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解偶联蛋白2基因多态性在撒丁岛人群缺血性中风风险中的作用。

Role of Uncoupling Protein 2 Gene Polymorphisms on the Risk of Ischemic Stroke in a Sardinian Population.

作者信息

Stanzione Rosita, Cotugno Maria, Forte Maurizio, Bianchi Franca, Marchitti Simona, Palomba Nicole Piera, Esposito Teresa, Zanda Bastianina, Sanna Alessandra, Rubattu Speranza

机构信息

IRCCS Neuromed, Località Camerelle, 86077 Pozzilli, Italy.

Institute of Genetic and Biophysics "Adriano Buzzati Traverso", Italian National Research Council (CNR), 80131 Naples, Italy.

出版信息

Life (Basel). 2022 May 12;12(5):721. doi: 10.3390/life12050721.

Abstract

The mitochondrial uncoupling protein 2 (UCP2) acts as an anion transporter and as an antioxidant factor able to reduce the reactive oxygen species level. Based on its effects, UCP2 prevents the membrane lipids, proteins, and DNA damage while preserving normal cellular functions. Many variants have been identified within the human . Some of them were associated with a higher risk of obesity, diabetes and cardiovascular diseases in different populations. appears a suitable candidate also for the risk of ischemic stroke. In the current study, we investigated the possible association between few variants of (rs659366, rs660339, rs1554995310) and the risk of ischemic stroke in a genetically homogenous cohort of cases and controls selected in Sardinia Island. This population has been previously analysed for other candidate genes. A total of 250 cases of ischemic stroke and 241 controls were enrolled in the study. The allelic/genotypic distribution of the 3 variants was characterized and compared among cases and controls. The results of our study confirmed known risk factors for ischemic stroke: age, history of smoking, hypertension, hypercholesterolemia, and atrial fibrillation. No association was found between the 3 variants and the risk of ischemic stroke in our Sardinian cohort.

摘要

线粒体解偶联蛋白2(UCP2)作为一种阴离子转运体,同时也是一种能够降低活性氧水平的抗氧化因子。基于其作用,UCP2可防止膜脂、蛋白质和DNA损伤,同时维持正常细胞功能。在人类中已鉴定出许多变体。其中一些与不同人群中肥胖、糖尿病和心血管疾病的较高风险相关。UCP2似乎也是缺血性中风风险的合适候选因素。在本研究中,我们调查了UCP2的几个变体(rs659366、rs660339、rs1554995310)与在撒丁岛选取的基因同质的病例和对照队列中缺血性中风风险之间的可能关联。该人群此前已针对其他候选基因进行过分析。本研究共纳入250例缺血性中风病例和241例对照。对这3个变体的等位基因/基因型分布进行了表征,并在病例和对照之间进行了比较。我们的研究结果证实了缺血性中风的已知风险因素:年龄、吸烟史、高血压、高胆固醇血症和心房颤动。在我们的撒丁岛队列中,未发现这3个变体与缺血性中风风险之间存在关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f887/9147365/298d254a7040/life-12-00721-g001.jpg

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