title: Ethnic differences in the association between lipid metabolism genes and lipid levels in black and white South African women.
abstract: OBJECTIVE
  Dyslipidaemia can lead to the development of atherosclerosis and cardiovascular disease (CVD), however its prevalence has been shown to differ between ethnic groups in South Africa (SA). Therefore the aim of this study was to investigate ethnic differences in the association between serum lipid levels and polymorphisms within genes involved in lipid metabolism in black and white SA women.
  
  
  METHODS
  In a convenient sample of 234 white and 209 black SA women of Xhosa ancestry, body composition (DXA) and fasting serum lipids were measured. Participants were genotyped for the cholesteryl ester transfer protein (CETP, rs708272, B1/B2), lipoprotein lipase (LPL, rs328, S/X), hepatic lipase (LIPC, rs1800588, C/T) and proprotein convertase subtilisin/kexin type 9 (PCSK9, rs28362286, C/X) polymorphisms.
  
  
  RESULTS
  Compared to white women, black women had lower concentrations of serum total cholesterol (TC, P < 0.001), low density lipoprotein cholesterol (LDL-C, P < 0.001), high density lipoprotein cholesterol (HDL-C, P < 0.001) and triglycerides (TG, P < 0.001). There were significant differences in the genotype and allele frequency distributions between black and white women for the LPL S/X (P < 0.001), PCSK9 C679X (P = 0.002) and LIPC 514C/T (P < 0.001) polymorphisms. In black women only, there were genotype effects on serum lipid levels. Specifically, women with the LPL SX genotype had lower TC and LDL-C and higher HDL-C concentrations than those with the SS genotype and women with the CETP B2 allele had lower LDL-C concentrations than those with the B1B1 genotype.
  
  
  CONCLUSIONS
  Polymorphisms within the LPL and CETP genes were associated with a more protective lipid profile in black, but not white SA women. This supports the hypothesis that the more favorable lipid profile of black compared to white SA women is associated with polymorphisms in lipid metabolism genes, specifically the LPL and CETP genes.
authors: Non-Communicable Disease Research Unit, South African Medical Research Council, Cape Town, South Africa; Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, Cape Town, South Africa.
authors: Nicole
authors: N
authors: Ellman
authors: Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, Cape Town, South Africa.
authors: Dheshnie
authors: D
authors: Keswell
authors: Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, Cape Town, South Africa.
authors: Malcolm
authors: M
authors: Collins
authors: Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, Cape Town, South Africa.
authors: Mehreen
authors: M
authors: Tootla
authors: Non-Communicable Disease Research Unit, South African Medical Research Council, Cape Town, South Africa; Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, Cape Town, South Africa. Electronic address: Julia.Goedecke@mrc.ac.za.
authors: Julia H
authors: JH
authors: Goedecke
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D044383:Black People / Q000235:genetics*; D053480:Cholesterol Ester Transfer Proteins / Q000235:genetics*; D050171:Dyslipidemias / Q000097:blood / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D054624:Health Status Disparities; D006801:Humans; D050356:Lipid Metabolism / Q000235:genetics*; D008055:Lipids / Q000097:blood*; D008071:Lipoprotein Lipase / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012737:Sex Factors; D013019:South Africa / Q000453:epidemiology; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: D015415:Biomarkers; C506642:CETP protein, human; D053480:Cholesterol Ester Transfer Proteins; D008055:Lipids; C548261:LPL protein, human; D008071:Lipoprotein Lipase
keywords: CETP; LIPC; LPL; Lipid profile; PCSK9