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

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.

SYTL3–SLC22A3 Single-Nucleotide Polymorphisms and Gene–Gene/Environment Interactions on the Risk of Hyperlipidemia

“…TC, total cholesterol; TG, triglyceride; HDL-C, high-density lipoprotein cholesterol; LDL-C, low-density lipoprotein cholesterol; ApoA1, apolipoprotein A1; ApoB, apolipoprotein B; ApoA1/B, the ratio of apolipoprotein A1 to apolipoprotein B; BMI, body mass index; Glu, glucose; SBP, systolic blood pressure; DBP, diastolic blood pressure; WC, waist circumference. Joffe et al, 2013;Guo et al, 2017). Likewise, our investigation also produced a significant relationship between age, alcohol consumption, blood pressure, BMI, cigarette smoking, gender, and serum lipid profile in both the Han and Maonan groups, further lending credence to the gene-environment relationship involvement in clinical lipid parameters.…”

Proteomic analysis of the response of Trichinella spiralis muscle larvae to exogenous nitric oxide

“…Guo et al . reported that the FRMD5 gene was associated with lipid homeostasis [ 43 ]. It has been demonstrated that iNOS overexpression or NO donors increased cell death receptor expression and upregulated the p53 pathway [ 44 ].…”

Integrating hypertension phenotype and genotype with hybrid non-negative matrix factorization

“…Study participants were clustered into two distinct groups that differed markedly in clinical characteristics, cardiac structure/function, and indices of cardiac mechanics. Guo et al (2017) used K-means clustering of phenotypic data (clinical and blood pressure characteristics) and found four groups of interest. However, neither of these studies utilized genetic data, which could have provided an additional important dimension to the clustering of hypertension, particularly when combined with phenotypic data.…”