Association Between HTRA1, GAS6 and IFNGR2 Gene Polymorphisms and Stroke Susceptibility in the Chinese Han Population.

IF 1.8 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI:10.2147/PGPM.S408911
Fan Zhang, Hao Peng, Chuanyi Fu, Yidong Deng, Mao Zhang, Wenan Li, Jian Zhong, Qing Zhou, Li Huang, Shuli Xiao, Jiannong Zhao
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Abstract

Background: Stroke has a high disability rate, and 30% of stroke cases have an unknown cause. Accurate diagnosis and treatment of stroke requires consideration of several rare heritable and non-heritable factors.

Objective: This study aimed to evaluate the impacts of three genetic polymorphisms (rs369149111 in HTRA1, rs1803628 in GAS6 and rs9808753 in IFNGR2) on stroke susceptibility among the Chinese Han population.

Methods: Three single nucleotide polymorphisms (SNPs) from 623 stroke cases and 572 healthy controls were genotyped by the Agena MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression analysis to evaluate the associations of three SNPs with stroke susceptibility. Additionally, SNP-SNP interactions were analyzed by multifactor dimensionality reduction (MDR).

Results: As demonstrated by the overall analysis, rs9808753 in IFNGR2 (allele: OR = 1.25, 95% CI = 1.06-1.47, p = 0.007; homozygous: OR = 1.59, 95% CI = 1.14-2.23, p = 0.007; dominant: OR = 1.31, 95% CI = 1.02-1.67, p = 0.032; recessive: OR = 1.42, 95% CI = 1.05-1.91, p = 0.022; additive: OR = 1.26, 95% CI = 1.07-1.48, p = 0.007) was associated with an increased susceptibility to stroke. Besides, stratification analysis suggested that rs9808753 was associated with an increased risk of stroke in subgroup aged ≤ 64 years, males and drinkers (p < 0.05). And rs1803628 in GAS6 was significantly associated with an increased susceptibility to stroke in non-smokers (p < 0.05).

Conclusion: A risk-increasing effect of IFNGR2 rs980875 on stroke was detected in this study, which further broadens the understanding of the relationship between genetic polymorphisms and stroke susceptibility.

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中国汉族人群HTRA1、GAS6和IFNGR2基因多态性与脑卒中易感性的关系
背景:卒中致残率高,30%的卒中病例病因不明。准确的诊断和治疗需要考虑一些罕见的遗传和非遗传因素。目的:本研究旨在评价3个遗传多态性(HTRA1基因rs369149111、GAS6基因rs1803628、IFNGR2基因rs9808753)对中国汉族人群脑卒中易感性的影响。方法:采用Agena MassARRAY平台对623例脑卒中患者和572例健康对照的3个单核苷酸多态性(snp)进行基因分型。通过logistic回归分析计算优势比(ORs)和95%置信区间(CIs),评估三个snp与卒中易感性的关系。此外,通过多因素降维(MDR)分析SNP-SNP相互作用。结果:综合分析显示,rs9808753在IFNGR2(等位基因:OR = 1.25, 95% CI = 1.06 ~ 1.47, p = 0.007;纯合子:OR = 1.59, 95% CI = 1.14-2.23, p = 0.007;显性:OR = 1.31, 95% CI = 1.02-1.67, p = 0.032;隐性:OR = 1.42, 95% CI = 1.05-1.91, p = 0.022;加性:OR = 1.26, 95% CI = 1.07-1.48, p = 0.007)与卒中易感性增加相关。此外,分层分析显示rs9808753与≤64岁亚组、男性和饮酒者卒中风险增加相关(p < 0.05)。GAS6中rs1803628与非吸烟者卒中易感性增加显著相关(p < 0.05)。结论:本研究检测到IFNGR2 rs980875对脑卒中具有增加风险的作用,进一步拓宽了对遗传多态性与脑卒中易感性关系的认识。
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来源期刊
Pharmacogenomics & Personalized Medicine
Pharmacogenomics & Personalized Medicine Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
3.30
自引率
5.30%
发文量
110
审稿时长
16 weeks
期刊介绍: Pharmacogenomics and Personalized Medicine is an international, peer-reviewed, open-access journal characterizing the influence of genotype on pharmacology leading to the development of personalized treatment programs and individualized drug selection for improved safety, efficacy and sustainability. In particular, emphasis will be given to: Genomic and proteomic profiling Genetics and drug metabolism Targeted drug identification and discovery Optimizing drug selection & dosage based on patient''s genetic profile Drug related morbidity & mortality intervention Advanced disease screening and targeted therapeutic intervention Genetic based vaccine development Patient satisfaction and preference Health economic evaluations Practical and organizational issues in the development and implementation of personalized medicine programs.
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