Shahzad Hj, Babar H, Shahid Mu, Bazai My, Ali A.
Lipoprotein Lipase Gene Polymorphism - Correlation With Serum Triglycerides Levels.
Biomedica Jan ;34(2):81-3.

Background and Objectives: Cholesterol (Total and LDL-cholesterol) level largely depends on lipoprotein metabolism. LPL gene rs328 (S447X) polymorphism is reported as gain of function by many investigators. Altered sequence of LPL mRNA showed less susceptibility to translation inhibition by adipocyte extract. Base change was found to be the possible cause of gain in function of LPL mRNA and resulted in lower susceptibility to inhibit-ion for translation. The aim of this study was to investigate the relationship of lipoprotein lipase (LPL) gene polymorphism with serum contents of triglycerides in the members of hyperlipidemia families. Methodology: We selected twenty families having hyperlipidemia and coronary heart disease history from different regions of Punjab. Lipid levels of all the family members were determined. Individuals with or without hyperlipidemia were subjected to genotyping for LPL polymorphism (rs328). The allelespecific PCR was performed using high throughput fluorescent based genotyping Kaspar assay. Observed genotypes were confirmed by sequencing. Results: Five families out of twenty were carrier of C>G transversion resulting in S474X change in LPL gene. Allele type and related lipid contents of each carrier family showed significant (p=0.04) increased levels of triglyceride in CC genotype compared to CG and GG genotypes. Similarly, HDL-cholesterol values were significantly raised (p=0.02) in CC genotypes than CG and GG. Conclusion: LPL genotype S474X is a common variant in Pakistani hyperlipidemia families that might have a possible role in triglycerides and HDL-cholesterol regulation. Screening of mutation negative families for S474X alleles could be helping for cardiovascular disease risk assessment.

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