title: rs11613352 polymorphism (TT genotype) associates with a decrease of triglycerides and an increase of HDL in familial hypercholesterolemia patients.
abstract: OBJECTIVE
  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.
authors.affiliation: Centro de Investigación Cardiovascular, CSIC-ICCC, IIBSant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Aledo
authors.affiliation: Centro de Investigación Cardiovascular, CSIC-ICCC, IIBSant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Padró
authors.affiliation: Fundación Jiménez Díaz and Fundación Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
authors.affiliation: Fundación Jiménez Díaz and Fundación Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.affiliation: 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.
authors.forename: Lina
authors.initials: L
authors.lastname: Badimon
mesh_terms: D000328:Adult; D008076:Cholesterol, HDL / Q000097:blood*; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014280:Triglycerides / Q000097:blood*
chemical_list: D008076:Cholesterol, HDL; D014280:Triglycerides; D004247:DNA
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