Anales de la Facultad de Medicina
Introduction: Cardiovascular diseases are major causes de death in the world. The hepatic lipase (HL) gene promoter region presents a C-514T functional polymorphism related to enzyme activity, variation of lipoproteins levels and possible cardiovascular disease risk. Objectives: To determine the association of HL gene promoter region polymorphism with both nutritional indicators and lipoproteins levels in a healthy Peruvian sample. Design: Descriptive, transversal, associative study. Setting: Alberto Guzman Barron Biochemistry and Nutrition Research Center, Faculty of Medicine, Universidad Nacional Mayor de San Marcos. Participants: Ninety healthy male and female volunteers aged 18 to 58 years. Interventions: Genomic DNA was obtained from serum samples according to standard methodology. Anthropometric measurements and lipid profile by enzymatic methods were performed. Polymorphism C-514T in the HL gene was determined by polymerase chain reaction (PCR). PCR products were digested with NlaIII and fragments separated by polyacrilamyde gel electrophoresis (PAGE) and stained with silver nitrate. Main outcome measures: HL gene genotypes and alleles frequencies and relation with both lipid and nutritional parameters. Results: We found genotype frequencies CC=0,143; CT=0,593 and TT = 0,264, consistent with Hardy-Weinberg equilibrium (X2 =3,8024, g.l. = 1, p = 0,086). Alleles frequencies were C allele = 0,4395 and T allele = 0,5605. HDLc, LDLc, TAG cholesterol levels and subcutaneous fold, BMI and fat percentage averages in CC, CT and TT genotypes did not show significant differences (p>0,05). Nevertheless, when T allele was analyzed alone (genotypes CT and TT) according to age and sex there were significant differences (p<0,05) in some parameters. Conclusions: CT heterozygote and T allele, related to HL low activity were the most frequent genotypes in this Peruvian sample; in addition, presence of T allele was associated with variations in lipoprotein levels and nutritional factors which could have influence on cardiovascular diseases.