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中国人群中多态性与中风风险的关联。

Association of polymorphisms with stroke risk in the Chinese population.

作者信息

Pan Jiaxing, Zhuo Qingqing, Chen Xu, Huang Xuehong, Shen Shiqiang, Yang Qiu, Luo Jiawen, Wang Suiyan, Jin Tianbo

机构信息

Department of Neurology, People's Hospital of Wanning, Wanning, Hainan, China.

Department of Nursing, People's Hospital of Wanning, Wanning, Hainan, China.

出版信息

Front Neurol. 2023 May 18;14:1095282. doi: 10.3389/fneur.2023.1095282. eCollection 2023.

DOI:10.3389/fneur.2023.1095282
PMID:37273686
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10232962/
Abstract

BACKGROUND

Stroke is a common cerebrovascular disease. The purpose of this study was to explore the association between single nucleotide polymorphisms (SNPs) and the risk of stroke in the Chinese population.

METHODS

This study recruited 710 stroke patients and 701 healthy controls. The four SNPs (rs690, rs6083, rs3829461, and rs6074) in were genotyped by the Agena MassARRAY. The correlation between polymorphisms and stroke risk was measured by odds ratio (OR) and 95% confidence interval (CI). In addition, multifactor dimensionality reduction (MDR) analysis was used to evaluate the impact of SNP-SNP interaction on stroke risk.

RESULTS

Overall analysis showed that rs690 was associated with an increased risk of stroke (T vs. G: OR = 1.19, 95% CI: 1.01-1.40, = 0.041; additive: OR = 1.20, 95% CI: 1.01-1.42, = 0.036). The stratified analysis revealed that rs690 was associated with an increased risk of stroke in subjects aged ≤ 64 years, male patients, and smokers, and rs6074 was associated with an increased risk of stroke in subjects aged > 64 years, male patients, drinkers, and non-smokers ( < 0.05). The results of the MDR analysis suggested the four-locus model as the most favorable model for assessing the risk of stroke. The analysis of clinical parameters of stroke patients showed that rs690 was correlated with platelet distribution width (PDW) ( = 0.014) and hematocrit levels ( = 0.004), and rs6074 was correlated with low-density lipoprotein cholesterol (LDL-C) level ( = 0.033). Furthermore, bioinformatics analysis results demonstrated that the expression levels of and its related genes (, and ) were significantly different between the control and stroke groups ( < 0.05), and -related proteins were mainly related to lipid metabolism.

CONCLUSION

This study indicated that rs690 and rs6074 in were significantly associated with increased risk of stroke in the Chinese population, possibly by regulating the levels of PDW, HCT, and LDL-C.

摘要

背景

中风是一种常见的脑血管疾病。本研究的目的是探讨单核苷酸多态性(SNP)与中国人群中风风险之间的关联。

方法

本研究招募了710例中风患者和701例健康对照。通过Agena MassARRAY对四个SNP(rs690、rs6083、rs3829461和rs6074)进行基因分型。通过优势比(OR)和95%置信区间(CI)来衡量多态性与中风风险之间的相关性。此外,使用多因素降维(MDR)分析来评估SNP-SNP相互作用对中风风险的影响。

结果

总体分析表明,rs690与中风风险增加相关(T与G相比:OR = 1.19,95% CI:1.01 - 1.40,P = 0.041;加性模型:OR = 1.20,95% CI:1.01 - 1.42,P = 0.036)。分层分析显示,rs690与年龄≤64岁的受试者、男性患者和吸烟者中风风险增加相关,而rs6074与年龄>64岁的受试者、男性患者、饮酒者和非吸烟者中风风险增加相关(P < 0.05)。MDR分析结果表明四位点模型是评估中风风险的最有利模型。对中风患者临床参数的分析表明,rs690与血小板分布宽度(PDW)(P = 0.014)和血细胞比容水平(P = 0.004)相关,rs6074与低密度脂蛋白胆固醇(LDL-C)水平(P = 0.033)相关。此外,生物信息学分析结果表明,对照组和中风组之间的表达水平及其相关基因(、和)存在显著差异(P < 0.05),且相关蛋白主要与脂质代谢有关。

结论

本研究表明,中的rs690和rs6074与中国人群中风风险增加显著相关,可能是通过调节PDW、HCT和LDL-C水平来实现的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/8aaa6a56c52a/fneur-14-1095282-g0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/150b94132632/fneur-14-1095282-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/ccba80785747/fneur-14-1095282-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/e179308d5917/fneur-14-1095282-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/77c12eb7ca31/fneur-14-1095282-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/8aaa6a56c52a/fneur-14-1095282-g0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/150b94132632/fneur-14-1095282-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/ccba80785747/fneur-14-1095282-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/e179308d5917/fneur-14-1095282-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/77c12eb7ca31/fneur-14-1095282-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e72e/10232962/8aaa6a56c52a/fneur-14-1095282-g0005.jpg

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