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Single nucleotide polymorphisms in TNFAIP3 were associated with the risks of rheumatoid arthritis in northern Chinese Han population.

ABSTRACT: Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic destructive inflammation in synovial joints. It is well known that genetic and environmental risk factors and their interaction contribute to RA pathogenesis. This study aimed to investigate the association between the critical polymorphisms in the tumor necrosis factor ? (TNF?)-induced protein 3(TNFAIP3) gene and the risk of RA in a large northern Chinese Han population.A case-control study of 1280 RA patients and 1280 matched healthy controls was conducted.This study showed that carriers of the rs2230926 TG genotype or rs10499194 CT genotype had an increased risk for RA compared with those carrying the wild genotype (rs2230926: OR?=?1.48, 95%?CI?=?1.17-1.86, p?=?0.001; rs10499194: OR?=?2.00, 95%?CI?=?1.46-2.74, p?53 years old only rs10499194(CT, TT, CT/TT) polymorphism had significant results. The interaction analysis suggested that individuals with both risk genotypes of the two SNPs have a higher elevated risk of RA than those with only one of them (ORs were 3.44 compared to 1.74 and 1.35). The haplotype results showed that individuals with the rs2230926G-rs13207033G-rs10499194C haplotype were associated with increased risks of RA (OR?=?1.37, 95%?CI?=?1.08-1.74, p?=?0.010).Rs10499194 and rs2230926 polymorphisms in the TNFAIP3 gene region may be susceptibility factors for rheumatoid arthritis in the northern Chinese Han population.

SUBMITTER: Zhang X

PROVIDER: S-EPMC4025534 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature

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Single nucleotide polymorphisms in TNFAIP3 were associated with the risks of rheumatoid arthritis in northern Chinese Han population.

Zhang Xingang X Li Wei W Zhang Xinpeng X Zhao Liang L Zhang Xiaoli X Jiang Li L Guo Yun Y Zhang Jin J Liang Zaifu Z Wang Xiaofei X

BMC medical genetics 20140515

<h4>Background</h4>Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic destructive inflammation in synovial joints. It is well known that genetic and environmental risk factors and their interaction contribute to RA pathogenesis. This study aimed to investigate the association between the critical polymorphisms in the tumor necrosis factor α (TNFα)-induced protein 3(TNFAIP3) gene and the risk of RA in a large northern Chinese Han population.<h4>Methods</h4>A case- ...[more]

PMID: 24884566

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Project description:Melanocortin-4 receptor (MC4R) has been reported to be associated with the risk of obesity, and metabolically unhealthy obese (MUHO) patients tend to have a greater risk of cardiovascular complications than metabolically healthy obese (MHO) patients. Therefore, we aimed to study single nucleotide polymorphisms (SNPs) in the MC4R gene associated with metabolically healthy and unhealthy obesity in Chinese Northern Han populations. A total of 1100 Chinese Northern Han subjects were recruited and divided into four groups according to the criteria of the Adult Treatment Panel-III (ATP-III) and World Health Organization (WHO): MUHO (n = 300), MHO (n = 196), metabolic unhealthy normal weight (MUH-NW) (n = 303), and metabolic healthy normal weight (MH-NW) (n = 301). DNA samples were extracted, and six SNPs of the MC4R gene, including rs2331841, rs656710, rs17782313, rs571312, rs12970134, and rs11872992, were genotyped with the matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) method. Among the six SNPs of the MC4R gene, rs2331841 (A/G) was the most significant and could account for 0.9% of obesity etiology. Compared with the normal weight group, rs2331841 of the MC4R gene was associated with obesity (P=0.032). The obesity risk of subjects with the AG genotype in the rs2331841 site was 82% higher than the risk of those with the GG genotype (β = 0.60, OR = 1.82, P=0.030). After adjusting for sex and age, the frequency of the A allele in the rs2331841 site was higher in the MUHO group than in the MH-NW group (27.9% vs. 21.1%, respectively, OR = 1.49, 95% CI 1.14-1.96, P=0.005) and in the MUHO group than in the MHO group (27.9% vs. 22.3%, respectively, OR = 1.39, 95% CI 1.02-1.92, P=0.039). Among the three genotypes of rs2331841, the subjects with the AA/AG genotype had higher diastolic blood pressure (DBP) than those with the GG genotype. Our data first suggest that SNPs in the rs2331841 site of the MC4R gene are closely related to obesity and its related metabolic disorders in Chinese Northern Han populations. The participants with an A allele of rs2331841 had a higher risk of obesity and MUHO than other participants.

Dataset Information

Single nucleotide polymorphisms in TNFAIP3 were associated with the risks of rheumatoid arthritis in northern Chinese Han population.

Publications

Single nucleotide polymorphisms in TNFAIP3 were associated with the risks of rheumatoid arthritis in northern Chinese Han population.

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