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中国汉族人群中与颅内动脉瘤相关的基因多态性:一项基因型-表型研究。

Genetic polymorphisms in associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study.

作者信息

Li Mengqi, Wang Weihan, Zhang Lin, Xin Wenqiang, Zhao Yan, Huan Linchun, Yu Jianjun, Zhang Hao, Zhang Jianning, Yang Shuyuan, Liang Degang, Yang Weidong, Yang Xinyu

机构信息

Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin, People's Republic of China,

Key Laboratory of Post-Neurotrauma Neurorepair and Regeneration in Central Nervous System, Ministry of Education in China and Tianjin, Tianjin Neurological Institute, Tianjin, People's Republic of China,

出版信息

Neuropsychiatr Dis Treat. 2019 Apr 2;15:779-783. doi: 10.2147/NDT.S193478. eCollection 2019.

DOI:10.2147/NDT.S193478
PMID:31040677
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6452799/
Abstract

PURPOSE

Genetic factors play a vital role in intracranial aneurysm (IA) onset and development. Studying the relationship between IA and the polymorphisms in diverse populations is essential for establishing credibility.

PATIENTS AND METHODS

We collected blood samples derived from a total of 596 sporadic IA patients and 600 individual controls in several medical institutes in China. We used the Sequenom MassArray system for single nucleotide polymorphisms (SNPs) genotyping after DNA extraction. The SNPs data was tested and analyzed in PLINK (version 1.9). Multiple-testing was performed in PLINK to make the statistics more rigorous and accurate.

RESULTS

We found that the allelic G of rs1072737 (OR=1.303, genomic-control corrected -value =0.001032) is a risk allele, while the allelic G of rs9298506 (OR=0.7253, genomic-control corrected -value =0.01559) is a protective allele in Chinese Han people.

CONCLUSION

The allelic G of rs1072737 is a risk factor for IA, while the allelic G of rs9298506 serves as a protective factor for IA in Chinese Han people.

摘要

目的

遗传因素在颅内动脉瘤(IA)的发生和发展中起着至关重要的作用。研究IA与不同人群基因多态性之间的关系对于确立其可信度至关重要。

患者与方法

我们在中国的几家医疗机构收集了总共596例散发性IA患者和600例个体对照的血样。DNA提取后,我们使用Sequenom MassArray系统进行单核苷酸多态性(SNP)基因分型。SNP数据在PLINK(版本1.9)中进行测试和分析。在PLINK中进行多重检验以使统计更加严谨和准确。

结果

我们发现,在中国汉族人群中,rs1072737的等位基因G(OR = 1.303,基因组对照校正P值= 0.001032)是一个风险等位基因,而rs9298506的等位基因G(OR = 0.7253,基因组对照校正P值= 0.01559)是一个保护等位基因。

结论

在中国汉族人群中,rs1072737的等位基因G是IA的一个风险因素,而rs9298506的等位基因G是IA的一个保护因素。

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