Zhang Fan, Peng Hao, Fu Chuanyi, Deng Yidong, Zhang Mao, Li Wenan, Zhong Jian, Zhou Qing, Huang Li, Xiao Shuli, Zhao Jiannong
Department of Cerebrovascular Disease, Hainan Affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, 570311, People's Republic of China.
Department of Neurosurgery, Hainan Medical University, Hainan Affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, 571199, People's Republic of China.
Pharmgenomics Pers Med. 2023 Jul 7;16:717-727. doi: 10.2147/PGPM.S408911. eCollection 2023.
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.
This study aimed to evaluate the impacts of three genetic polymorphisms (rs369149111 in , rs1803628 in and rs9808753 in ) on stroke susceptibility among the Chinese Han population.
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).
As demonstrated by the overall analysis, rs9808753 in (allele: OR = 1.25, 95% CI = 1.06-1.47, = 0.007; homozygous: OR = 1.59, 95% CI = 1.14-2.23, = 0.007; dominant: OR = 1.31, 95% CI = 1.02-1.67, = 0.032; recessive: OR = 1.42, 95% CI = 1.05-1.91, = 0.022; additive: OR = 1.26, 95% CI = 1.07-1.48, = 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 ( < 0.05). And rs1803628 in was significantly associated with an increased susceptibility to stroke in non-smokers ( < 0.05).
A risk-increasing effect of rs980875 on stroke was detected in this study, which further broadens the understanding of the relationship between genetic polymorphisms and stroke susceptibility.
中风致残率高,30%的中风病例病因不明。准确诊断和治疗中风需要考虑多种罕见的遗传和非遗传因素。
本研究旨在评估三种基因多态性(位于 中的rs369149111、位于 中的rs1803628和位于 中的rs9808753)对中国汉族人群中风易感性的影响。
采用Agena MassARRAY平台对623例中风病例和572例健康对照的三种单核苷酸多态性(SNP)进行基因分型。通过逻辑回归分析计算优势比(OR)和95%置信区间(CI),以评估三种SNP与中风易感性的关联。此外,采用多因素降维法(MDR)分析SNP-SNP相互作用。
总体分析表明,位于 中的rs9808753(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)与中风易感性增加相关。此外,分层分析表明,rs9808753在年龄≤64岁的亚组、男性和饮酒者中与中风风险增加相关(P < 0.05)。并且位于 中的rs1803628在不吸烟者中与中风易感性增加显著相关(P < 0.05)。
本研究检测到rs980875对中风有风险增加作用,这进一步拓宽了对基因多态性与中风易感性之间关系的理解。