PITX2 基因变异对汉族人群卒中易感性的影响。
Effect of PITX2 genetic variants on the susceptibility to stroke in the Chinese Han population.
机构信息
College of Life Sciences, Northwest University, Xi'an, Shaanxi province 710069, China; Provincial Key Laboratory of Biotechnology of Shaanxi, Northwest University, Xi'an, Shaanxi province, 710069, China; Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Northwest University, Xi'an, Shaanxi province 710069, China; Quality Control Department, Internal Medicine-Neurology, Xi'an First Hospital, First Affiliated Hospital of Northwestern University, Xi'an, Shaanxi province 710002, China.
College of Life Sciences, Northwest University, Xi'an, Shaanxi province 710069, China; Provincial Key Laboratory of Biotechnology of Shaanxi, Northwest University, Xi'an, Shaanxi province, 710069, China; Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Northwest University, Xi'an, Shaanxi province 710069, China.
出版信息
Infect Genet Evol. 2022 Mar;98:105201. doi: 10.1016/j.meegid.2021.105201. Epub 2022 Jan 4.
PURPOSE
Stroke is a multifactorial and complex disease caused by the obstruction or rupture of cerebrovascular. To explore the influence of genetic factors on stroke susceptibility, we investigated the association between four single nucleotide polymorphisms (SNPs) in the paired-like homeodomain transcription factor 2 (PITX2) gene and stroke risk.
METHODS
A total of 977 volunteers including 476 stroke patients and 501 control individuals were recruited. The association between PITX2 polymorphisms and stroke risk was evaluated using genetic models and haplotype analyses. The strength of the association between each studied polymorphisms and stroke risk was evaluated by calculating odds ratios (ORs) and 95% confidence intervals (CIs). What's more, multifactor dimensionality reduction (MDR) was used to predict the interaction between SNPs.
RESULTS
Our study showed that rs6817105 in PITX2 was related to a significant increase in stroke susceptibility (OR = 1.42, 95% CI = 1.04-1.94, p = 0.028). Stratified analyses based on gender indicated that rs6817105, rs13143308, and rs6843082 polymorphisms were significantly associated with an increased risk of stroke in male (OR = 0.68, 95% CI = 0.47-0.99, p = 0.042; OR = 0.53, 95% CI = 0.30-0.96, p = 0.035; and OR = 0.55, 95% CI = 0.30-0.99, p = 0.047). Besides, SNP rs6817105 was significantly increased the risk of stroke in people at age over 65 years (OR = 1.87, 95% CI =1.12-3.11, p = 0.016). MDR showed that the interaction model of rs6817105 and rs3853445 emerged as the best predictor between the PITX2 gene and stroke susceptibility.
CONCLUSIONS
This study indicated that there was a significant association between the PITX2 gene and stroke risk, and provided some data as far as possible to support the prevention of stroke.
目的
中风是一种由脑血管阻塞或破裂引起的多因素复杂疾病。为了探讨遗传因素对中风易感性的影响，我们研究了配对同源结构域转录因子 2（PITX2）基因中的四个单核苷酸多态性（SNP）与中风风险之间的关系。
方法
共招募了 977 名志愿者，包括 476 名中风患者和 501 名对照个体。使用遗传模型和单倍型分析评估 PITX2 多态性与中风风险的关联。通过计算比值比（OR）和 95％置信区间（CI）来评估每个研究的多态性与中风风险之间的关联强度。此外，还使用多维降维分析（MDR）来预测 SNP 之间的相互作用。
结果
我们的研究表明，PITX2 中的 rs6817105 与中风易感性显著增加相关（OR=1.42，95％CI=1.04-1.94，p=0.028）。基于性别进行的分层分析表明，rs6817105、rs13143308 和 rs6843082 多态性与男性中风风险增加显著相关（OR=0.68，95％CI=0.47-0.99，p=0.042；OR=0.53，95％CI=0.30-0.96，p=0.035；OR=0.55，95％CI=0.30-0.99，p=0.047）。此外，SNP rs6817105 还显著增加了 65 岁以上人群的中风风险（OR=1.87，95％CI=1.12-3.11，p=0.016）。MDR 显示，PITX2 基因与中风易感性之间最佳预测模型为 rs6817105 与 rs3853445 的交互模型。
结论
本研究表明 PITX2 基因与中风风险之间存在显著关联，并提供了尽可能多的数据支持中风的预防。
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