Identification of a New Single‑nucleotide Polymorphism within the Apolipoprotein A5 Gene, Which is Associated with Metabolic Syndrome

Metabolic syndrome (MetS) is a common disorder which is a constellation of clinical features including abdominal obesity, increased level of serum triglycerides (TGs) and decrease of serum high‑density lipoprotein‑cholesterol (HDL‑C), elevated blood pressure, and glucose intolerance. The apolipoprotein A5 (APOA5) is involved in lipid metabolism, influencing the level of plasma TG and HDL‑C. In the present study, we aimed to investigate the associations between four INDEL variants of APOA5 gene and the MetS risk.

In this case–control study, we genotyped 116 Iranian children and adolescents with/without MetS by using Sanger sequencing method for these INDELs. Then, we explored the association of INDELs with MetS risk and their clinical components by logistic regression and one‑way analysis of variance analyses.

We identified a novel insertion polymorphism, c. *282–283 insAG/c. *282–283 insG variant, which appears among case and control groups. rs72525532 showed a significant difference for TG levels between various genotype groups. In addition, there were significant associations between newly identified single‑nucleotide polymorphism (SNP) and rs72525532 with MetS risk.

These results show that rs72525532 and the newly identified SNP may influence the susceptibility of the individuals to MetS.