Association Analysis of CMYA5 rs4704591 Polymorphism with Rheumatoid Arthritis in Caucasians

Zusammenfassung

Einleitung Einzel nukleotid polymorphismen (SNPs) im Cardiomyopathy-Associated Protein 5 (CMYA5)-Gen wurden in genomweiten Assoziationsstudien mit rheumatoider Arthritis (RA) in Verbindung gebracht. In dieser Studie wollten wir die Assoziation zwischen CMYA5-Genpolymorphismen und RA in unabhängigen kaukasischen Fall-Kontroll-Kohorten replizieren und eine Metaanalyse durchführen, um die Assoziation von CMYA5-Genpolymorphismen mit RA in kaukasischen Populationen zu untersuchen.

Methoden Wir analysierten 2731 RA-Fälle und 1783 gesunde Kontrollen in vier unabhängigen kaukasischen Probensätzen. rs4704591 im CMYA5-Gen wurden unter Verwendung des TaqMan SNP-Genotypisierungsassays genotypisiert. Die Metaanalyse wurde über kaukasische Kohorten hinweg durchgeführt.

Ergebnisse Unsere Analyse ergab keine Hinweise auf eine Assoziation von rs4704591 mit RA in den Replikationsprobensätzen (P=0,941, OR=0,997). Die Metaanalyse zeigte eine schwache Assoziation zwischen dem kleinen Allel der CMYA5-Variante rs4704591 (C) und RA in den kombinierten RA-Kohorten (P=0,023, OR=0,938) unter Verwendung des logistischen Regressionsmodells in der Matched-Case-Control-Studie.

Schlussfolgerung Unsere Studie war nicht erfolgreich darin, die Assoziation der CMYA5-Variante rs4704591 mit RA zu replizieren. Daher können wir die Assoziation zwischen CMYA5-Genpolymorphismen und RA in der kaukasischen Bevölkerung nicht bestätigen.

Abstract

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.

Key words

Rheumatoid Arthritis - Genetic association - GWAS - CMYA5

Schlüsselwörter

Rheumatoide Arthritis - Genetische Assoziation - GWAS - CMYA5

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