title: The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm.
abstract: Abdominal aortic aneurysm (AAA) is a relatively common disease of the elderly presenting as progressive dilatation of the abdominal aorta. The condition shows a pronounced tendency to cluster in families, indicating a genetic component in the disease aetiology. We have screened the cholesteryl ester transfer protein (CETP) gene, which has been proposed as a candidate gene in AAA, by means of SSCP, DNA sequencing and restriction analysis in a cohort of patients with AAA and a matching control group drawn from the Irish population. The analysis has demonstrated sequence variation at four sites in the CETP gene: an A-T transversion in exon 9 (producing a Lys309-Stop codon substitution), a G-A transition in exon 14 (producing a conservative Val421-Ile substitution), a C-T transition in intron 12 and a G-A transition in intron 15. None of the last three sites corresponded with sites of functional significance in the protein, suggesting that this reflects neutral polymorphism at the CETP locus. Furthermore, the frequencies of these four polymorphisms in the AAA patient and control groups were not significantly different. These data therefore suggest that CETP may be excluded as a candidate gene in abdominal aortic aneurysm.
authors.affiliation: Department of Biochemistry, The Royal College of Surgeons in Ireland, St. Stephen's Green, Dublin.
authors.forename: D
authors.initials: D
authors.lastname: Ramsbottom
authors.forename: A
authors.initials: A
authors.lastname: O'Neill
authors.forename: D M
authors.initials: DM
authors.lastname: Sexton
authors.forename: R A
authors.initials: RA
authors.lastname: Gafoor
authors.forename: D
authors.initials: D
authors.lastname: Bouchier-Hayes
authors.forename: D T
authors.initials: DT
authors.lastname: Croke
mesh_terms: D017544:Aortic Aneurysm, Abdominal / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D053480:Cholesterol Ester Transfer Proteins; D015331:Cohort Studies; D005091:Exons; D006023:Glycoproteins; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D006023:Glycoproteins