor was the interaction between GSTM1 and the SE replicated as a departure from additivity in anti-CCP+ patients or with any of the other methods. CONCLUSIONS: None of the interactions tested were replicated in spite of sufficient power and assessment with different assays. These negative results indicate that whether interactions are significant contributors to RA susceptibility remains unknown and that strict standards need to be applied to claim that an interaction exists.

Dataset Information

IL-7R gene polymorphisms among patients with rheumatoid arthritis: A case-control study.

Publications

IL-7R gene polymorphisms among patients with rheumatoid arthritis: A case-control study.

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