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Effects of ABCA1 SNPs, including the C-105T novel variant, on serum lipids of Brazilian individuals

  • GENVIGIR, Fabiana D. V.
  • SOARES, Sarah A.
  • HIRATA, Mario H.
  • WILLRICH, Maria Alice V.
  • ARAZI, Simone S.
  • REBECCHI, Ivanise M. M.
  • OLIVEIRA, Raquel
  • BERNIK, Marcia M. S.
  • DOREA, Egidio Lima
  • BERTOLAMI, Marcelo C.
  • HIRATA, Rosario D. C.
Publication Date
Jan 01, 2008
Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP)
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Background: ABCA1 plays an important role in HDL metabolism. Single nucleotide polymorphisms (SNPs) in ABCA1 gene were associated with variation in plasina 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 PCRR_FLP 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. (C) 2007 Elsevier B.V. All rights reserved.

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