在MMP-9和缺血性中风易感性之间存在潜在的关系rs2250889
Hanming Ge1, Xiaojuan Ma2, Jiachen Wang3
1Department of Neurology, Xi'an Key Laboratory of Cardiovascular and Cerebrovascular Diseases, Xi'an No. 3 Hospital, The Affiliated Hospital of Northwest University, Xi'an, Shaanxi, China.
Frontiers in neurology
|July 21, 2023
概括
矩阵金属化酶9 (MMP-9) 基因的遗传变异,特别是SNP rs2250889,与缺血性中风 (IS) 的风险增加有关. 这一发现有助于理解对IS的遗传倾向.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 缺血性中风 (IS) 是一种严重的脑血管疾病,具有相当大的健康影响.
- 遗传因素在IS的发展中起着至关重要的作用.
- 矩阵金属化酶9 (MMP-9) 基因与IS的病理生理学有关,并作为潜在的生物标志物.
研究的目的:
- 调查矩阵金属化酶9 (MMP-9) 基因多态化与缺血性中风 (IS) 易感性之间的关联.
- 在MMP-9基因内识别可能影响IS风险的特定单核酸多态 (SNPs).
主要方法:
- 在700名IS患者和700名使用MassARRAY的健康对照中,对MMP-9基因单核酸多态 (SNPs) 的基因定型.
- 应用多因素缩小维度 (MDR) 来分析SNP-SNP相互作用.
- 对等位基因和基因型频率,几率比率 (ORs) 和95%置信区间 (CI) 的统计分析以评估IS易感性.
主要成果:
- 在MMP-9基因中的SNPrs2250889与多个遗传模型 (共主导,主导,超主导,日志添加) 的IS易感性增加有显著关联.
- 分层分析显示,rs2250889与基于年龄,性别 (女性),吸烟状态和酒精消费 (不饮酒) 的子组中的IS风险有关.
- 在MDR分析中,rs2250889被确定为IS风险最具预测性的模型,交叉验证一致性为10/10和OR为1.56.
结论:
- 这项研究提供了初步证据,证实了MMP-9基因多态 rs2250889和易患缺血性中风之间的显著联系.
- 这些发现突显了MMP-9遗传变异在IS病因学中的潜在作用.
更多相关视频
09:38Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
Published on: November 14, 2017
15.0K
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
33.8K
相关概念视频
Genome-wide Association Studies-GWAS
13.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.6K
Single Nucleotide Polymorphisms-SNPs
15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K
