nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-1560Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESПолиморфный маркер R229Q гена подоцина у детей с нефротическим синдромомPolymorphic marker R229Q of podocin gene in children with nephrotic syndromeПетросянЭ. К.PetrosyanE. K.Ed3565@yandex.ruЦыгинА. Н.TzyginA. N.noemail@neicon.ruИльенкоЛ. И.Il’EnkoL. I.noemail@neicon.ruШестаковА. Е.ShestakovA. E.noemail@neicon.ruНосиковВ. В.NosykovV. V.noemail@neicon.ruРоссийский государственный медицинский университетRussian FederationНаучный центр здоровья детей, РАМНRussian FederationГосударственный научно-исследовательский институт «Генетика», г. МоскваRussian Federation20062306202583268271Copyright © Петросян Э.К., Цыгин А.Н., Ильенко Л.И., Шестаков А.Е., Носиков В.В., 20252025Петросян Э.К., Цыгин А.Н., Ильенко Л.И., Шестаков А.Е., Носиков В.В.Petrosyan E.K., Tzygin A.N., Il’Enko L.I., Shestakov A.E., Nosykov V.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/1560

Целью нашего исследования было определение распространения различных генотипов полиморфного маркера R229Q (G755A) гена подоцина (NPHS2) у детей с нефротическим синдромом. Генетический полиморфизм G755A исследован у 86 детей с нефротическим синдромом с минимальными изменениями (НСМИ) и 29 больных фокально-сегментарным гломерулосклерозом (ФСГС). Группа контроля состояла из 80 человек без заболеваний почек. В результате проведенного обследования нами выявлена высокая ассоциация гетерозиготного генотипа GA с ФСГС. Причем в группе больных, манифестация ФСГС у которых отмечалась в возрасте 1-6 лет, установлено достоверное в сравнении с детьми, дебют заболевания которых наблюдался в школьный период, повышение доли гетерозиготного генотипа GA. Не установлена связь полиморфного маркера R229Q с НСМИ. Однако у детей с манифестацией НСМИ в возрасте 7-15 лет частота генотипа GA была достоверно выше в сравнении с контрольной группой.

The purpose of our research was to define distribution of various genotypes of polymorphic marker R229Q (G755A) of the podocin gene (NPHS2) in children with nephrotic syndrome. Genetic polymorphism G755A was investigated in 86 children with minimal changes nephrotic syndrome (MCNS) and 29 patients with focal segmental glomerulosclerosis (FSGS). Control group included 80 persons without kidney disease. We found high association of heterozygotic genotype GA with FSGS. Moreover, in thouse patients, who manifested symptomes of FSGS in age of 1-6 years was established significant increase of a share of heterozygotic genotype GA in comparison to children whith disease manifestation during the school period. No association of polymorphic marker R229Q with MCNS was found. However in children, who demonstrated symptoms of MCNS in age of 7-15 years, frequency of genotype GA was significantly higher in comparison to control group.

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The authors declare that there are no conflicts of interest present.