sibmedСибирский научный медицинский журналСибирский научный медицинский журнал2410-25122410-2520ИЦиГ СО РАН10.18699/SSMJ20230622sibmed-1324Research ArticleКЛИНИЧЕСКАЯ МЕДИЦИНАCLINICAL MEDICINEАссоциации полиморфных вариантов TLR с ревматической болезнью сердцаAssociations of TLR gene polymorphism with the risk of rheumatic heart diseasehttps://orcid.org/0000-0002-4467-8732СиницкаяА. В.SinitskayaA. V.

Синицкая Анна Викторовна - к.б.н.

650002, Кемерово, Сосновый б-р, 6

Anna V. Sinitskaya - candidate of biological sciences.

650002, Kemerovo, Sosnovyy blvd., 6

cepoav1991@gmail.comhttps://orcid.org/0000-0002-9714-4080ХуторнаяМ. В.KhutornayaM. V.

Хуторная Мария Владимировна

650002, Кемерово, Сосновый б-р, 6

Mariya V. Khutornaya

650002, Kemerovo, Sosnovyy blvd., 6

masha_hut@mail.ruhttps://orcid.org/0000-0002-6620-5960ХрячковаО. Н.KhryachkovaO. N.

Хрячкова Оксана Николаевна - к.б.н.

650002, Кемерово, Сосновый б-р, 6

Oksana N. Hryachkova - candidate of biological sciences.

650002, Kemerovo, Sosnovyy blvd., 6

oksana_hryachkova@mail.ruhttps://orcid.org/0000-0001-7388-356XПоддубнякА. О.PoddubnyakA. O.

Поддубняк Алена Олеговна

650002, Кемерово, Сосновый б-р, 6

Alena O. Poddubnyak

650002, Kemerovo, Sosnovyy blvd., 6

alyona.poddubnyak@gmail.comhttps://orcid.org/0000-0002-4824-2418СиницкийМ. Ю.SinitskyM. Yu.

Синицкий Максим Юрьевич - к.б.н.

650002, Кемерово, Сосновый б-р, 6

Maxim Yu. Sinitsky - candidate of biological sciences.

650002, Kemerovo, Sosnovyy blvd., 6

max-sinitsky@rambler.ruhttps://orcid.org/0000-0002-0747-2495АсановМ. А.AsanovM. A.

Асанов Максим Айдарович

650002, Кемерово, Сосновый б-р, 6

Maxim A. Asanov

650002, Kemerovo, Sosnovyy blvd., 6

asmaks988@gmail.comhttps://orcid.org/0000-0002-3002-2863ПонасенкоА. В.PonasenkoA. V.

Понасенко Анастасия Валериевна - к.м.н.

650002, Кемерово, Сосновый б-р, 6

Anastasia V. Ponasenko - candidate of medical sciences.

650002, Kemerovo, Sosnovyy blvd., 6

ponaav@kemcardio.ruНИИ комплексных проблем сердечно-сосудистых заболеванийРоссияResearch Institute for Complex Issues of Cardiovascular DiseasesRussian Federation202311012024436177184Copyright © Синицкая А.В., Хуторная М.В., Хрячкова О.Н., Поддубняк А.О., Синицкий М.Ю., Асанов М.А., Понасенко А.В., 20242024Синицкая А.В., Хуторная М.В., Хрячкова О.Н., Поддубняк А.О., Синицкий М.Ю., Асанов М.А., Понасенко А.В.Sinitskaya A.V., Khutornaya M.V., Khryachkova O.N., Poddubnyak A.O., Sinitsky M.Y., Asanov M.A., Ponasenko 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://sibmed.elpub.ru/jour/article/view/1324

Цель исследования – поиск ассоциаций полиморфных вариантов генов TLR c ревматической болезнью сердца (РБС).

Материал и методы

Материал и методы. Исследуемую группу составил 251 пациент с РБС (190 женщин и 61 мужчина), группа сравнения представлена 300 условно здоровыми донорами (190 женщин и 110 мужчин), возраст которых составил 57 [29; 77] и 53 [21; 80] года соответственно (медиана [нижняя квартиль; верхняя квартиль]). Методом ПЦР в режиме реального времени проведено генотипирование восьми полиморфных вариантов генов TLR.

Результаты

Результаты. Не установлено статистически значимых различий по частоте встречаемости генотипов восьми полиморфных вариантов генов TLR1, TLR2, TLR4 и TLR6 в общей выборке пациентов. Стратификация по полу и возрасту позволила выявить, что генотип С/С полиморфного варианта rs5743551 TLR1 чаще встречался в подгруппе женщин с РБС (11,6 %), чем в контрольной группе (5,3 %), для данного генотипа определен рисковый эффект по рецессивной модели наследования (отношение шансов 2,43, 95%-й доверительный интервал 1,07–5,52, p = 0,029). Дополнительно комбинация полиморфных локусов rs5743708 TLR2 – rs4689791 TLR4 – rs5743551 TLR1 – rs3804099 TLR2 показала наибольшую значимость при предрасположенности к РБС.

Заключение

Заключение. Проведение исследований в дальнейшем направлении и на различных популяциях позволит выявить общие закономерности патогенеза РБС, что в итоге приведет к установлению мишеней для дальнейшего терапевтического лечения стрептококковой инфекции и профилактики РБС.

Aim of the study was to investigate the associations between TLR gene polymorphism and the risk of rheumatic heart disease (RHD).

Material and methods

Material and methods. 251 RHD patients (190 females and 61 males) and 300 healthy donors (190 females and 110 males), whose age was 57 [29; 77] and 53 [21; 80] years (median [lower quartile; upper quartile]), respectively, were recruited in the presented study. Eight polymorphic variants in the TLR gene were genotyped by realtime PCR.

Results

Results. We found no statistically significant differences in the frequency of eight polymorphic variants in the TLR1, TLR2, TLR4 and TLR6 genes in the general group of patients. Stratification by gender and age showed that the frequency of the C/C genotype of the TLR1 gene (rs5743551) was increased in females with RHD (11.6 %) compared to the control group (5.3 %); a risk effect was determined for recessive inheritance patterns (odds ratio 2.43, 95 % confidence interval 1.07–5.52, p = 0.029). Moreover, the combination of polymorphic variants TLR2 (rs5743708) – TLR4 (rs4689791) – TLR1 (rs5743551) – TLR2 (rs3804099) showed the greatest significance in RHD risk.

Conclusions

Conclusions. Future research on the different populations will allow to discover the general patterns of RHD pathogenesis, which will finally lead to the establishment of therapeutic targets for treatment of streptococcal infection and RHD prevention.

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