Genetic association of LPL rs1121923 and rs258 with plasma TG and VLDL levels

Abstract Lipoprotein lipase ( LPL ) is a rate-limiting enzyme for the hydrolysis of triglycerides (TG). Hundreds of genetic variants including single nucleotide polymorphisms have been identified across the 30Kb gene locus on chromosome 8q22. Several of these variants have been demonstrated to have genetic association with lipid level variation but many remain unresolved. Controversial reports on the genetic association of variants among different populations pose a challenge to which variants are informative. This study aimed to investigate “common” LPL variants (rs1121923, rs258, rs328, rs13702) and their possible role in plasma lipid level. Genotyping was performed using Realtime PCR. Based on the observed genotypes, the minor allele frequencies were A : 0.065 for rs1121923; C : 0.379 for rs258; G : 0.087 for rs328 and C : 0.337 for rs13702. Using linear regression, a lowering effect of rs1121923 (p = 0.024) on TG levels (−0.14 B coefficient: CI: −0.27–−0.019) and rs258 (p = 0.013) on VLDL levels ( B : −0.046; CI: −0.082–−0.009) was observed indicating a “protective” role for the two variants. Moreover, the findings indicate the potential for including rs1121923 and rs258 in diagnostic panels for use as an estimator of “risk” scores for dyslipidemia.