Single nucleotide polymorphisms of APOA1 gene and their relationship with serum apolipoprotein A-I concentrations in the native population of Assam

Abstract

BackgroundThere is a growing interest in the role of allelic variants of the APOA1 gene in relation to a number of disorders. We described two common polymorphisms of the APOA1 gene, G-75A and C+83T and investigated their potential influence on the serum apolipoprotein A-I (apo A-I) levels in the native population of Assam — a region that is ethnically distinct and from where no information is hitherto available.MethodsBlood samples were collected from 150 healthy volunteers. Apo A-I levels were estimated by immunoturbidometry. Genotyping was done by a PCR-RFLP method that involved DNA extraction from whole blood, followed by polymerase chain reaction and digestion of the PCR product by MspI restriction enzyme, and analysis of fragment sizes in 12% polyacrylamide gel.ResultsThe GG variant at G-75A locus and CC variant at C+83T locus were the most prevalent. GG/CC was the most common combination. Homozygous TT genotype was not detected in any of the subjects. The rare allele frequencies for the G-75A and C+83T sites were found to be 0.22 and 0.06 respectively, which significantly differed from those reported in some other populations in neighbouring regions. Serum apo A-I concentrations did not vary significantly across the detected genotypes. These findings were consistent in both sexes.ConclusionWe described the distribution of the G-75A and C+83T polymorphisms of the APOA1 gene in the population of Assam for the first time. These polymorphisms were not found to directly influence apo A-I concentrations in this population either individually or synergistically.

Association Between MspI Polymorphisms of the Apolipoprotein A-I Gene and Hyperlipidemia in an Iranian Population

“…The previous studies of the apoAI polymorphism of these two loci were conducted in healthy individuals (13-15, 26, 30, 31). In our study, the allelic frequency results were similar to the previous studies in Iran (14), India (13,32), Kuwait, Japan (33), North America (31), and Africa (30), in the control and hyperlipidemic group. Unlike (G-75A) locus, in the case of rare alleles (-) of (C83T) variant, the hyperlipidemia allelic frequency was very different in comparison to other results.…”

“…In Press(In Press):e60496. 5 Heng et al (35), and Bora et al (13), the A allele had no effect on the concentration of apoAI protein in the blood. Of course, in our study, the concentration of lipids in the GG genotype was slightly higher than that for the other genotypes, but no significant difference was observed.…”

“…ApoAI, the main apolipoprotein of HDL, is a candidate gene for dyslipidemia pathophysiology. ApoAI gene polymorphisms can change the expression of apoAI and the blood level of the apoAI protein (13)(14)(15); therefore, many researchers are interested in the assessment of apoAI SNPs. ApoAI gene is a part of the apolipoprotein apoAI/CIII/AIV gene cluster located on chromosome 11q23 (16).…”

“…(G-75A) and (C83T), the most important polymorphic sites in the apoAI gene, are located in the upstream regulatory region and the first intron of apoAI gene, respectively (14). The (G-75A) and (C83T) polymorphic sites were evaluated in association with serum lipid and lipoproteins in the different study populations (13)(14)(15)25). been performed in the Semnan population, this study was designed.…”

Association of the Apolipoprotein A-I gene polymorphisms with cardiovascular disease risk factors and atherogenic indices in patients from assam, Northeast India

“…The G-75A site lies in the promoter region, while the C+83T site lies in the first intron of APOA1 [ 19 , 20 ]. These polymorphic sites are also cleavage sites for the restriction endonuclease, MspI and thus are amenable to detection by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) [ 15 , 16 , 21 ]. These SNPs are thought to influence several quantitative traits that are risk factors for CVD, such as: serum lipids [viz.…”