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


CONCLUSIONS
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.
Department of Nephrology, Medical University of Lublin, Jaczewskiego 8, 20-954, Lublin, Poland. monika.buraczynska@umlub.pl.
Monika
M
Buraczynska
Department of Nephrology, Medical University of Lublin, Jaczewskiego 8, 20-954, Lublin, Poland.
Anna
A
Stec
Department of Nephrology, Medical University of Lublin, Jaczewskiego 8, 20-954, Lublin, Poland.
Aleksandra
A
Filipczak
Department of Nephrology, Medical University of Lublin, Jaczewskiego 8, 20-954, Lublin, Poland.
Andrzej
A
Ksiazek
D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000235:genetics; D017379:Hypertrophy, Left Ventricular / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D046988:Proteasome Endopeptidase Complex / Q000235:genetics*; D065840:Protective Factors
C465641:PSMA6 protein, human; D046988:Proteasome Endopeptidase Complex
End-stage renal disease; Genotyping; LVH; PSMA6; Single nucleotide polymorphism
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