基因编码衔接蛋白 ST13 和 STIP1 多态性与缺血性脑卒中风险：一项初步研究。
Polymorphism in Genes Encoding Adaptor Proteins ST13 and STIP1 and the Risk of Ischemic Stroke: a Pilot Study.
机构信息
Laboratory of Statistical Genetics and Bioinformatics, Research Institute of Genetics and Molecular Epidemiology, Kursk State Medical University, Ministry of Health of the Russian Federation, Kursk, Russia.
Laboratory of Genomic Research, Research Institute of Genetic and Molecular Epidemiology, Kursk State Medical University, Ministry of Health of the Russian Federation, Kursk, Russia.
出版信息
Bull Exp Biol Med. 2024 Feb;176(4):477-480. doi: 10.1007/s10517-024-06050-x. Epub 2024 Mar 16.
Adaptor proteins stress induced phosphoprotein 1 (STIP1) and ST13 Hsp70 interacting protein (ST13) may play a crucial role in the pathophysiology of ischemic stroke through controlling protein folding, neuronal survival, and regulation of HSP70/HSP90. The present pilot study investigated whether tagSNPs in genes encoding ST13 (rs138335, rs138344, rs7290793, and rs138344) and STIP1 (rs4980524) are associated with ischemic stroke. DNA samples from 721 ischemic stroke patients and 471 healthy controls were genotyped using the MassArray-4. Our research revealed a relationship between rs138344 ST13 and the risk of ischemic stroke, which was seen only in females (risk allele G; OR=1.34, 95%CI=1.07-1.69; p=0.01). The haplotype rs138335G-rs138344C-rs7290793C ST13 was linked with lower risk of ischemic stroke in females: OR=0.42; 95%CI=0.26-0.68; p=0.0005. Thus, ST13 represents a novel genetic marker for ischemic stroke.
衔接蛋白应激诱导磷蛋白 1（STIP1）和 ST13 Hsp70 相互作用蛋白（ST13）可能通过控制蛋白质折叠、神经元存活和 HSP70/HSP90 的调节，在缺血性中风的病理生理学中发挥关键作用。本研究旨在探讨编码 ST13（rs138335、rs138344、rs7290793 和 rs138344）和 STIP1（rs4980524）的基因中的标签 SNP 是否与缺血性中风有关。使用 MassArray-4 对 721 名缺血性中风患者和 471 名健康对照者的 DNA 样本进行了基因分型。我们的研究表明，rs138344 与缺血性中风的风险相关，这一相关性仅见于女性（风险等位基因 G；OR=1.34，95%CI=1.07-1.69；p=0.01）。ST13 的 rs138335G-rs138344C-rs7290793C 单体型与女性缺血性中风的风险降低有关：OR=0.42；95%CI=0.26-0.68；p=0.0005。因此，ST13 代表缺血性中风的一个新的遗传标记。
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