C9orf16 (BBLN)基因编码Hero蛋白成员,是缺血性卒中风险的新标志物

Ksenia Kobzeva, Irina V. Shilenok, A. Belykh, Denis E. Gurtovoy, Lyubov A. Bobyleva, A. B. Krapiva, Tatiana A. Stetskaya, M. Bykanova, Anastasiya A. Mezhenskaya, E. Lysikova, M. Freidin, O. Bushueva
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The aim of the study: To investigate an association between a single nucleotide polymorphism rs2900262 in the gene encoding C9orf16 and predisposition to IS. Materials and methods: A total of 897 patients with IS and 1140 healthy controls were recruited for the study. Genotyping was done using a probe-based genotyping assay. Multiple logistic regression analysis was performed to evaluate the associations of the rs2900262 genotypes with the risk of IS and ischemic events. Dominant, recessive and additive models of associations of genotypes were analyzed. Adjustment for sex, age, and smoking was done throughout. Benjamini-Hogberg false-discovery rate was used to correct for multiple comparisons. Results: The rs2900262*T allele was found to be associated with the increased risk of IS exclusively in females (dominant model: OR=1.74, 95% CI=1.07-2.82, PFDR=0.042; additive model: OR=1.69, 95% CI=1.06-2.71, PFDR=0.042). 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引用次数: 5

摘要

背景:缺血性脑卒中(IS)是世界范围内导致死亡和残疾的主要原因。伴侣蛋白通过修复受损蛋白的结构来保护脑细胞免受缺血性损伤。Chaperone C9orf16(也称为BBLN)属于耐热模糊(HERO)蛋白类,具有稳定多种蛋白、抑制神经毒性和减少蛋白毒性应激的能力。在这方面,它可能在IS的发展风险和临床表现中发挥潜在的重要作用。研究目的:探讨编码C9orf16基因的单核苷酸多态性rs2900262与IS易感性之间的关系。材料与方法:共招募897名IS患者和1140名健康对照者参与研究。采用基于探针的基因分型试验进行基因分型。采用多元logistic回归分析评估rs2900262基因型与IS和缺血性事件风险的相关性。分析了基因型关联的显性、隐性和加性模型。性别、年龄和吸烟的调整贯穿始终。本雅明-霍格伯格错误发现率用于校正多重比较。结果:rs2900262*T等位基因仅在女性中与IS风险增加相关(显性模型:OR=1.74, 95% CI=1.07-2.82, PFDR=0.042;加性模型:OR=1.69, 95% CI=1.06-2.71, PFDR=0.042)。进一步分析显示,rs2900262*T仅与吸烟者is风险增加相关(优势模型:OR=1.92, 95% CI=1.09-3.37, PFDR=0.042;加性模型:OR=1.79, 95%CI=1.04-3.08, PFDR=0.042)。此外,我们发现C/T-T/T基因型携带者比C/C基因型携带者(61.63±0.4年)更早表现出IS(59.53±1.12年);平均差= -1.98;95% ci =-3.61 - -0.36;PFDR = 0.026。结论:本研究在国际上首次证实rs2900262 C9orf16基因多态性可能与缺血性脑卒中风险有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
C9orf16 (BBLN) gene, encoding a member of Hero proteins, is a novel marker in ischemic stroke risk
Background: Ischemic stroke (IS) is the leading cause of death and disability worldwide. Chaperone proteins protect brain cells from the ischemic damage by restoring the structures of damaged proteins. Chaperone C9orf16 (also known as BBLN) belongs to the class of heat-resistant obscure (HERO) proteins, characterized by the ability to stabilize various proteins, suppress neurotoxicity and reduce proteotoxic stress. In this regard, it may play a potentially significant role in the risk of development and clinical manifestations of IS. The aim of the study: To investigate an association between a single nucleotide polymorphism rs2900262 in the gene encoding C9orf16 and predisposition to IS. Materials and methods: A total of 897 patients with IS and 1140 healthy controls were recruited for the study. Genotyping was done using a probe-based genotyping assay. Multiple logistic regression analysis was performed to evaluate the associations of the rs2900262 genotypes with the risk of IS and ischemic events. Dominant, recessive and additive models of associations of genotypes were analyzed. Adjustment for sex, age, and smoking was done throughout. Benjamini-Hogberg false-discovery rate was used to correct for multiple comparisons. Results: The rs2900262*T allele was found to be associated with the increased risk of IS exclusively in females (dominant model: OR=1.74, 95% CI=1.07-2.82, PFDR=0.042; additive model: OR=1.69, 95% CI=1.06-2.71, PFDR=0.042). Additional analysis showed that the rs2900262*T is associated with the increased risk of IS in smokers only (dominant model: OR=1.92, 95% CI=1.09-3.37, PFDR=0.042; additive model: OR=1.79, 95%CI=1.04-3.08, PFDR=0.042). Also, we demonstrated that C/T-T/T genotype carriers exhibit an earlier manifestation of IS (59.53±1.12 years) compared to the C/C genotype carriers (61.63±0.4 years); mean difference=-1.98; 95% CI=-3.61 – -0.36; PFDR=0.026. Conclusion: This study is the first in the world to demonstrate the possible contribution of the rs2900262 C9orf16 gene polymorphism to the risk of ischemic stroke.
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