Association between functional variant of inflammatory system gene (PSMA6) and end-stage kidney disease

M. Buraczynska,A. Steć,A. Filipczak,A. Książek

Published 2016 in International Urology and Nephrology

ABSTRACT

BackgroundThe proteasome system is involved in several disorders. The 5′ untranslated region of PSMA6 gene contains a single nucleotide polymorphism (SNP) −8 C/G, associated with diabetes, myocardial infarction and coronary artery disease.MethodsWe examined 584 patients with end-stage kidney disease (ESKD) and 430 controls. All were genotyped for −8 C/G SNP by polymerase chain reaction and restriction analysis.ResultsWe observed lower frequency of CG + GG genotypes in patients than in controls (20 vs. 42 %, p = 0.0038). The odds ratio of 0.34 (95 % CI 0.26–0.45) suggests association of CG + GG with decreased risk of ESKD. We investigated the association between PSMA6 polymorphism and LVH present in 54 % of patients. There was a significant association of CG + GG genotype with LVH, with over 75 % of CG + GG in patients with LVH. This effect was independent from other common causes of LVH—age (OR 1.12, p = 0.643) and hypertension (OR 1.72, p = 0.422).ConclusionWe demonstrated for the first time that PSMA6 polymorphism might be a protective factor for ESKD. On the other hand, CG + GG genotypes are independently related to LVH in ESKD patients.

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