title: Two novel single nucleotide polymorphisms in the promoter of the cellular retinoic acid binding protein II gene (CRABP-II).
abstract: The cellular retinoic acid binding protein-II (CRABP-II) is an intracellular protein involved in the transmission of the vitamin A-derived signal which regulates genes responsible for lipid metabolism and adipocyte differentiation. Cellular Retinoic Acid Binding Protein-II gene (CRABP-II) (GDB 134819) is located on chromosome 1q21-23 and this region has been linked with related disorders such as Familial Combined Hyperlipidemia (FCHL), type 2 Diabetes Mellitus, and Lipodystrophy. In this context we hypothesized that CRABP-II is an interesting protein and aimed to provide genetic markers for future studies. In order to do that, we screened the promoter and the entire coding regions for mutations in 53 patients diagnosed with FCHL and 89 normolipidemic controls. Two new single nucleotide polymorphisms (SNPs) were identified in the promoter region a C to A change at position -515 and a T to C substitution at position -394, the latter creating a binding site for SP1. The change -515C > A was identified in a FCHL patient whereas the -394T > C was found in 3 FCHL patients and 4 normolipidemic subjects. This report provides two new polymorphisms in CRABP-II, which can be used as genetic markers for future studies of association or linkage with diseases, particularly those associated with the metabolic syndrome.
authors.affiliation: Facultat de Medicina i Ciències de la Salut, Unitat de Recerca de Lípids i Arteriosclerosi, Universitat Rovira i Virgili, Sant Llorenç, 21, 43201 Reus, Spain.
authors.forename: Juliana
authors.initials: J
authors.lastname: Salazar
authors.forename: Raimon
authors.initials: R
authors.lastname: Ferré
authors.forename: Joan-Carles
authors.initials: JC
authors.lastname: Vallvé
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocoví
authors.forename: Manuel Castro
authors.initials: MC
authors.lastname: Cabezas
authors.forename: Lluís
authors.initials: L
authors.lastname: Masana
authors.forename: Josep
authors.initials: J
authors.lastname: Ribalta
mesh_terms: D006801:Humans; D009154:Mutation; D009426:Netherlands; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D013030:Spain
chemical_list: D018168:Receptors, Retinoic Acid; C082928:retinoic acid binding protein II, cellular