title: ABCA1 single nucleotide polymorphisms on high-density lipoprotein-cholesterol and overweight: the D.E.S.I.R. study.
abstract: The adenosine triphosphate-binding cassette A1 (ABCA1) gene plays a key role in reverse cholesterol transport. Some ABCA1 gene polymorphisms have been associated with high-density lipoprotein-cholesterol (HDL-C) concentrations. The aim of this study was to assess the effect of three polymorphisms, C69T, G378C, and G1051A (R219K), on HDL-C levels and their interaction with BMI in more than 5000 French whites from the D.E.S.I.R. (Data from an Epidemiological Study on the Insulin Resistance syndrome) cohort study. The T allele of the C69T single nucleotide polymorphism (SNP) was associated with higher HDL-C levels in normal-weight men (BMI <25 kg/m(2)). The C allele of the G378C SNP was associated with lower HDL-C in overweight subjects (BMI > or =25 kg/m(2)). For the G1051A SNP, in the normal-weight group, the minor A allele was significantly associated with higher HDL-C levels. In contrast, in overweight people, the minor allele was associated with lower HDL-C levels. After accounting for multiple testing, empiric p values remained significant for the associations between G378C SNP and HDL-C in the overweight group and between G1051A SNP and HDL-C in the normal-weight group. This study suggests that ABCA1 gene polymorphisms modulate HDL-C concentrations, in interaction with BMI, and, thus, they might influence cardiovascular risk in the general population.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale, Unité 695, Xavier Bichat School of Medicine, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Porchay
authors.forename: Franck
authors.initials: F
authors.lastname: Péan
authors.forename: Naïma
authors.initials: N
authors.lastname: Bellili
authors.forename: Bernard
authors.initials: B
authors.lastname: Royer
authors.forename: Joël
authors.initials: J
authors.lastname: Cogneau
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Chesnier
authors.forename: Ariane
authors.initials: A
authors.lastname: Caradec
authors.forename: Jean
authors.initials: J
authors.lastname: Tichet
authors.forename: Beverley
authors.initials: B
authors.lastname: Balkau
authors.forename: Michel
authors.initials: M
authors.lastname: Marre
authors.forename: Frédéric
authors.initials: F
authors.lastname: Fumeron
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000097:blood / Q000235:genetics*; D000328:Adult; D000483:Alleles; D015992:Body Mass Index; D008076:Cholesterol, HDL / Q000097:blood*; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D050177:Overweight / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL