Shilenok Irina, Kobzeva Ksenia, Deykin Alexey, Pokrovsky Vladimir, Patrakhanov Evgeny, Bushueva Olga
Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 305041 Kursk, Russia.
Division of Neurology, Kursk Emergency Hospital, 305035 Kursk, Russia.
Life (Basel). 2024 Sep 12;14(9):1158. doi: 10.3390/life14091158.
The unique chaperone-like properties of C19orf53, discovered in 2020 as a "hero" protein, make it an intriguing subject for research in relation to ischemic stroke (IS). Our pilot study aimed to investigate whether C19orf53 SNPs are associated with IS. DNA samples from 2138 Russian subjects (947 IS and 1308 controls) were genotyped for 7 SNPs using probe-based PCR. Dominant (D), recessive (R), and log-additive (A) regression models in relation to the effect alleles (EA) were used to interpret associations. An increased risk of IS was associated with rs10104 (EA G; P = 0.0009; P = 0.0004), rs11666524 (EA A; P = 0.003; P = 0.02), rs346158 (EA C; P = 0.006; P = 0.045), and rs2277947 (EA A; P = 0.002; P = 0.01) in patients with obesity; with rs11666524 (EA A; P = 0.02), rs346157 (EA G; P = 0.036), rs346158 (EA C; P = 0.005), and rs2277947 (EA A; P = 0.02) in patients with low fruit and vegetable intake; and with rs10104 (EA G; P = 0.03) and rs11666524 (EA A; P = 0.048) in patients with low physical activity. In conclusion, our pilot study provides comprehensive genetic and bioinformatic evidence of the involvement of in IS risk.
C19orf53独特的分子伴侣样特性于2020年被发现,是一种“英雄”蛋白,这使其成为与缺血性中风(IS)相关研究的一个有趣课题。我们的初步研究旨在调查C19orf53单核苷酸多态性(SNP)是否与IS相关。使用基于探针的聚合酶链反应(PCR)对2138名俄罗斯受试者(947例IS患者和1308名对照)的DNA样本进行了7个SNP的基因分型。使用与效应等位基因(EA)相关的显性(D)、隐性(R)和对数加性(A)回归模型来解释关联。肥胖患者中,IS风险增加与rs10104(EA G;P = 0.0009;P = 0.0004)、rs11666524(EA A;P = 0.003;P = 0.02)、rs346158(EA C;P = 0.006;P = 0.045)和rs2277947(EA A;P = 0.002;P = 0.01)相关;水果和蔬菜摄入量低的患者中,与rs11666524(EA A;P = 0.02)、rs346157(EA G;P = 0.036)、rs346158(EA C;P = 0.005)和rs2277947(EA A;P = 0.02)相关;身体活动量低的患者中,与rs10104(EA G;P = 0.03)和rs11666524(EA A;P = 0.048)相关。总之,我们的初步研究提供了关于[此处原文缺失部分内容]参与IS风险的全面遗传和生物信息学证据。
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