title: Genetic analysis of CAV1 gene in hypertension and metabolic syndrome.
abstract: Recently, we reported that the polymorphism 1132T>C (GenBank: AF519768.1) of the NOS3 gene was associated with susceptibility to metabolic syndrome (MS) in hypertensive patients. This suggests that other genes such as CAV1, whose product (CAV1) regulates eNOS activity, could also be related to this phenotype. In this work we investigated the following: i) whether CAV1 is a quantitative trait locus of clustering of atherothrombotic traits associated with MS; ii) whether CVA1 is associated with hypertension or MS in hypertensive patients; and iii) whether genetic interaction between NOS3 and CAV1 is involved in the susceptibility or protection to hypertension associated with MS. To carry out the study, we genotyped 285 randomly selected individuals and 175 hypertensive patients, all of them < or = 60 years old, with two polymorphisms of the CAV1 gene: the 22285 C>T and the 22375-22375 del AC (GenBank AF125348), and the 1132T>C polymorphism of the NOS3 gene. To perform sample genotyping, we used pyrosequencing and FRET techniques. The 22285 C-22375-22375 del (Cd) haplotype of CAV1 gene was associated with low levels of blood pressure in the general population. Moreover, it was a genetic protection factor against MS in hypertensive patients. In addition, we found no evidence of gene-gene interaction between NOS3 and CAV1 genes with regard to that phenotype.
authors.affiliation: Servicio de Medicina Interna, Hospital de Valme, Sevilla, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Grilo
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Fernandez
authors.forename: Manuel
authors.initials: M
authors.lastname: Beltrán
authors.forename: Reposo
authors.initials: R
authors.lastname: Ramirez-Lorca
authors.forename: María Angeles
authors.initials: MA
authors.lastname: González
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Royo
authors.forename: Reyes
authors.initials: R
authors.lastname: Gutierrez-Tous
authors.forename: Francisco Jesús
authors.initials: FJ
authors.lastname: Morón
authors.forename: Carmen
authors.initials: C
authors.lastname: Couto
authors.forename: Manuel
authors.initials: M
authors.lastname: Serrano-Rios
authors.forename: Maria Eugenia
authors.initials: ME
authors.lastname: Saez
authors.forename: Agustin
authors.initials: A
authors.lastname: Ruiz
authors.forename: Luis Miguel
authors.initials: LM
authors.lastname: Real
mesh_terms: D016022:Case-Control Studies; D051242:Caveolin 1 / Q000235:genetics*; D031541:Fluorescence Resonance Energy Transfer; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D024821:Metabolic Syndrome / Q000235:genetics*; D008957:Models, Genetic; D052250:Nitric Oxide Synthase Type III / Q000378:metabolism*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D017422:Sequence Analysis, DNA; D013927:Thrombosis / Q000235:genetics
chemical_list: C495540:CAV1 protein, human; D051242:Caveolin 1; D052250:Nitric Oxide Synthase Type III