medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-227Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHМолекулярно-генетическая изменчивость в гене ABCC11, кодирующем ATФ-связанный кассетный транспортный белокMolecular-genetic diversity in the ABCC11 gene encoding of ATP-binding cassette (ABC)СпицынВ. А.SpitsynV. A.ecolab@med-gen.ruМакаровС. В.MakarovS. V.noemail@neicon.ruКарапетянМ. К.KarapetianM. K.noemail@neicon.ruБычковскаяЛ. С.BichkovskayaL. S.noemail@neicon.ruБалиноваН. В.BalinovaN. V.noemail@neicon.ruАлексееваН. В.AlexeevaN. V.noemail@neicon.ruБецЛ. В.BetzL. V.noemail@neicon.ruАсановА. Ю.AsanovA. Yu.noemail@neicon.ruСпицынаН. Х.SpitsynaN. Kh.noemail@neicon.ruФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian FederationМосковский государственный университетРоссияLomonosov Moscow State UniversityRussian FederationГБОУ ВПО. Первый МГМУ им. И.М.СеченоваRussian FederationФГБНУ «Институт этнологии и антропологии» им. Н.Н.Миклухо-МаклаяРоссияInstitute of Ethnology and AnthropologyRussian Federation2017180420171613136Copyright © Спицын В.А., Макаров С.В., Карапетян М.К., Бычковская Л.С., Балинова Н.В., Алексеева Н.В., Бец Л.В., Асанов А.Ю., Спицына Н.Х., 20172017Спицын В.А., Макаров С.В., Карапетян М.К., Бычковская Л.С., Балинова Н.В., Алексеева Н.В., Бец Л.В., Асанов А.Ю., Спицына Н.Х.Spitsyn V.A., Makarov S.V., Karapetian M.K., Bichkovskaya L.S., Balinova N.V., Alexeeva N.V., Betz L.V., Asanov A.Y., Spitsyna N.K.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/227

Представленный ниже краткий обзор включает всестороннюю информацию о полиморфизме гена ABCC11 , включая собственные данные о распределении генотипов и аллелей rs17822931 в ряде этнических групп РФ. Многие из белков ABC вовлечены в трансмембранный транспорт лекарств, ксенобиотиков, эндогенных веществ или ионов, обнаруживая широкий спектр биологических функций. Среди однонуклеотидных полиморфизмов (ОНП) идентифицирован ОНП, определяющий морфофункциональный тип ушной серы (cerumen) - 538GA (Gly180Arg. rs17822931). Выявлена положительная ассоциация между наличием влажного типа ушной серы и проявлением аксиллярного осмидроза, а также характером секреции молозива из молочной железы. ОНП (538G>A) в гене ABCC11 представляется клиническим биомаркером для предсказания химиотерапевтического эффекта при лечении рака молочной железы. Изучено распределение генотипов и аллелей ОНП (538G>A) в трех этнических группах РФ методами молекулярной генетики.

A short review represents comprehensive information in ABCC11 gene polymorphism including our own data about the distribution genotypes and alleles frequencies of ABCC11 (rs17822931) in some ethnic groups of Russia. The protein encoded by ABCC11 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. Non-synonymous single nucleotide polymorphisms (SNP) 538G >A (rs17822931; Gly180Arg) in the ABCC11 gene determines the type of earwax in individuals has shed light on the novel function of this ABC transporter in apocrine glands. The wild-type (Gly180) of ABCC11 gene associated with wet-type earwax, axillary osmidrosis, and colostrums secretion from mammary gland as well as the potential risk of mastopathy. The SNP (538G>A) in the ABCC11 gene is suggested to be a clinical biomarker for the prediction of chemotherapeutic efficacy. The aim of this work is to study the genotypes and alleles distribution in the ethnical groups of Russia by molecular genetics methods. In the results data on the ABCC11 (rs17822931) polymorphism in three small ethnic group of Russia are represented in this study. The frequencies of ABCC11 (rs17822931) alleles (*G and *A) which determine wet and dry types of ear wax are equal were in khants population to 0,3291 and 0,6709; in nenets 0,3172 and 0,6828 (Western Siberia) and in kalmyks of the Lower Volga to 0,1620 and 0,8380 accordingly.

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