Genetic polymorphisms in Sox17 associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study

Genetic polymorphisms in Sox17 associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study
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Sox17基因多态性与中国汉族颅内动脉瘤相关:基因型-表型研究

DOI:
10.2147/ndt.s193478
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发表时间:
2019-04
影响因子:
3.2
通讯作者:
Yang Xinyu
Yang Xinyu
中科院分区:
医学4区
文献类型:
--
作者:
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

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目的遗传因素在颅内动脉瘤(IA)的发生发展中起重要作用。研究不同人群中IA和Sox17基因的多态性之间的关系对于建立可信度是至关重要的。患者和方法收集中国多家医疗机构5 96例散发性IA患者和6 0 0例个体对照的血样。提取DNA后采用Sequenom Massarray系统进行单核苷酸多态(SNPs)基因分型。SNPs数据在Plink(1.9版)中进行了测试和分析。为了使统计更加严谨和准确,在PLINK中进行了多重检验。结果在中国汉族人群中,rs1072737的等位基因G(OR=1.303,基因组对照校正P值=0.001032)为易感等位基因,rs9298506的等位基因G(OR=0.7253,基因组对照校正P值=0.01559)为保护性等位基因。结论在中国汉族人群中,rs1072737等位基因G是IA的危险因素,rs9298506等位基因G是IA的保护因素。
Purpose Genetic factors play a vital role in intracranial aneurysm (IA) onset and development. Studying the relationship between IA and the Sox17 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 P-value =0.001032) is a risk allele, while the allelic G of rs9298506 (OR=0.7253, genomic-control corrected P-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.
DOI: 10.1038/ng.563
发表时间: 2010-05
期刊: Nature genetics
影响因子: 30.8
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DOI: 10.1111/j.2517-6161.1995.tb02031.x
发表时间: 1995-01-01
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通讯作者: HOCHBERG, Y
DOI: 10.1038/ng.240
发表时间: 2008-12
期刊: NATURE GENETICS
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DOI: 10.1086/379928
发表时间: 2003-12
影响因子: 9.8
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