Identification and Characterization of Variants in Intron 6 of the LPL Gene Locus among a Sample of the Kuwaiti Population

Abstract

Lipoprotein lipase (LPL) is responsible for the hydrolysis of lipoproteins; hence defective LPL is associated with metabolic disorders. Here, we identify certain intronic insertions and deletions (InDels) and single nucleotide polymorphisms (SNPs) in intron 6 of the LPL gene and investigate their associations with different phenotypic characteristics in a cohort of the general Kuwaiti population. Two specific regions of intron 6 of the LPL gene, which contain InDels, were amplified via Sanger sequencing in 729 subjects. Genotypic and allelic frequencies were estimated, and genetic modeling was used to investigate genetic associations of the identified variants with lipid profile, body mass index (BMI), and risk of coronary heart disease (CHD). A total of 16 variants were identified, including 2 InDels, 2 novel SNPs, and 12 known SNPs. The most common variants observed among the population were rs293, rs274, rs295, and rs294. The rs293 “A” insertion showed a significant positive correlation with elevated LDL levels, while rs295 was significantly associated with increased BMI. The rs274 and rs294 variants showed a protective effect of the minor allele with decreased CHD prevalence. These findings shed light on the possible role of LPL intronic variants on metabolic disorders.