Rosa Aledo1, Teresa Padró1, Pedro Mata2, Rodrigo Alonso2, Lina Badimon3. 1. Centro de Investigación Cardiovascular, CSIC-ICCC, IIBSant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. 2. Fundación Jiménez Díaz and Fundación Hipercolesterolemia Familiar, Madrid, Spain. 3. Centro de Investigación Cardiovascular, CSIC-ICCC, IIBSant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Cátedra de Investigación Cardiovascular-Universidad Autónoma de Barcelona, Barcelona, Spain. Electronic address: lbadimon@csic-iccc.org.
Abstract
INTRODUCTION AND OBJECTIVES: Recent genome-wide association studies have identified a locus on chromosome 12q13.3 associated with plasma levels of triglyceride and high-density lipoprotein cholesterol, with rs11613352 being the lead single nucleotide polymorphism in this genome-wide association study locus. The aim of the study is to investigate the involvement of rs11613352 in a population with high cardiovascular risk due to familial hypercholesterolemia. METHODS: The single nucleotide polymorphism was genotyped by Taqman(®) assay in a cohort of 601 unrelated familial hypercholesterolemia patients and its association with plasma triglyceride and high-density lipoprotein cholesterol levels was analyzed by multivariate methods based on linear regression. RESULTS: Minimal allele frequency was 0.17 and genotype frequencies were 0.69, 0.27, and 0.04 for CC, CT, and TT genotypes, respectively. The polymorphism is associated in a recessive manner (TT genotype) with a decrease in triglyceride levels (P=.002) and with an increase in high-density lipoprotein cholesterol levels (P=.021) after adjusting by age and sex. CONCLUSIONS: The polymorphism rs11613352 may contribute to modulate the cardiovascular risk by modifying plasma lipid levels in familial hypercholesterolemia patients.
INTRODUCTION AND OBJECTIVES: Recent genome-wide association studies have identified a locus on chromosome 12q13.3 associated with plasma levels of triglyceride and high-density lipoprotein cholesterol, with rs11613352 being the lead single nucleotide polymorphism in this genome-wide association study locus. The aim of the study is to investigate the involvement of rs11613352 in a population with high cardiovascular risk due to familial hypercholesterolemia. METHODS: The single nucleotide polymorphism was genotyped by Taqman(®) assay in a cohort of 601 unrelated familial hypercholesterolemiapatients and its association with plasma triglyceride and high-density lipoprotein cholesterol levels was analyzed by multivariate methods based on linear regression. RESULTS: Minimal allele frequency was 0.17 and genotype frequencies were 0.69, 0.27, and 0.04 for CC, CT, and TT genotypes, respectively. The polymorphism is associated in a recessive manner (TT genotype) with a decrease in triglyceride levels (P=.002) and with an increase in high-density lipoprotein cholesterol levels (P=.021) after adjusting by age and sex. CONCLUSIONS: The polymorphism rs11613352 may contribute to modulate the cardiovascular risk by modifying plasma lipid levels in familial hypercholesterolemiapatients.
Keywords:
Colesterol unido a lipoproteínas de alta densidad; Familial hypercholesterolemia; High-density lipoprotein cholesterol; Hipercolesterolemia familiar; Polimorfismo de un solo nucleótido; Single nucleotide polymorphism; Triglicéridos; Triglyceride