Assoziationsanalyse Des CMYA5 Rs4704591-Polymorphismus Mit Rheumatoider Arthritis Bei Kaukasiern

Introduction Single nucleotide polymorphisms (SNPs) in the Cardiomyopathy-Associated Protein 5 (CMYA5) gene have been associated with rheumatoid arthritis (RA) in genome-wide association studies. In this study, we aimed to replicate the association between CMYA5 gene polymorphisms and RA in independent Caucasian case-control cohorts and perform a meta-analysis to investigate the association of CMYA5 gene polymorphisms with RA in Caucasian populations.Methods We analysed 2731 RA cases and 1783 healthy controls in 4 independent Caucasian sample sets. rs4704591 in CMYA5 gene was genotyped using the TaqMan SNP genotyping assay. Meta-analysis was conducted across Caucasian cohorts.Results Our analysis showed no evidence for association of rs4704591 with RA in the replication sample sets (p=0.941, OR=0.997). Meta analysis showed a weak association between the minor allele of the CMYA5 rs4704591 variant (C) and RA in the combined RA cohorts (p=0.023, OR=0.938) using the logistic regression model in the matched case-control study.Conclusion Our study failed to replicate the association of the CMYA5 rs4704591 variant with RA and therefore, we cannot confirm the association between CMYA5 gene polymorphisms and RA in Caucasian population. However, further investigation might help to unravel the association of CMYA5 gene variants with RA.