Russian Journal of GeneticsRussian Journal of GeneticsГенетика0016-67583034-5103The Russian Academy of Sciences68220310.31857/S0016675825040065UAUPSTГЕНЕТИКА ЧЕЛОВЕКАResearch ArticleThe role of polymorphic markers of the FOXP3 gene in the development of essential arterial hypertensionРоль полиморфных маркеров гена FOXP3 в развитии эссенциальной артериальной гипертензииTopchievaL. V.ТопчиеваЛ. В.
Russian Federation
topchieva67@mail.ruKurbatovaI. V.КурбатоваИ. В.
Russian Federation
topchieva67@mail.ruKornevaV. А.КорневаВ. А.
Russian Federation
topchieva67@mail.ruZhulaiG. А.ЖулайГ. А.
Russian Federation
topchieva67@mail.ruInstitute of Biology of Karelian Research Centre Russian Academy of SciencesФедеральный исследовательский центр «Карельский научный центр Российской академии наук»Petrozavodsk State UniversityПетрозаводский государственный университет27042025614556503062025Copyright ©; 2025, Russian Academy of SciencesCopyright ©; 2025, Российская академия наук2025Russian Academy of SciencesРоссийская академия наукhttps://transsyst.ru/0016-6758/article/view/682203

The association of polymorphic loci –924A>G (rs2232365) and –3279C>A (rs3761548) of the FOXP3 gene with the risk of developing essential arterial hypertension was studied. A total of 151 DNA samples from healthy individuals and 155 DNA samples from patients with EAH (stages I–II) were used. The frequency of occurrence of the –924A>G (rs2232365) polymorphic marker of the FOXP3 gene was almost the same in the groups of conditionally healthy individuals and patients with EAH (χ2 = 0.07 and χ2 = 0.42, p > 0.05, respectively, for alleles and genotypes). The frequency of the CC genotype for the –3279C>A (rs3761548) marker of the FOXP3 gene was higher in the group of patients with hypertension (χ2 = 5.67, p = 0.018). An association was found between the carriage of the CC genotype for rs3761548 and the risk of developing hypertension (OR = 1.967 (95%CI 1.12–3.45)). The level of FOXP3 gene transcripts in peripheral blood leukocytes of healthy people did not depend on the carriage of allelic variants for rs2232365 and rs3761548 (p > 0.05). In carriers of the C allele for the polymorphic marker rs3761548, the content of IL-10 and IL-2 in the blood plasma was lower than in individuals with the AA genotype (p = 0.025, p = 0.017, respectively). The polymorphic marker –3279C>A of the FOXP3 gene is involved in the predisposition of Karelia residents to the development of EAH, probably through the effect on the level of IL-10 and IL-2.

Исследована связь полиморфных локусов –924A>G (rs2232365) и –3279С>А (rs3761548) гена FOXP3 с риском развития эссенциальной артериальной гипертензии (ЭАГ). Использовали 151 образeц ДНК здоровых людей и 155 образцов ДНК пациентов с ЭАГ (I–II стадии). Частота встречаемости по –924A>G (rs2232365) полиморфному маркеру гена FOXP3 оказалась практически одинаковой в группах условно здоровых людей и пациентов с ЭАГ (χ2 = 0.07 и χ2 = 0.42, p > 0.05 соответственно для аллелей и генотипов). Частота генотипа СС по –3279С>А (rs3761548) маркеру гена FOXP3 оказалась выше в группе больных ЭАГ (χ2 = 5.67, р = 0.018). Выявлена связь носительства генотипа СС по rs3761548 с риском развития ЭАГ (ОШ = 1.967 (95%ДИ 1.12–3.45)). Уровень транскриптов гена FOXP3 в лейкоцитах периферической крови здоровых людей не зависел от носительства аллельных вариантов по rs2232365 и rs3761548 (р > 0.05). У носителей аллеля С по полиморфному маркеру rs3761548 содержание ИЛ-10 и ИЛ-2 в плазме крови было ниже, чем у лиц с генотипом АА (р = 0.025, р = 0.017 соответственно). Полиморфный маркер –3279С>А гена FOXP3 вовлечен в предрасположенность жителей Карелии к развитию ЭАГ, вероятно, посредством влияния на уровень ИЛ-10 и ИЛ-2.

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