Polymorphism of the Apolipoprotein B Gene and Association with Plasma Lipid and Lipoprotein Levels in the Mongolian Buryat

Abstract

Allele frequencies at six RFLP sites (Ins/Del, ApaLI, AluI, XbaI, MspI, and EcoRI) of the apolipoprotein B gene (APOB) and the relationship of genotypes with plasma lipid and lipoprotein levels in the Mongolian Buryat were investigated. Common alleles at these sites in 110 Buryat subjects were I, G, A-, X-, M+, and E+; the frequencies of 0.809-0.991 differed strikingly from those of a few Asians and most Europeans. Five unambiguous haplotypes of all sites were revealed at 74%; haplotype IGA-X-M+E+ (000000) was the most frequent (67%), followed by IGA+X-M+E+ (001000) (19%). The frequency constitution differed significantly from the Chinese, Malaysians, and Caucasians but resembled the Indians. No APOB polymorphisms were associated with cholesterol levels (total, HDL and LDL). Significant associations of genotypes were shown with the triglyceride level only at the AluI and XbaI sites. The lipid level of A-A+ females or X-X+ males was higher than that of A-A- females or X-X- males, respectively.

Association between Insertion/Deletion Polymorphism of ApoB Gene with Dyslipidemia and Obesity Risk in Patients with Type 2 Diabetes

“…Also, Kammerer, et al among the Mexican American families has been found that homozygotes for the Del allele had significantly higher mean levels LDL-C than Ins homozygotes [29]. The results from our study disagree with Tsunoda and Cavalli, et al that exhibited no significant difference between ApoB Ins/Del polymorphism and lipid profile [30,31]. The findings of the present study indicate potential effects of the gene on dyslipidemia and obesity in patients with T2D.…”

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

“…A higher prevalence of atherosclerotic plaques in carotid arteries of T homozygotes has also been reported (13). Some studies have also found association of this polymorphism with CVD, increased apoB, TC, TG, and LDL levels, and decreased HDL levels (5,(14)(15)(16)(17). On the other hand, some studies found no association between these parameters (9,11,18).…”

Genetic association of APOB polymorphisms with variation in serum lipid profile among the Kuwait population

“…These include a common polymorphism (rs11279109) in the promoter region coding for the signal peptide. The deletion allele ( sp24, D ) codes for the 24-amino acid signal peptide that lacks the hydrophobic leucine-alanine-leucine residues affecting protein hydrophobicity [ 16 , 17 ], and has been shown to be associated with dyslipidemia, body mass index (BMI) and other phenotypes [ 18 – 22 ]. Other common polymorphisms are found in the coding sequences of exon 26, spanning 7572 bp [ 12 ] including a single nucleotide polymorphism (SNP) in the consensus sequence of the receptor-binding region [ 15 ] that can affect the binding affinity of the ligand to the LDL receptor [ 15 , 23 ].…”

“…SNPs, including codons 3611 (rs693) and 4154 (rs1801701), result in amino acid substitution of glutamine to arginine and glutamic acid to lysine, respectively. These SNPs have been shown to be associated with variation in total cholesterol (TC) and low density lipoprotein-cholesterol (LDL-C) levels [ 20 , 22 , 24 , 25 ]. In addition, another commonly studied polymorphism is found in the APOB gene in exon 29 (rs1042031) involves a silent mutation from cytosine to thymine in the third base of codon 2488 and has been reported to be associated with dyslipidemia [ 20 , 22 , 23 , 25 ].…”