Dataset Information

Polymorphisms of RAD51B are associated with rheumatoid arthritis and erosion in rheumatoid arthritis patients.

ABSTRACT: Rheumatoid arthritis (RA) is a common, chronic autoimmune disease affecting 0.5-1.0% of adults worldwide, including approximately 4.5-5.0 million patients in China. The genetic etiology and pathogenesis of RA have not yet been fully elucidated. Recently, one new RA susceptibility gene (RAD51B) has been identified in Korean and European populations. In this study, we designed a two-stage case-control study to further assess the relationship of common variants in the RAD51B gene with increased risk of RA in a total of 965 RA patients and 2,511 unrelated healthy controls of Han Chinese ancestry. We successfully identified a common variant, rs911263, as being significantly associated with the disease status of RA (P?=?4.8?×?10-5, OR?=?0.64). In addition, this SNP was shown to be related to erosion, a clinical assessment of disease severity in RA (P?=?2.89?×?10-5, OR?=?0.52). These findings shed light on the role of RAD51B in the onset and severity of RA. More research in the future is needed to clarify the underlying functional link between rs911263 and the disease.

SUBMITTER: Zhi L

PROVIDER: S-EPMC5374468 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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Polymorphisms of RAD51B are associated with rheumatoid arthritis and erosion in rheumatoid arthritis patients.

Zhi Liqiang L Yao Shuxin S Ma Wenlong W Zhang Weijie W Chen Honggan H Li Meng M Ma Jianbing J

Scientific reports 20170331

Rheumatoid arthritis (RA) is a common, chronic autoimmune disease affecting 0.5-1.0% of adults worldwide, including approximately 4.5-5.0 million patients in China. The genetic etiology and pathogenesis of RA have not yet been fully elucidated. Recently, one new RA susceptibility gene (RAD51B) has been identified in Korean and European populations. In this study, we designed a two-stage case-control study to further assess the relationship of common variants in the RAD51B gene with increased ris ...[more]

PMID: 28361912

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Project description:BackgroundRheumatoid arthritis (RA) and Alzheimer's disease (AD) are inversely associated. To test the hypothesis that genetic elements associated with increased RA risk are associated with decreased AD risk, we evaluated RA genetic risk factors recently identified in genome-wide association studies (GWAS) for their association with AD in a two-stage, case-control analysis.ResultsIn our Stage 1 analysis of ~800 AD and ~1,200 non-AD individuals, three of seventeen RA-associated SNPs were nominally associated with AD (p < 0.05) with one SNP, rs2837960, retaining significance after correction for multiple testing (p = 0.03). The rs2837960_G (minor) allele, which is associated with increased RA risk, was associated with increased AD risk. Analysis of these three SNPs in a Stage 2 population, consisting of ~1,100 AD and ~2,600 non-AD individuals, did not confirm their association with AD. Analysis of Stage 1 and 2 combined suggested that rs2837960 shows a trend for association with AD. When the Stage 2 population was age-matched for the Stage 1 population, rs2837960 exhibited a non-significant trend with AD. Combined analysis of Stage 1 and the age-matched Stage 2 subset showed a significant association of rs2837960 with AD (p = 0.002, OR 1.24) that retained significance following correction for age, sex and APOE (p = 0.02, OR = 1.20). Rs2837960 is near BACE2, which encodes an aspartic protease capable of processing the AD-associated amyloid precursor protein. Testing for an association between rs2837960 and the expression of BACE2 isoforms in human brain, we observed a trend between rs2837960 and the total expression of BACE2 and the expression of a BACE2 transcript lacking exon 7 (p = 0.07 and 0.10, respectively).ConclusionsRA-associated SNPs are generally not associated with AD. Moreover, rs2837960_G is associated with increased risk of both RA and, in individuals less than 80 years of age, with AD. Overall, these results contest the hypothesis that genetic variants associated with RA confer protection against AD. Further investigation of rs2837960 is necessary to elucidate the mechanism by which rs2837960 contributes to both AD and RA risk, likely via modulation of BACE2 expression.

Dataset Information

Polymorphisms of RAD51B are associated with rheumatoid arthritis and erosion in rheumatoid arthritis patients.

Publications

Polymorphisms of RAD51B are associated with rheumatoid arthritis and erosion in rheumatoid arthritis patients.

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