Analysis of relationship between UMOD polymorphisms rs13335818, rs4293393 and rs13333226 and risk of chronic kidney disease caused by chronic glomerulonephritis
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Katedra Chorób Wewnętrznych, Diabetologii i Nefrologii, Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, Śląski Uniwersytet Medyczny w Katowicach
Katedra Nefrologii, Transplantologii i Chorób Wewnętrznych, Wydział Lekarski w Katowicach, Śląski Uniwersytet Medyczny w Katowicach
Niepubliczny Zakład Opieki Zdrowotnej Rodzinna Służba Zdrowia "Gmin-Med" Sp. z o.o. w Dobieszowicach
Katedra Nefrologii Pediatrycznej, Uniwersytet Medyczny im. Piastów Śląskich we Wrocławiu
Joanna Żywiec   

Katedra Chorób Wewnętrznych, Diabetologii i Nefrologii, Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, Śląski Uniwersytet Medyczny w Katowicach, ul. 3 Maja 13/15, 41-800 Zabrze
Ann. Acad. Med. Siles. 2017;71:193–203
Chronic glomerulonephritis is one of the common causes of chronic kidney disease that can lead to end-stage renal failure and the need for renal replacement therapy. Understanding the aetiology of this disease and its risk factors can help develop new methods of early diagnosis and effective therapy. Uromodulin is a protein with a broad spectrum of activity, and is involved in the key pathways that regulate kidney homeostasis.

Aim of the study:
The aim of the study was to analyse the relationship between three selected polymorphisms (rs13335818, rs4293393 and rs13333226) of the uromodulin gene (UMOD) and the risk of chronic kidney disease caused by chronic glomerulonephritis.

Material and methods:
113 patients with chronic glomerulonephritis and eGFR < 60 ml/min/1.73 m2 (experimental group) and 196 patients from the General Outpatient Clinic without a history of renal disease and eGFR > 60 ml/min/1.73 m2 (control group) were recruited for the study. The study protocol assumed a one-time blood collection for genetic testing and serum creatinine level determination. Genetic material was isolated from the peripheral blood lymphocytes of the subjects. Genotyping of the analysed polymorphisms was performed using TaqMan SNP Genotyping Assay kits. The results were processed with statistical methods using Statistica 10 and Microsoft Office Exel 2003 software, the Mann-Whitney U test and the χ2 test. Statistical significance was adopted at p < 0.05.

No statistically significant differences in the distribution of genotypes between the experimental and control groups were found for any of the three analysed UMOD variants.

UMOD polymorphisms rs13335818, rs4293393 and rs13333226 are not associated with the risk of chronic kidney disease caused by chronic glomerulonephritis.

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