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

Abstract

Background: The 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. Methods: We 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. Results: We 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). Conclusion: We 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.