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基因变异与中国南方人群缺血性脑卒中易感性的相关性研究。

Genetic Variants of Contribute to Susceptibility of Ischemic Stroke among Southern Chinese Population.

机构信息

Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, China.

Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, China.

出版信息

Biomed Res Int. 2021 Apr 10;2021:6634253. doi: 10.1155/2021/6634253. eCollection 2021.

Abstract

Emerging evidence suggests that the long noncoding RNA (lncRNA) growth arrest special 5 (GAS5) plays crucial roles in the pathogenesis of ischemic stroke (IS). The current research is aimed at assessing the correlation between two functional variants (rs145204276 and rs55829688) and susceptibility to IS in a Han Chinese population. This study genotyped the two variants in 1086 IS patients as well as 1045 age-matched healthy controls by using an improved multitemperature ligase detection reaction (iMLDR-TM) genotyping technology. We observed a considerable change in the frequencies of the rs145204276 allele and genotype among the IS patients and healthy control group. The -T haplotype was substantially more prevalent in the IS cases compared to the control individuals. When study participants were stratified according to environmental factors, we found that the rs145204276 allele was correlated with a higher risk of IS in male, smokers, hypertensive, and those ≥65 years old. Additional stratification conforming to IS subtypes exhibited that individuals carrying the rs145204276 allele conferred a higher risk of expanding a larger artery atherosclerosis stroke subset. Moreover, there was a significant association between the rs145204276 allele and elevated expression of GAS5 in IS patients. In contrast, the frequency of the allele related to rs55829688 was not statistically correlated with IS in all analysis. Our study supports a model wherein the rs145204276 variant in the lncRNA is associated with IS risk, thus representing a potentially viable biomarker for IS prevention and treatment.

摘要

新出现的证据表明,长非编码 RNA(lncRNA)生长停滞特异性 5(GAS5)在缺血性中风(IS)的发病机制中起着至关重要的作用。目前的研究旨在评估两个功能变体(rs145204276 和 rs55829688)与汉族人群 IS 易感性之间的相关性。本研究通过改良多重温度连接酶检测反应(iMLDR-TM)基因分型技术,对 1086 例 IS 患者和 1045 名年龄匹配的健康对照者进行了这两种变体的基因分型。我们观察到 IS 患者和健康对照组 rs145204276 等位基因和基因型的频率有明显变化。-T 单倍型在 IS 病例中明显比对照个体更为普遍。当根据环境因素对研究参与者进行分层时,我们发现 rs145204276 等位基因与男性、吸烟者、高血压患者和≥65 岁人群的 IS 风险增加相关。根据 IS 亚型进行的进一步分层表明,携带 rs145204276 等位基因的个体患大动脉粥样硬化性卒中亚组的风险更高。此外,rs145204276 等位基因与 IS 患者 GAS5 表达升高之间存在显著关联。相比之下,rs55829688 相关等位基因的频率在所有分析中与 IS 均无统计学相关性。本研究支持这样一种模式,即在 lncRNA 中的 rs145204276 变体与 IS 风险相关,因此代表了 IS 预防和治疗的一个潜在可行的生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b0a/8055407/49078b6df73d/BMRI2021-6634253.001.jpg

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