medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.01.14-19medgen-377Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHГенетические варианты, связанные с нарушениями когнитивных функций человека, при болезни АльцгеймераGenetic markers of decline human cognitive functions in Alzheimer`s diseaseБочароваА. В.BocharovaA. V.anna.bocharova@medgenetics.ruМарусинА. В.MarusinA. V.noemail@neicon.ruМакееваО. А.MakeevaO. A.noemail@neicon.ruЖуковаИ. А.ZhukovaI. A.noemail@neicon.ruЖуковаН. Г.ZhukovaN. G.noemail@neicon.ruАлифироваВ. М.AlifirovaV. M.noemail@neicon.ruСтепановВ. А.StepanovV. A.noemail@neicon.ruФГБНУ «Томский национальный исследовательский медицинский центр Российской академии наук» «Научно-исследовательский институт медицинской генетики»РоссияResearch Institute of Medical Genetics, Tomsk NRMCRussian FederationФГБНУ «Томский национальный исследовательский медицинский центр Российской академии наук» «Научно-исследовательский институт медицинской генетики»; Центр клинических исследований «Неббиоло»РоссияResearch Institute of Medical Genetics, Tomsk NRMC; Nebbiolo Centre for Clinical TrialsRussian FederationФГБОУ ВО «Сибирский государственный медицинский университет»РоссияSiberian State Medical UniversityRussian FederationФГБНУ «Томский национальный исследовательский медицинский центр Российской академии наук» «Научно-исследовательский институт медицинской генетики»; ФГАОУ ВО «Национальный исследовательский Томский государственный университет»РоссияResearch Institute of Medical Genetics, Tomsk NRMC; Tomsk State UniversityRussian Federation2018260320181711419Copyright © Бочарова А.В., Марусин А.В., Макеева О.А., Жукова И.А., Жукова Н.Г., Алифирова В.М., Степанов В.А., 20182018Бочарова А.В., Марусин А.В., Макеева О.А., Жукова И.А., Жукова Н.Г., Алифирова В.М., Степанов В.А.Bocharova A.V., Marusin A.V., Makeeva O.A., Zhukova I.A., Zhukova N.G., Alifirova V.M., Stepanov V.A.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/377

Проведено репликативное ассоциативное исследование в дизайне случай-контроль 30 однонуклеотидных полиморфных вариантов генов, показавших высокодостоверную ассоциацию с когнитивными функциями, болезнью Альцгеймера (БА) или шизофренией по данным полногеномных ассоциативных исследований и метаанализам. Была установлена статистически достоверная ассоциация полиморфного варианта rs12922317 гена SNX29 с фенотипом БА, что в других работах не встречалось. Минорный аллель G rs12922317 гена SNX29 достоверно чаще встречался среди больных БА по сравнению с контрольной группой (OR = 1,57, 95% CI 1,14-2,16, p = 0,006). В других работах была показана роль полиморфного маркера rs12922317 гена SNX29 в развитии таких заболеваний, как шизофрения, В-клеточная лимфома яичка и эпителиальная овариальная карцинома.

We have held a replication associative study in case-control design of 30 SNPs of genes that showed association with cognitive functions or Alzheimer’s disease or schizophrenia according to the data of GWAS. A statistically significant association of the polymorphic variant rs12922317 of SNX29 gene with the Alzheimer’s disease in the Russian population was established, which was not found in other studies. Minor allele G rs12922317 of SNX29 gene was significantly more frequent among patients with the Alzheimer’s disease compared with control group (OR = 1.57, 95% CI 1.14-2.16, p = 0.006), and according to GWAS this marker was associated with schizophrenia.

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