title: Effects of ABCA1 SNPs, including the C-105T novel variant, on serum lipids of Brazilian individuals.
abstract: BACKGROUND
  ABCA1 plays an important role in HDL metabolism. Single nucleotide polymorphisms (SNPs) in ABCA1 gene were associated with variation in plasma HDL-c.
  
  
  METHODS
  The effect of the ABCA1 SNPs C-14T, R219K and of a novel variant C-105T on serum lipids was investigated in 367 unrelated Brazilian individuals (224 hypercholesterolemic and 143 normolipidemic). The relation between ABCA1 SNPs and the lipid-lowering response to atorvastatin (10 mg/day/4 weeks) was also evaluated in 141 hypercholesterolemic (HC) individuals. The polymorphisms were detected by PCR-RFLP and confirmed by DNA sequencing.
  
  
  RESULTS
  Linkage disequilibrium was found between the SNPs C-105T and C-14T in the HC group. HC individuals carrying -105CT/TT genotypes had higher serum HDL-c and lower triglyceride and VLDL-c concentrations as well as lower TG/HDL-c ratio compared to the -105CC carriers (p<0.05). The R219K SNP was associated with reduced serum triglyceride, VLDL-c and TG/HDL-c ratio in the HC group (p<0.05), and with an increased serum apoAI in NL individuals. The effects of ABCA1 SNPs on basal serum lipids of HC individuals were not modified by atorvastatin treatment.
  
  
  CONCLUSIONS
  The ABCA1 SNPs R219K and C-105T were associated with a less atherogenic lipid profile but not with the lowering-cholesterol response to atorvastatin in a Brazilian population.
authors.affiliation: Department of Clinical and Toxicological Analysis, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil. fabidalla@usp.br
authors.forename: Fabiana D V
authors.initials: FD
authors.lastname: Genvigir
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Soares
authors.forename: Mario H
authors.initials: MH
authors.lastname: Hirata
authors.forename: Maria Alice V
authors.initials: MA
authors.lastname: Willrich
authors.forename: Simone S
authors.initials: SS
authors.lastname: Arazi
authors.forename: Ivanise M M
authors.initials: IM
authors.lastname: Rebecchi
authors.forename: Raquel
authors.initials: R
authors.lastname: Oliveira
authors.forename: Marcia M S
authors.initials: MM
authors.lastname: Bernik
authors.forename: Egidio L
authors.initials: EL
authors.lastname: Dorea
authors.forename: Marcelo C
authors.initials: MC
authors.lastname: Bertolami
authors.forename: Rosario D C
authors.initials: RD
authors.lastname: Hirata
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D001938:Brazil; D017931:DNA Primers; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D008055:Lipids / Q000097:blood*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D008055:Lipids