Related Experiment Video
Updated: Mar 14, 2026

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma
Published on: September 20, 2024
Association between functional variant of inflammatory system gene (PSMA6) and end-stage kidney disease
Monika Buraczynska1, Anna Stec2, Aleksandra Filipczak2
1Department of Nephrology, Medical University of Lublin, Jaczewskiego 8, 20-954, Lublin, Poland. monika.buraczynska@umlub.pl.
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.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Chronic Kidney Disease II: Clinical Manifestations
Nephrotic Syndrome I : Introduction
Acute Kidney Injury II: Pathophysiology
Renal Regulation of Acid-Base Balance
In the kidneys, cells within the proximal convoluted tubules (PCT) and the collecting ducts secrete hydrogen ions (H+) into the tubular fluid. Specifically, in the PCT, Na+/H+ antiporters secrete H+ while reabsorbing Na+.
However, the intercalated cells in...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

