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CAPN3 和 FRMD5 基因的整合变体、单倍型和双等位基因以及几种环境暴露因素与血清脂质变量相关。

Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables.

机构信息

Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Guangxi Medical University, Nanning 530021, Guangxi, People's Republic of China.

出版信息

Sci Rep. 2017 Mar 23;7:45119. doi: 10.1038/srep45119.

DOI:10.1038/srep45119
PMID:28332615
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5378954/
Abstract

To determine whether the integrative variants, haplotypes and diplotypes of the calpain 3 (CAPN3) and the FERM domain containing 5 genes (FRMD5) and several environmental exposures are associated with an implication in lipid homeostasis, which are associated with cardiovascular risk. Genotyping of the CAPN3 rs4344713 and FRMD5 rs524908 was performed by Sanger sequencing in 1,640 subjects (Jing, 819 and Han, 821). Multivariate analyses of covariance models that adjusted by age, gender, body mass index (BMI), blood pressure and lifestyle (smoking and drinking), were constructed using variants, haplotypes and diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908 as predictors and changes in lipid variables. Significant associations with low-density lipoprotein cholesterol and apolipoprotein (Apo) B were found. Linkage disequilibrium with each other showed the haplotype-phenotype associations with triglyceride and ApoA1. This study also suggested pleiotropic associations of the CAPN3-FRMD5 diplotypes with lipid variables. As potential confounders, diastolic blood pressure (DBP) and BMI were significantly associated with lipid variables. We conclude that integrative variants, haplotypes and diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908, as well as DBP and BMI are associated with serum lipid variables in the Jing and Han populations.

摘要

为了确定钙蛋白酶 3（CAPN3）和 FERM 域包含 5 个基因（FRMD5）的整合变体、单倍型和二倍型以及几种环境暴露是否与脂质稳态有关，这些与心血管风险有关。在 1640 名受试者（景族 819 名，汉族 821 名）中通过 Sanger 测序对 CAPN3 rs4344713 和 FRMD5 rs524908 进行基因分型。使用 CAPN3 rs4344713 和 FRMD5 rs524908 的变体、单倍型和二倍型作为预测因子，构建了调整年龄、性别、体重指数（BMI）、血压和生活方式（吸烟和饮酒）的多变量协方差模型，并对脂质变量进行了分析。发现与低密度脂蛋白胆固醇和载脂蛋白（Apo）B 有显著关联。彼此之间的连锁不平衡显示出与甘油三酯和 ApoA1 相关的单倍型表型关联。这项研究还表明 CAPN3-FRMD5 二倍型与脂质变量存在多效关联。作为潜在的混杂因素，舒张压（DBP）和 BMI 与脂质变量显著相关。我们得出结论，CAPN3 rs4344713 和 FRMD5 rs524908 的整合变体、单倍型和二倍型以及 DBP 和 BMI 与景族和汉族人群的血清脂质变量有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e372/5378954/8e98ea4e4e25/srep45119-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e372/5378954/b3d5d784027b/srep45119-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e372/5378954/055aca2f19b2/srep45119-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e372/5378954/8e98ea4e4e25/srep45119-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e372/5378954/b3d5d784027b/srep45119-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e372/5378954/055aca2f19b2/srep45119-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e372/5378954/8e98ea4e4e25/srep45119-f3.jpg

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