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.
Highlights
The Lipoprotein lipase (LPL) gene codes for the 475-amino acid enzyme responsible for the hydrolysis of triglycerides to free fatty acid and is an important catalyst in lipid metabolism and transport pathways
A common approach would be to select a representative SNP that is in strong Linkage disequilibrium with other SNPs and that the selected tagged SNPs would represent the different haplogroups across the LPL gene
Deo et al identified 12 risk variants at the LPL gene locus associated with TG levels, four of which are included in this study
Summary
The LPL gene codes for the 475-amino acid enzyme responsible for the hydrolysis of triglycerides to free fatty acid and is an important catalyst in lipid metabolism and transport pathways. A common approach would be to select a representative SNP that is in strong Linkage disequilibrium with other SNPs and that the selected tagged SNPs would represent the different haplogroups across the LPL gene. The model implies that genetic variants which occur at high frequencies among the general population would increase the susceptibility to the disease but with a small “effect size”[7] With this approach in mind, the present study aimed to investigate common LPL variants with a global minor frequency above 5% among the general Kuwaiti population to assess their role in contributing to fluctuations in plasma lipid levels, triglycerides (TG) and high-density lipoprotein-Cholesterol (HDL-C). Several studies have suggested that rs13702 is a strong candidate for TG and HDL-C and TG levels[4,8,23]
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