title: Apolipoprotein A-V gene polymorphisms in subjects with metabolic syndrome.
abstract: BACKGROUND
  Genetic variation at the apolipoprotein A-V locus, recently discovered proximal to the APOA1/C3/A4 gene cluster, is associated with elevated triglyceride concentrations, a risk factor for atherosclerosis.
  
  
  METHODS
  The goal of our study was to determine the association of two apolipoprotein A-V (APOA5) gene polymorphisms in a group of urban Romanian subjects with the prevalence of the metabolic syndrome. For this purpose, we assayed -1.131T>C and c.56C>G polymorphisms for 279 subjects divided into three groups: a control group, a metabolic syndrome group and a cardiovascular disease group. Then we correlated the minor allele frequencies with body mass index and biochemical parameters.
  
  
  RESULTS
  We obtained higher frequency for -1.131C compared to c.56G alleles, both mainly distributed in overweight subjects. Body mass index and triglyceride levels were higher in -1.131C allele carriers in metabolic syndrome patients, but were not significantly different in c.56G carriers compared to those with the native gene. Metabolic syndrome -1.131C homozygotes presented lower high-density lipoprotein cholesterol and higher glucose levels compared to subjects with the native gene. Total cholesterol, low-density lipoprotein cholesterol and insulin were not different between -1.131C or c.56G allele carriers and those with the native gene.
  
  
  CONCLUSIONS
  Our results demonstrate an independent risk for -1.131T>C APOA5 gene polymorphisms in the development of metabolic syndrome.
authors.affiliation: Department of Lipoproteins and Atherosclerosis, Institute of Cellular Biology and Pathology Nicolae Simionescu, Bucharest, Romania. loredan.niculescu@icbp.ro
authors.forename: Loredan Stefan
authors.initials: LS
authors.lastname: Niculescu
authors.forename: Jamila
authors.initials: J
authors.lastname: Fruchart-Najib
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Fruchart
authors.forename: Anca
authors.initials: A
authors.lastname: Sima
mesh_terms: D000483:Alleles; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A / Q000235:genetics* / Q000502:physiology*; D050197:Atherosclerosis / Q000235:genetics*; D002318:Cardiovascular Diseases / Q000235:genetics; D002784:Cholesterol / Q000378:metabolism; D005787:Gene Frequency; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D007328:Insulin / Q000378:metabolism; D024821:Metabolic Syndrome / Q000235:genetics*; D005810:Multigene Family; D009765:Obesity / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors; D014280:Triglycerides / Q000378:metabolism
chemical_list: C437704:APOA5 protein, human; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A; D007328:Insulin; D014280:Triglycerides; D002784:Cholesterol