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The association between caspase-5 gene polymorphisms and rheumatoid arthritis in a Chinese population

Rui, Huan, Yan, Ting, Hu, Zhiyong, Liu, Ruiping, Wang, Liqun
Gene 2018 v.642 pp. 307-312
bioinformatics, case-control studies, caspase-5, correlation, gene ontology, genes, genetic factors, genotyping, inflammation, loci, patients, rheumatoid arthritis, risk, single nucleotide polymorphism
Genetic factors are widely recognized to have a substantial effect on the susceptibility to rheumatoid arthritis (RA). We examined the contribution of caspase-5 (CASP5) gene polymorphisms to RA risk in a Chinese population. We conducted a case-control study involving 500 RA patients and 500 controls and performed co-expression analysis to identify genes associated with CASP5. We attempted to analyze the functions of these genes by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses. We carried out genotyping using a custom-by-design 48-Plex SNP (single nucleotide polymorphism) Scan™ Kit. The independent effects of these genetic loci were evaluated by creating genetic risk scores (GRS). Bioinformatics analysis confirmed that CASP5 was related to the development of inflammation, which is the main feature of RA. In addition, the CASP5 rs9651713 polymorphism was associated with an increased risk of RA, but there was no significant association between any other tested polymorphism (rs2276414, rs2282657, rs3181171, rs3181318, rs3181175, rs3181337, and rs552217) and RA risk. In addition, a high GRS was positively correlated with the risk of RA. In conclusion, CASP5 may contribute to the development of RA by mediating inflammation. Larger studies with more diverse ethnic populations are needed to confirm these results.