TLR 基因多态性与风湿性心脏病风险的关系

A. Sinitskaya, M. Khutornaya, O. Khryachkova, A. O. Poddubnyak, M. Sinitsky, M. A. Asanov, A. Ponasenko
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摘要

该研究旨在探讨TLR基因多态性与风湿性心脏病(RHD)风险之间的关系。本研究招募了 251 名风湿性心脏病患者(190 名女性和 61 名男性)和 300 名健康供体(190 名女性和 110 名男性),他们的年龄分别为 57 [29; 77] 岁和 53 [21; 80] 岁(中位数 [下四分位数;上四分位数])。通过实时 PCR 对 TLR 基因中的 8 个多态变体进行了基因分型。我们发现,在普通患者组中,TLR1、TLR2、TLR4 和 TLR6 基因中 8 个多态变异体的频率没有明显的统计学差异。按性别和年龄分层显示,与对照组(5.3%)相比,RHD 女性患者(11.6%)的 TLR1 基因 C/C 基因型(rs5743551)频率增加;隐性遗传模式的风险效应被确定(几率比 2.43,95% 置信区间 1.07-5.52,p = 0.029)。此外,TLR2 (rs5743708) - TLR4 (rs4689791) - TLR1 (rs5743551) - TLR2 (rs3804099) 的多态变异组合对 RHD 风险的影响最大。未来对不同人群的研究将有助于发现 RHD 发病的一般模式,从而最终确定治疗链球菌感染和预防 RHD 的治疗目标。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Associations of TLR gene polymorphism with the risk of rheumatic heart disease
Aim of the study was to investigate the associations between TLR gene polymorphism and the risk of rheumatic heart disease (RHD).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. 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. 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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