Genetics
CETP promoter and intron 1 SNPs form haplotypes linked to HDL and LDL cholesterol, with sex-dependent strength (Hum Hered 2002)
Original title: Single nucleotide polymorphism haplotypes in the cholesteryl-ester transfer protein (CETP) gene and lipid phenotypes
Analysis of 201 founders from families across Germany examined six common single nucleotide polymorphisms spanning the CETP gene, five in tight pairwise linkage disequilibrium within the promoter and intron 1 plus the well-known 1405V polymorphism in exon 14. Four haplotypes accounted for 86% of the sample. Haplotype associations with HDL cholesterol, LDL cholesterol, and the LDL/HDL ratio were more robust than associations with any individual SNP. These haplotype associations held in men but not in women, pointing to an interaction between sex and genetic variation across the CETP gene in determining lipid phenotypes.
Original abstract
We studied the association between high (HDL) and low-density (LDL) cholesterol concentrations and family-derived haplotypes based on six common SNPs in the cholesteryl-ester transfer protein (CETP) gene. We based our analysis on 201 founders from families recruited throughout Germany. The analysis revealed one subhaplotype block with complete, pairwise, linkage disequilibrium between 5 SNPs located in the promoter and intron 1. The sixth SNP was the well known 1405V polymorphism in exon 14, close to the 3' end of the gene. Four haplotypes accounted for 86% of the entire sample. We found that haplotype associations with HDL, LDL, and the LDL/HDL ratio were more robust than associations with individual SNPs. Moreover, the associations were robust for men, but not for women. Our data suggest an interaction between gender and genetic variation within the CETP gene.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.