The APOB rs693 polymorphism impacts the lipid profile of Brazilian older adults

Abstract

The apolipoprotein B (APOB) gene contains several polymorphic sites described as risk modifiers for cardiovascular events. The objective of this study was to verify the association of the classic APOB Xba I polymorphism (rs693) with atherosclerotic risk factors in a segment of the Brazilian elderly population considering their usual dietary intake. Clinical and biochemical characteristics as well as total caloric and fat intake data were determined from 644 elderly individuals. Polymorphism analysis was performed by conventional polymerase chain reaction followed by enzyme restriction. Statistical analyses compared measures and proportions according to different APOB genotypic combinations. Statistically significant association was found between Xba I polymorphism and serum LDL, total cholesterol, and total lipid levels, with important elevations among T homozygotes compared to the other genotypes. There was homogeneity in all other parameters analyzed (including intake pattern), with a tendency for reduced levels of circulating apolipoprotein B among TT individuals. Our results pointed out that genetic variation in APOB affected the lipemic profile of elderly individuals in a context not biased by diet, generating a pattern suggestive of secretory disorder of lipoprotein particles, with possible implication in atherosclerotic risk.

Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study

“…Three-hydroxy-3-methylglutaryl-CoA reductase regulates cholesterol synthesis. Although the SNP rs33761740 has no linkage disequilibrium (LD) with ours, polymorphism in this SNP on HMGCR was associated with CHD in female subjects only [ 56 ].…”

Genetics of Cholesterol-Related Genes in Metabolic Syndrome: A Review of Current Evidence

“…Other SNPs cause no changes in translating the same amino acids, a condition known as silent mutation [ 17 ]. Although there are no changes in amino acids, silent mutations of specific SNPs are attributable to increased cardiovascular risks [ 21 ]. For instance, an rs693 polymorphism has been reported to cause an altered lipid profile [ 16 , 21 , 22 ].…”

“…Although there are no changes in amino acids, silent mutations of specific SNPs are attributable to increased cardiovascular risks [ 21 ]. For instance, an rs693 polymorphism has been reported to cause an altered lipid profile [ 16 , 21 , 22 ]. The SNP rs693 is located on the most extended exon of the APOB gene, with 7572 base pairs [ 17 ].…”

“…A study in an elderly Brazilian cohort reported significant associations between SNP rs693 and TC, total lipid and LDL levels, with homozygous TT demonstrating higher levels than the C-allele carriers [ 21 ]. Moreover, a case-control study on an Iranian population reported that T-allele carriers had a significantly higher risk of familial hypercholesterolemia than the non-carriers [ 23 ].…”

Association of XbaI polymorphism of ApoB gene with lipid profile, risk factors and dietary pattern in coronary artery disease Egyptian rural and urban patients

“…It also improves the clearance of lipoproteins rich in TG as chylomicrons, intermediatedensity lipoproteins (IDL), very low density lipoprotein cholesterol (VLDL) and low density lipoprotein cholesterol (LDL) and assists LDL binding to its receptor (Au et al, 2017). The Apo B gene contains over 5000 polymorphic sites; several sites are described as modifiers of cardiovascular risk (Alves et al, 2020). One of the most studied APO B polymorphisms is XbaI (rs693) polymorphisms.…”