Russian Journal of GeneticsRussian Journal of GeneticsГенетика0016-67583034-5103The Russian Academy of Sciences68220510.31857/S0016675825040087UAJLHKГЕНЕТИКА ЧЕЛОВЕКАResearch ArticleAnalysis of polymorphic variants of cholinergic receptor genes in type 2 diabetes mellitusАнализ полиморфных маркеров генов холинергических рецепторов при сахарном диабете 2-го типаKochetovaO. V.КочетоваО. В.
Russian Federation

Institute of Biochemistry and Genetics

Институт биохимии и генетики

Olga_MK78@mail.ruAvsaleydinivaD. Sh.АвзалетдиноваД. Ш.
Russian Federation
Olga_MK78@mail.ruKochetovaT. M.КочетоваТ. М.
Russian Federation
Olga_MK78@mail.ruAkhmadishinaL. Z.АхмадишинаЛ. З.
Russian Federation

Institute of Biochemistry and Genetics

Институт биохимии и генетики

Olga_MK78@mail.ruKorytinaG. F.КорытинаГ. Ф.
Russian Federation

Institute of Biochemistry and Genetics

Институт биохимии и генетики

Olga_MK78@mail.ruUfa Federal Research Centre of the Russian Academy of SciencesУфимский федеральный исследовательский центр Российской академии наукBashkir State Medical UniversityБашкирский государственный медицинский университет27042025614768503062025Copyright ©; 2025, Russian Academy of SciencesCopyright ©; 2025, Российская академия наук2025Russian Academy of SciencesРоссийская академия наукhttps://transsyst.ru/0016-6758/article/view/682205

Obesity and addictive eating behaviours represent significant causal factors in the development of type 2 diabetes mellitus. Genes encoding muscarinic and nicotinic receptors have been demonstrated to be significant associated with a wide range of psychiatric disorders. Consequently, these genes represent potential markers for the study of predisposition to both disturbed eating behaviour and type 2 diabetes mellitus (T2DM). A total of 992 DNA samples from individuals with T2DM and 1,023 DNA samples from healthy controls were examined. A DEBQ-based assessment of eating behaviour was conducted. The following polymorphic loci were investigated by real-time PCR: CHRNA5 (rs16969968), CHRNA3 (rs1051730), CHRNB4 (rs17487223), CHRM4 (rs206748), CHRNA3 (rs578776), CHRM5 (rs7162140), CHRM1 (rs2067477), CHRNA7 (rs3826029). The present study found an association between the T2DM and the following genetic variants: CHRNA5 rs16969968 (P = 0.00001, OR = 1.72), CHRNA3 rs1051730 (P = 0.00001, OR = 1.812), CHRM5 rs7162140 (P = 0.051, OR = 1.90), and CHRM1 rs2067477 (P = 0.003, OR = 1.41). It was shown an association between the AA haplotype (CHRNA5 rs16969968 – CHRNA3 rs1051730) and the AAT haplotype (CHRNA5 rs16969968 – CHRNA3 rs1051730 – CHRNB4 rs17487223) with the T2DM (P = 0.0004, OR = 1.37; P = 0.00005, OR = 1.34). The CHRNA3 rs578776, CHRNA7 rs3826029, CHRM5 rs7162140 and CHRM1 rs2067477 loci were found to be associated with Restrictive eating behaviour (P = 0.05, 0.003, 0.015, 0.05 respectively). Additionally, the CHRM1 rs2067477 locus was found to be associated with Emotional eating behaviour (P = 0.014), while the CHRNA5 rs16969968 and CHRNB4 rs17487223 gene polymorphisms were found to be associated with External eating behavior (P = 0.05, P = 0.036). The study revealed an association between polymorphic variants of the studied genes and both disturbed eating behaviour and T2DM.

Ожирение и аддиктивное пищевое поведение являются одними из основных факторов развития сахарного диабета 2-го типа (СД2). Гены мускариновых и никотиновых рецепторов продемонстрировали хорошую ассоциацию с рядом психических расстройств, что делает их потенциальным маркером при изучении предрасположенности к нарушенному пищевому поведению и СД2. Нами были исследованы образцы ДНК пациентов СД2 (N = 992) и контроля (N = 1023). Проведено тестирование пищевого поведения с использованием DEBQ. Методом ПЦР в реальном времени исследованы полиморфные локусы: CHRNA5 rs16969968, CHRNA3 rs1051730, CHRNB4 rs17487223, CHRM4 rs2067482, CHRNA3 rs578776, CHRM5 rs7162140, CHRM1 rs2067477, CHRNA7 rs3826029. Ассоциация с развитием СД2 была выявлена для генотипов AG-AA CHRNA5 rs16969968 (P = 0.0004, OR = 1.72), для аллеля A CHRNA3 rs1051730 (P = 0.00001, OR = 1.25), для аллеля Т CHRM5 rs7162140 (P = 0.051, OR = 1.90) и для аллеля А CHRM1 rs2067477 (P = 0.009, OR = 1.41). Показана ассоциация гаплотипа AA локуса CHRNA5 rs16969968 – CHRNA3 rs1051730 (P = 0.0004, OR = 1.37), а также гаплотипа AAT CHRNA5 rs16969968, CHRNA3 rs1051730 и CHRNB4 rs17487223 (P = 0.00005, OR = 1.34) с развитием СД2. Ассоциация с ограничительным пищевым поведением была выявлена для локусов CHRNA3 rs578776, CHRNA7 rs3826029, CHRM5 rs7162140 и CHRM1 rs2067477 (Р = 0.05, 0.003, 0.015, 0.05 соответственно), CHRM1 rs2067477 с эмоциогенным пищевым поведением (Р = 0.014) и генов CHRNA5 rs16969968 и CHRNB4 rs17487223 с экстернальным пищевым поведением (Р = 0.05, Р = 0.036). Полиморфные маркеры исследованных генов ассоциированы с нарушенным пищевым поведением и СД2.

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