Genetic association analysis of rs662799 ( − 1131A > G) polymorphism of APOA5 gene with morphometric and physio-metric traits using multiplex PCR

Abstract

Abstract Background The apolipoprotein A5 (APOA5) gene, significantly expressed in liver, has been involved in regulation of triglyceride metabolism, plasma lipid levels, serum adipokine levels and cardiovascular traits. A single-nucleotide polymorphism rs662799 ( − 1131A > G), 2 Kb upstream in the promoter region of this gene, causes decrease in the concentration of the product coded by this gene; hence, it may be responsible for impairments in normal function of the gene, ultimately leading to disease condition. Keeping in view the importance of APOA5 gene, the aim of the present study was to examine the association of genetic variant rs662799 of APOA5 gene with two quantitative traits simultaneously, viz. body mass index and blood pressure. Results The study involved a population of 246 subjects from North Indian region. Measurements of morphometric and physio-metric parameters were recorded using standard measures. Genotyping of APOA5 gene polymorphism (rs662799) using Tetra-primer amplification refractory mutation system PCR was performed. Statistical analyses were carried out using MS-Excel and SigmaPlot, and significance level was setup as p < 0.05. The allelic distribution of rs662799 polymorphism in this population was 77% for major allele (A) and 23% for minor allele (G). Significant association of rs662799 with increased body mass index and blood pressure was observed, with the presence of allele G. Under recessive genetic model, rs662799 polymorphism conferred a 17.71-fold risk of elevated body mass index (OR = 17.71, p < 0.001, CI (95%) = 4.05–77.46), and for increase in blood pressure, 3.79- and 3.83-fold risk of systolic blood pressure and diastolic blood pressure (OR = 3.792, p = 0.023, CI (95%) = 1.25–11.509 and OR = 3.83, p = 0.012, CI (95%) = 1.375–10.68, respectively) was observed. Under dominant genetic model, it showed a 3.060-fold risk of increase in body mass index (OR = 3.060, p < 0.001, CI (95%) = 1.78–5.25). Conclusions G allele of rs662799 of APOA5 gene showed significant susceptible association with BMI and BP. This study may be helpful for clinicians and researchers to investigate the diagnostic and prognostic value of the gene in question.