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Association of ultraviolet radiation resistance-associated gene polymorphisms with rheumatoid arthritis.

ABSTRACT: The ultraviolet radiation resistance-associated gene (UVRAG) protein binds to the Beclin 1/PI3-kinase III complex and promotes autophagy. Autophagy may be upregulated by endoplasmic reticulum (ER) stress. Persistent and excessive ER stress may alter synovial fibroblast apoptosis and this alteration may affect the pathogenesis of rheumatoid arthritis (RA). In this study, we investigated whether UVRAG genetic polymorphisms are associated with RA. To determine the association between UVRAG polymorphisms and RA, we genotyped five UVRAG single-nucleotide polymorphisms (SNPs; rs7111334, intron C/T; rs7933235, intron A/G; rs1380075, intron T/A; rs1458836, near the 5' gene terminal G/A; and rs636420, exon 15 C/T) using a direct sequencing method in 243 RA patients and 417 control subjects. Among these, one SNP (rs7111334) exhibited significant genotypic/allelic differences between RA patients and the control group. Therefore, this study suggested a possible association between UVRAG polymorphisms and RA susceptibility.

SUBMITTER: Kim HK

PROVIDER: S-EPMC3917035 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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Association of ultraviolet radiation resistance-associated gene polymorphisms with rheumatoid arthritis.

Kim Hyung-Ki HK Lee Wha-Young WY Kwon Jun-Tack JT Sohn Dong-Ryul DR Hong Seung-Jae SJ Kim Hak-Jae HJ

Biomedical reports 20131021 1

The ultraviolet radiation resistance-associated gene (UVRAG) protein binds to the Beclin 1/PI3-kinase III complex and promotes autophagy. Autophagy may be upregulated by endoplasmic reticulum (ER) stress. Persistent and excessive ER stress may alter synovial fibroblast apoptosis and this alteration may affect the pathogenesis of rheumatoid arthritis (RA). In this study, we investigated whether UVRAG genetic polymorphisms are associated with RA. To determine the association between UVRA ...[more]

PMID: 24649081

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Project description:Background and Objectives: Rheumatoid arthritis (RA) is a chronic, inflammatory, autoimmune, multi-factorial disease, in which environmental and genetic factors play a major role. RA is possibly linked to vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms, and research demonstrates that FokI variant susceptibility is associated with increased disease risk among Caucasians. The aim of this study was to evaluate vitamin D deficiency prevalence and its correlation to RA clinical parameters, and to determine the possible association of VDR gene polymorphisms and RA susceptibility in the Lithuanian population. Materials and Methods: Overall, 206 RA patients and 180 age- and sex-matched healthy controls were enrolled at Vilnius University Hospital Santaros Klinikos after informed consent was obtained. The disease activity score 28 C-reactive protein (DAS28 CRP), rheumatoid arthritis impact of disease (RAID) score, and health assessment questionnaire (HAQ) were recorded in RA patients, and 25(OH)D serum levels were evaluated by chemiluminescent microparticle immunoassay for all subjects. Four VDR gene polymorphisms, BsmI, FokI, ApaI, and TaqI, were assessed using real-time PCR instruments and genotyping assays in both groups. Results: The study registered a high prevalence of 25(OH)D deficiency (<50 nmol/L) in RA patients (61.55% (n = 127)). The mean serum concentration in RA patients (44.96 ± 21.92 (nmol/L)) was significantly lower than in the healthy controls (54.90 ± 22.82 (nmol/L)), p < 0.0001. A significant inverse correlation between vitamin D level, DAS28 CRP, and HAQ scores was confirmed in RA patients, with p < 0.05. Still, there was no significant association between the overall risk of RA disease for any allele or genotype of the four VDR loci tested. Conclusions: The study confirmed that vitamin D deficiency is prevalent among RA patients and the 25(OH)D level is significantly lower compared with healthy controls. Lower vitamin D concentration was related with increased disease activity and disability scores. However, genetic analysis of four VDR polymorphisms did not confer the susceptibility to RA in Lithuanian population.

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Association of ultraviolet radiation resistance-associated gene polymorphisms with rheumatoid arthritis.

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Association of <i>ultraviolet radiation resistance-associated</i> gene polymorphisms with rheumatoid arthritis.

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