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Thromb Haemost 2006; 95(04): 696-701
DOI: 10.1160/TH05-10-0699
Cardiovascular Biology and Cell Signalling
Schattauer GmbH

Genetic analysis of CAV1 gene in hypertension and metabolic syndrome

Antonio Grilo
1   Servicio de Medicina Interna, Hospital de Valme, Sevilla, Spain
,
Maria Luisa Fernandez
1   Servicio de Medicina Interna, Hospital de Valme, Sevilla, Spain
,
Manuel Beltrán
1   Servicio de Medicina Interna, Hospital de Valme, Sevilla, Spain
,
Reposo Ramirez-Lorca
2   Departmento de Genómica Estructural, Neocodex, Sevilla, Spain
,
María Angeles González
1   Servicio de Medicina Interna, Hospital de Valme, Sevilla, Spain
,
Jose Luis Royo
2   Departmento de Genómica Estructural, Neocodex, Sevilla, Spain
,
Reyes Gutierrez-Tous
3   Servicio de Hematología, Hospital de Valme, Sevilla, Spain
,
Francisco Jesús Morón
2   Departmento de Genómica Estructural, Neocodex, Sevilla, Spain
,
Carmen Couto
3   Servicio de Hematología, Hospital de Valme, Sevilla, Spain
,
Manuel Serrano-Rios
4   Departmento de Medicina Interna II, Hospital Clínico San Carlos, Madrid; Spain
,
Maria Eugenia Saez
2   Departmento de Genómica Estructural, Neocodex, Sevilla, Spain
,
Agustin Ruiz
2   Departmento de Genómica Estructural, Neocodex, Sevilla, Spain
,
Luis Miguel Real
2   Departmento de Genómica Estructural, Neocodex, Sevilla, Spain
› Author AffiliationsFinancial support: Neocodex have been partially funded by the Ministerio de Cienciay Tecnología of Spain (FIT-010000–2002–64, FIT 010000–2003–36, FIT-010000–2003–89, FIT-010000–2004–68, FIT-010000–2004–69).
Further Information

Publication History

Received 28 October 2005

Accepted after resubmission 17 February 2006

Publication Date:
30 November 2017 (online)

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Summary

Recently, we reported that the polymorphism 1132T>C (Gene-Bank: 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 ≤ 60 years old, with two polymorphisms of the CAV1 gene: the 22285 C>T and the 22375–22375 del AC (GeneBank 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.

Keywords

CAV1 - NOS3 - genetics - hypertension - metabolic syndrome
 

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