Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia
- 2 September 2005
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 68 (4) , 369-372
- https://doi.org/10.1111/j.1399-0004.2005.00510.x
Abstract
The great majority of patients with type III hyperlipidemia (type III HLP) are homozygous for the ε2 allele of the APOE gene. However, only about 10% of ε2 homozygotes develop type III HLP, and it has been proposed that additional genetic factors are required for the development of the condition. The frequency of two polymorphisms in the APOA5 gene, −1131T>C and S19W, has been determined in 72 hyperlipidemic patients with APOE2/2 genotype attending a lipid clinic. The frequency of both polymorphisms was significantly higher in APOE2/2 patients than in the normal population. Fifty-three percent of APOE2/2 patients were carriers of one of the polymorphisms compared to 19.7% of controls. Thus, genetic variation in the APOA5 gene is an important cofactor in the development of type III HLP.Keywords
This publication has 11 references indexed in Scilit:
- Hyperlipidemia in Patients with Apolipoprotein E 2/2 Phenotype: Apolipoprotein A5 S19W Mutation as a CofactorClinical Chemistry, 2004
- ApoAV Reduces Plasma Triglycerides by Inhibiting Very Low Density Lipoprotein-Triglyceride (VLDL-TG) Production and Stimulating Lipoprotein Lipase-mediated VLDL-TG HydrolysisJournal of Biological Chemistry, 2004
- Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11Genomics, 2004
- Linkage and Association Between Distinct Variants of the APOA1/C3/A4/A5 Gene Cluster and Familial Combined HyperlipidemiaArteriosclerosis, Thrombosis, and Vascular Biology, 2004
- The single nucleotide polymorphism ?1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemiaJournal of Molecular Medicine, 2003
- Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglyceridesHuman Molecular Genetics, 2002
- The apoAI-CIII-AIV gene clusterAtherosclerosis, 2001
- Severe Hyperlipidemia in Apolipoprotein E2 Homozygotes Due to a Combined Effect of Hyperinsulinemia and an Sst I PolymorphismArteriosclerosis, Thrombosis, and Vascular Biology, 1999
- Patients With ApoE3 Deficiency (E2/2, E3/2, and E4/2) Who Manifest With Hyperlipidemia Have Increased Frequency of an Asn 291→Ser Mutation in the Human LPL GeneArteriosclerosis, Thrombosis, and Vascular Biology, 1995
- Genetic transmission of isoapolipoprotein E phenotypes in a large kindred: Relationship to dysbetalipoproteinemia and hyperlipidemiaMetabolism, 1981