title: A common 844INS68 insertion variant in the cystathionine beta-synthase gene.
abstract: Mildly elevated plasma homocysteine has been shown to be associated with an elevated risk for cardiovascular disease. In this study, we analyzed the frequency of a common 844ins68 insertion variant in the cystathionine beta-synthase gene (CBS) in patients with arterial occlusive disease and in controls and assessed the association between the insertion variant and plasma homocysteine concentrations. The insertion variant was equally distributed between both study groups. Furthermore, the presence of this insertion variant, either in the heterozygous or the homozygous state, is not associated with hyperhomocysteinemia. We therefore conclude that this common 844ins68 variant is a neutral insertion variant.
authors.affiliation: Department of Pediatrics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands.
authors.forename: L A
authors.initials: LA
authors.lastname: Kluijtmans
authors.forename: G H
authors.initials: GH
authors.lastname: Boers
authors.forename: F J
authors.initials: FJ
authors.lastname: Trijbels
authors.forename: H M
authors.initials: HM
authors.lastname: van Lith-Zanders
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: H J
authors.initials: HJ
authors.lastname: Blom
mesh_terms: D001157:Arterial Occlusive Diseases / Q000235:genetics*; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D006710:Homocysteine / Q000097:blood; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics
chemical_list: D006710:Homocysteine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase