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Structural analysis and evaluation of the 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) gene in human essential hypertension
- Source :
- Journal of Hypertension. 16:1627-1633
- Publication Year :
- 1998
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 1998.
-
Abstract
- AIM: Mutations of the 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) gene cause the syndrome of apparent mineralocorticoid excess, a rare autosomal recessive form of hypertension. We therefore investigated the question of whether variants of the 11beta-HSD2 gene can contribute to genetic susceptibility to essential hypertension. SUBJECTS AND METHODS: We performed a linkage study in 162 French hypertensive sibships using the affected sib-pair method on 347 sibling pairs and a polymorphic microsatellite marker that we identified in a 30 kb cosmid clone containing the 11beta-HSD2 gene. The coding sequence, introns 2-4 and 350 bp of the 5'-flanking region of the 11beta-HSD2 gene were screened for polymorphisms by polymerase chain reaction/single-strand conformation polymorphism, and a single polymorphism, Glu178/Glu (G534A), was identified in exon 3, which did not change the encoded amino acid sequence. A case-control study was conducted on 370 hypertensive subjects with a positive family history of hypertension and 783 French subjects with hypertension with or without a family history of hypertension, compared with 313 normotensive control subjects, all of whom were analyzed for the newly identified bi-allelic polymorphism. RESULTS: Statistical analyses using the affected sib-pair method did not show significant linkage between the 11beta-HSD2 microsatellite marker and hypertension. Furthermore, no positive association with hypertension was found with the Glu178/Glu (G534A) polymorphism. CONCLUSION: Our data do not suggest that variants of the 11beta-HSD2 gene contribute substantially to essential hypertension in Caucasians.
- Subjects :
- medicine.medical_specialty
Genotype
Physiology
Molecular Sequence Data
Biology
Essential hypertension
Exon
Gene Frequency
Polymorphism (computer science)
Internal medicine
Internal Medicine
medicine
Humans
Polymorphic Microsatellite Marker
Genetic Predisposition to Disease
Allele
Gene
Alleles
Family Health
Genetics
Polymorphism, Genetic
Base Sequence
Hydroxysteroid Dehydrogenases
Genetic Variation
medicine.disease
Endocrinology
Genes
Case-Control Studies
Data Interpretation, Statistical
Hypertension
Microsatellite
11-beta-Hydroxysteroid Dehydrogenases
Cardiology and Cardiovascular Medicine
Microsatellite Repeats
Subjects
Details
- ISSN :
- 02636352
- Volume :
- 16
- Database :
- OpenAIRE
- Journal :
- Journal of Hypertension
- Accession number :
- edsair.doi.dedup.....d7f32b8f5d891ae35ab7afc767d09c04