title: 11β-hydroxysteroid dehydrogenase type 2 polymorphisms and activity in a Chilean essential hypertensive and normotensive cohort.
abstract: BACKGROUND
  11β-hydroxysteroid dehydrogenase type 2 enzyme (11β-HSD2) inactivates cortisol (F) to cortisone (E); its impairment is associated with hypertension. We reported that 15.7% of the Chilean essential hypertensives possessed a high F/E ratio suggesting a partial deficit in 11β-HSD2 activity. It has been reported that the G534A(Glu178/Glu) polymorphism in the HSD11B2 gene is associated with hypertension. Investigate the frequency of the G534A polymorphism and its correlation with the glucocorticoid profile in Chilean essential hypertensive and normotensive subjects.
  
  
  METHODS
  Essential hypertensive outpatients (n = 232) and normotensive subjects (n = 74) were recruited. A change in the AluI restriction enzyme digest pattern, caused by the presence of the G534A polymorphism, was utilized to screen DNA isolated from leukocytes within the cohort before confirmation by sequencing. Plasma renin activity (PRA), serum aldosterone, F, and E were measured by radioimmunoassay. Urinary tetrahydrocortisol (THF), 5α-tetrahydrocortisol (5α-THF), and tetrahydrocortisone (THE) were measured by gas chromatography-mass spectrometry.
  
  
  RESULTS
  G534A polymorphism frequency was similar between hypertensive patients (19 of 232; 8.2%) and normotensive subjects (7 of 74; 9.5%). When categorized by presence or absence of the G534A polymorphism, no significant differences in the serum F/E ratio or other measured biochemical variables were detected. Despite a previous report that the G534A polymorphism is associated with a neighboring C468A (Thr156/Thr) polymorphism, analysis within our cohort showed that only one patient in each group presented with this double polymorphism.
  
  
  CONCLUSIONS
  We report the frequency of the G534A polymorphism in the Spanish-Amerindian population. No correlation was detected between this polymorphism and the presence of hypertension and biochemical parameters in this Chilean cohort.
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors.forename: Carmen
authors.initials: C
authors.lastname: Campino
authors.forename: Hector
authors.initials: H
authors.lastname: Quinteros
authors.forename: Gareth I
authors.initials: GI
authors.lastname: Owen
authors.forename: Cristian A
authors.initials: CA
authors.lastname: Carvajal
authors.forename: Mauricio
authors.initials: M
authors.lastname: Morales
authors.forename: Oliviero
authors.initials: O
authors.lastname: Olivieri
authors.forename: Giancesare
authors.initials: G
authors.lastname: Guidi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Faccini
authors.forename: Francesco
authors.initials: F
authors.lastname: Pasini
authors.forename: Rene
authors.initials: R
authors.lastname: Baudrand
authors.forename: Oslando
authors.initials: O
authors.lastname: Padilla
authors.forename: Carolina
authors.initials: C
authors.lastname: Valdivia
authors.forename: Juan
authors.initials: J
authors.lastname: Thichauer
authors.forename: Carlos F
authors.initials: CF
authors.lastname: Lagos
authors.forename: Alexis M
authors.initials: AM
authors.lastname: Kalergis
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Fardella
mesh_terms: D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2 / Q000235:genetics*; D000450:Aldosterone / Q000097:blood; D016022:Case-Control Studies; D002677:Chile; D015331:Cohort Studies; D003348:Cortisone / Q000097:blood; D005260:Female; D005838:Genotype; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006973:Hypertension / Q000097:blood / Q000208:ethnology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D015995:Prevalence; D012083:Renin / Q000097:blood
chemical_list: D000450:Aldosterone; D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2; D012083:Renin; D003348:Cortisone; D006854:Hydrocortisone