Association of the T+294C polymorphism in PPAR delta with low HDL cholesterol and coronary heart disease risk in women

• Published in: International journal of medical sciences 2006-06, Vol.3 (3), p.108-111
• Main Authors: Aberle, Jens, Hopfer, Inga, Beil, Frank Ulrich, Seedorf, Udo
• Format: Article
• Language: English
• Subjects: Research Paper
• ISSN: 1449-1907; 1449-1907
• DOI: 10.7150/ijms.3.108

The +T294C polymorphism in PPARdelta represents a functional SNP affecting transcriptional activity of the PPARdelta gene. To address whether this polymorphism is associated with the risk for coronary heart disease and/or plasma lipid levels in women, we studied a group of 967 female patients with hyperlipidaemia in the presence (n=453) or absence (n=514) of coronary heart disease. 967 female patients with or without coronary heart disease were genotyped using mutagenically separated polymerase chain reaction (MS-PCR). Statistical analysis was performed according to genotype with parameters of lipid metabolism as dependant variables. A highly significant association between the rare C allele and lower plasma HDL concentrations was found in female subjects. The effect remained significant after correcting for multiparametric testing according to Bonferoni and was seen only in subjects with a BMI below the median. Moreover, a significant association of the C-allele with coronary heart disease and BMI was obtained. Regarding the entire group, trends towards higher VLDL and LDL levels were observed. Our data show for the first time that the PPARdelta +T294C polymorphism is associated with lipid levels and coronary heart disease in women. However, the molecular mechanism of action remains to be elucidated.