Infl uence of erythropoietin gene promoter polymorphism rs 1617640 on the incidence and progression of chronic kidney disease; a family-based study

• Authors: Joanna Żywiec , Katarzyna Kiliś-Pstrusińska , Władysław Grzeszczak , Janusz Gumprecht , Wanda Trautsolt , Sylwia Górczyńska-Kosiorz

Title variants

PL

Wpływ polimorfi zmu rs 1617640 promotora genu erytropoetyny na występowanie i progresję przewlekłej choroby nerek; badania rodzinne

• Languages of publication: EN

Abstracts

EN

INTRODUCTION The aetiology of chronic kidney disease (CKD) and its progression are multifactorial in nature. A number of reports have demonstrated the nonhaematological local protective properties of erythropoietin in diff erent tissues, including those in the kidneys. The primary goal of the reported, family-based study was to assess the infl uence of rs 1617640 erythropoietin gene promoter polymorphism on the incidence and progression of CKD. MATERIAL AND METHODS For that purpose, 109 patients with CKD (72.5% with chronic interstitial nephritis and 27.5% with chronic glomerulonephritis) and their parents were examined. At the time of the study, the mean glomerular fi ltration rate was 28.2 ml/min and 53.2% patients were maintained on renal replacement therapy. Fluorescence labelled probes of the TaqMan Pre-designed SNP Genotyping Assay (Applied Biosystems Company) were used for rs1617640 polymorphism investigation. RESULTS The genome distribution of rs 1617640 polymorphism of the erythropoietin gene promoter was: 48.6% AC, 25.7% AA and 25.7% CC patients. Based on Transmission Disequilibrium Test results, the bordeline statistical signifi cance of preferential C allele transfer from parents to their aff ected children with glomerulonephritis was observed. CONCLUSIONS No infl uence of rs 1617640 promoter polymorphism of the erythropoietin gene on the incidence of CKD in the course of chronic interstitial nephritis was observed. The bordeline signifi cance of preferential C allele transfer in patients with glomerulonephritis suggests association between rs1617640 and CKD of this aethiology.

PL

WSTĘP Etiologia przewlekłego uszkodzenia nerek oraz jego progresji jest wieloczynnikowa. Prace ostatnich lat dowodzą znaczenia pozaszpikowego miejscowego działania ochronnego erytropoetyny w wielu tkankach, w tym także w nerkach. Celem pracy była ocena w modelu rodzinnym wpływu polimorfizmu rs1617640 promotora genu dla erytropoetyny na rozwój i progresję przewlekłej choroby nerek. MATERIAŁ I METODY Badania przeprowadzono w grupie 109 chorych na przewlekłą chorobę nerek w przebiegu przewlekłego śródmiąższowego zapalenia nerek (72,5%) i przewlekłego kłębuszkowego zapalenia nerek (27,5%) oraz u 218 ich biologicznych rodziców. W momencie prowadzenia badania średnia filtracja kłębuszkowa (GFR) wynosiła 28,2 ml/min, a 53,2% chorych było leczonych nerkozastępczo. Genotypowanie polimorfizmu rs1617640 w promotorze genu erytropoetyny wykonano, wykorzystując znakowane fluorescencyjnie sondy z zestawu TaqMan Pre-designed SNP Genotyping Assay firmy Applied Biosystems. WYNIKI Analizując rozkład genotypów badanego polimorfizmu, stwierdzono: u 48,6% chorych genotyp AC, a u pozostałych chorych w równym procencie (po 25,7%) genotyp AA i CC. W teście TDT (Transmission Disequilibrium Test) wykazano na granicy istotności statystycznej przekazywanie preferencyjne allelu C w grupie chorych z przewlekłym kłębuszkowym zapaleniem nerek. WNIOSKI Nie obserwowano wpływu polimorfizmu rs1617640 genu promotora dla erytropoetyny na występowanie przewlekłego uszkodzenia nerek w przebiegu przewlekłego środmiąższowego zapalenia nerek. Stwierdzone na granicy istotności statystycznej, preferencyjne przekazywanie allelu C w grupie chorych na przewlekłe kłębuszkowe zapalenie nerek, sugeruje związek rs1617640 z przewlekłą chorobą nerek o tej etiologii.

Keywords

EN

badania rodzinne; chronic kidney disease; erythropoietin gene promoter polymorphism; family-based study; polimorfi zm promotora genu dla erytropoetyny; przewlekła choroba nerek

Discipline

• MEDICINE: MEDICINE

• Publisher: Śląski Uniwersytet Medyczny w Katowicach
• Journal: Annales Academiae Medicae Silesiensis
• Year: 2012
• Volume: 66
• Issue: 4
• Pages: 17–23

Contributors

author

Joanna Żywiec

• Department of Internal Medicine, Diabetology and Nephrology School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice 3 Maja 13/15 Street 41-800 Zabrze tel. [phone] fax [phone] e-mail: jzywiec@sum.

author

Katarzyna Kiliś-Pstrusińska

• Department of Paediatric Nephrology, Medical University in Wrocław

author

Władysław Grzeszczak

• Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice

author

Janusz Gumprecht

• Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice

author

Wanda Trautsolt

• Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice

author

Sylwia Górczyńska-Kosiorz

• Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze Medical University of Silesia in Katowice

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• Document Type: article