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冠心病和缺血性中风的单核苷酸多态性、基因-基因和基因-环境相互作用

, , and SNPs, Gene-Gene and Gene-Environment Interactions on Coronary Artery Disease and Ischemic Stroke.

作者信息

Liu Chun-Xiao, Yin Rui-Xing, Cao Xiao-Li, Shi Zong-Hu, Huang Feng, Wei Bi-Liu, Deng Guo-Xiong, Zheng Peng-Fei, Guan Yao-Zong

机构信息

Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning, China.

Department of Neurology, The First Affiliated Hospital, Guangxi Medical University, Nanning, China.

出版信息

Front Genet. 2022 Apr 26;13:843661. doi: 10.3389/fgene.2022.843661. eCollection 2022.

Abstract

The associations among the EH domain-binding protein 1 (), tubulin beta class I (), and WW domain-containing oxidoreductase () single nucleotide polymorphisms (SNPs) and coronary artery disease (CAD) and ischemic stroke (IS) are not yet understood. This study aimed to detect the associations of these SNPs, gene-gene and gene-environment interactions and CAD and IS in the Guangxi Han population. A total of 1853 unrelated subjects were recruited into normal control ( = 638), CAD ( = 622), and IS ( = 593) groups. Related genotypes were determined by high-throughput sequencing. The genotypic and minor allelic frequencies of rs2278075 were different between the CAD and control groups, and those of rs2710642, rs3130685, and rs2278075 were also different between the IS and control groups. The rs2278075T allele, rs3130685-rs2222896-rs2278075, rs3130685-rs2222896-diabetes, rs3130685-rs2222896-drinking, and haplotype rs2710642A-rs10496099C-diabetes interactions were associated with increased risk, while G-T-G-C-G-A and G-T-T-T-G-T-drinking were associated with reduced risk of CAD. The rs2278075T and rs2710642G alleles, rs2710642G-rs10496099C haplotype, rs3130685-rs2278075-rs2222896, and rs2710642-rs2278075-hypertension interactions aggravated the association with IS, whereas the rs3130685T allele, rs2710642A-rs10496099C haplotype and the interactions of H1 (s2710642A-rs10496099C)-H2 (rs2710642G-rs10496099C)-drinking and I1 (A-C-G-C-A-A)-I3 (A-C-G-T-A-A)-I4 (A-C-G-T-G-A)-I5 (G-T-G-C-G-A) diminished the association with IS. Carrying rs2278075T was strongly associated with CAD or IS, while rs2710642 and rs3130685 might alter the association of IS by modifying the serum lipid profile. This study demonstrates that the , , and SNPs, gene-gene and gene-environment interactions are associated with the risk of CAD and IS in the Guangxi Han population.

摘要

EH结构域结合蛋白1()、微管蛋白βI类()和含WW结构域氧化还原酶()的单核苷酸多态性(SNP)与冠状动脉疾病(CAD)和缺血性卒中(IS)之间的关联尚不清楚。本研究旨在检测广西汉族人群中这些SNP、基因-基因和基因-环境相互作用与CAD和IS的关联。共招募了1853名无亲缘关系的受试者,分为正常对照组(=638)、CAD组(=622)和IS组(=593)。通过高通量测序确定相关基因型。CAD组与对照组之间rs2278075的基因型和次要等位基因频率不同,IS组与对照组之间rs2710642、rs3130685和rs2278075的基因型和次要等位基因频率也不同。rs2278075T等位基因、rs3130685-rs2222896-rs2278075、rs3130685-rs2222896-糖尿病、rs3130685-rs2222896-饮酒以及单倍型rs2710642A-rs10496099C-糖尿病相互作用与CAD风险增加相关,而G-T-G-C-G-A和G-T-T-T-G-T-饮酒与CAD风险降低相关。rs2278075T和rs2710642G等位基因、rs2710642G-rs10496099C单倍型、rs3130685-rs2278075-rs2222896以及rs2710642-rs2278075-高血压相互作用加剧了与IS的关联,而rs3130685T等位基因、rs2710642A-rs10496099C单倍型以及H1(s2710642A-rs10496099C)-H2(rs2710642G-rs10496099C)-饮酒和I1(A-C-G-C-A-A)-I3(A-C-G-T-A-A)-I4(A-C-G-T-G-A)-I5(G-T-G-C-G-A)相互作用减弱了与IS的关联。携带rs2278075T与CAD或IS密切相关,而rs2710642和rs3130685可能通过改变血脂谱改变IS的关联。本研究表明,、和SNP、基因-基因和基因-环境相互作用与广西汉族人群中CAD和IS的风险相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82dd/9086287/c565b0f34dda/fgene-13-843661-g001.jpg

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