Apolipoprotein B 3′-VNTR polymorphism in Eastern European populations

Abstract

Apolipoprotein B 3 0 (3 0 ApoB) minisatellite polymorphism was studied in healthy unrelated individuals from the Russian Federation and the Republic of Belarus, in 10 populations from five ethnic groups: Russians, Byelorussians, Adygeis, Kalmyks and Yakuts. The analysis was carried out using PCR and electrophoresis followed by silver staining. Overall, 25 alleles of the 3 0 ApoB minisatellite, ranging from 25 to 55 repeats, were detected. Heterozygosity indices were high and varied from 0.73 to 0.84. The distributions of alleles of this minisatellite in the Caucasoid populations (Russians, Byelorussians and Adygeis) had a bimodal character, whereas that for Mongoloid populations (Kalmyks and Yakuts) had a unimodal distribution. Nei's genetic distances between the populations studied and some reference populations of Europe and Asia were estimated. Despite their allele distribution homogeneity, different East Slavonic ethnic groups were clearly resolved by multidimensional analyses. The East Slavonic and Adygei populations revealed a high similarity with European Caucasoids. The Mongoloid populations (Kalmyks and Yakuts) were considerably different from those of the European Caucasoid populations, but were similar to other Asian Mongoloid populations. The results demonstrate the variability of 3 0 ApoB minisatellite polymorphism not only in distant populations but also, to a certain extent, in genetically relative ones.

Association of APOB 3ʹ-VNTR alleles with type 2 diabetes, BMI, systolic and diastolic blood pressure

“…APOB protein is a component of chylomicrons, low-density lipoproteins (LDL), very low-density lipoproteins (VLDL), intermediate density lipoproteins (IDL) and functions as the main protein for transporting cholesterol to peripheral cells [1][2][3][4][5][6] . The plasma concentration of APOB protein reflects the total number of potentially atherogenic particles 2,4 and, therefore, is predictive of high risk of coronary heart disease that may not be otherwise detected from routine lipid profile 2,[7][8][9][10] .…”

“…Variable number of tandem repeats (VNTRs), also known as minisatellites, comprise a significant portion (~3%) of the human genome 13 . These are predominantly localized in the sub-telomeric region of chromosomes and have a core repeat unit of 10 to100 base pairs 6,14 . VNTRs are stably inherited in a Mendelian fashion across generations and DOI: http://dx.doi.org /10.3329/bjms.v17i1.35284 considered as the most informative markers for genetic characterization 15 .…”

“…VNTRs are stably inherited in a Mendelian fashion across generations and DOI: http://dx.doi.org /10.3329/bjms.v17i1.35284 considered as the most informative markers for genetic characterization 15 . Hyper-variable nature of many VNTR loci have found useful applications in genetic linkage analysis, forensic identification, paternity testing, anthropological research and phylogenetic studies 6,15,16 . One such VNTR is located 73bp upstream of the second polyadenylation signal at the 3ʹ-end of the human Apolipoprotein B (APOB) gene on the short arm of chromosome 2 15,17,18 .…”

Insights from human congenital disorders of intestinal lipid metabolism

“…It is noteworthy that the XbaI polymorphism was related to the inter-individual variability observed during postprandial lipemia, showing a signifi cantly augmented or reduced postprandial response ( 261,262 ). Particularly, a variable number of tandem repeats polymorphism, which is located 75 bp downstream of the second polyadenylation signal at the 3 ′ end of the Apo B gene (2p24-p23), has been found to be common in some ethnic groups (263)(264)(265)(266). They were associated with modifi cations of lipid concentrations (267)(268)(269)(270)(271) and the risk of coronary heart diseases ( 270-272 ).…”

Serum lipid abnormalities are not associated with apoB 3' VNTR polymorphism in nephrotic children

“…This locus is highly variable, and approximately 26 alleles have been reported (Destro-Bisol et al, 1994). Therefore, the apoB 3' VNTR is considered an informative marker for many applications, including linkage analysis, forensic identification, paternity testing, anthropological research, and phylogenetic studies (Batanian et al, 1998;Choong et al, 1999;Soares-Vieira et al, 2000;Verbenko et al, 2003;Khrunin et al, 2007).…”