medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.09.37-44medgen-583Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHЧастоты аллелей и генотипов, ассоциированных с чувствительностью к антикоагулянтам из группы антагонистов витамина К, в казахской популяцииFrequency of alleys and genotypes associated with sensitivity to anticoagulants from the group of vitamin K antagonists in the Kazakh populationСвятоваГ. С.SvyatovaG. S.respmgk@mail.ruБерезинаГ. М.BerezinaG. M.noemail@neicon.ruМиербековЕ. М.MiyerbekovY. M.ergali.m1@gmail.comМуртазалиеваА. В.MurtazaliyevaA. V.respmgk@mail.ruРеспубликанское государственное предприятие на праве хозяйственного ведения «Научный центр акушерства, гинекологии и перинатологии» Министерства здравоохранения Республики КазахстанРоссияRepublican State Enterprise on the right of economic management «Scientific Center of Obstetrics, Gynecology and Perinatology» of the Ministry of Health of the Republic of KazakhstanRussian FederationАкционерное общество «Национальный научный центр хирургии им. А.Н. Сызганова»РоссияJoint Stock Company «National Scientific Center for Surgery. A.N. SyzganovaRussian Federation2018010920181793744Copyright © Святова Г.С., Березина Г.М., Миербеков Е.М., Муртазалиева А.В., 20182018Святова Г.С., Березина Г.М., Миербеков Е.М., Муртазалиева А.В.Svyatova G.S., Berezina G.M., Miyerbekov Y.M., Murtazaliyeva A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/583

Изучена популяционная частота аллелей и генотипов CYP2C9*2 (rs12254292), *3 (rs9332108), *5 (rs1927465) и *6 (rs12254292); CYP2C19 (rs11187240); VKORC1 (rs9923231), (rs9934438); CYP4F2 (rs2108622); EPHX1 (rs7542242); GGCX (rs12616455); PROC (rs11887389), ассоциированных с эффективностью антикоагулянтной терапии антагонистами витамина К, в казахской популяции. Популяционную выборку составили 2230 условно здоровых казахов. Показано, что в казахской популяции распределение генотипов изученных 11 полиморфизмов находится в соответствии с равновесием Харди-Вайнберга (p>0,05), за исключением CYP2C9 * 3 (р<0,05). Сравнительный анализ показал, что по частотам аллелей CYP2C9*3 , CYP2C9*5 , CYP2C9*6 , неблагоприятных аллелей гена VKORC1 (rs9923231; rs9934438) и GGCX (rs11676382) казахская популяция занимает промежуточное положение между описанными ранее популяциями Европы и Азии. Частота минорных аллелей CYP2C9*2 , CYP2C19 , PROC (rs2069910) в казахской популяции не имела различий с европейскими популяциями, но достоверно отличается от аналогичных показателей популяции Южной Азии.

The population frequency of alleles and genotypes CYP2C9*2 (rs12254292), *3 (rs9332108), *5 (rs1927465) и *6 (rs12254292); CYP2C19 (rs11187240); VKORC1 (rs9923231), (rs9934438); CYP4F2 (rs2108622); EPHX1 (rs7542242); GGCX (rs12616455); PROC (rs11887389), associated with the effectiveness of anticoagulant therapy with vitamin K antagonists in the Kazakh population was studied. Population sample was 2230 conditionally healthy Kazakhs. In the Kazakh population, the distribution of genotypes of 11 SNPs is in accordance with the Hardy-Weinberg equilibrium (p>0.05), with the exception of CYP2C9*3 (р<0.05). A comparative analysis showed that the CYP2C9*3, CYP2C9*5, CYP2C9*6, adverse alleles of the gene VKORC1 (rs9923231; rs9934438) and GGCX (rs11676382) alleles frequencies occupy an intermediate position between the previously described populations of Europe and Asia. The frequency of the minor alleles CYP2C9*2, CYP2C19, PROC (rs2069910) in the Kazakh population did not differ from the European populations, but significantly differs from the population of South Asia.

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