title: Citosine-Adenine-Repeat Microsatellite of 11β-hydroxysteroid dehydrogenase 2 Gene in Hypertensive Children.
abstract: BACKGROUND
  The impairment of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11βHSD2) results in an inefficient conversion of cortisol to cortisone, which triggers hypertension. Cytosine-adenine repeat (CA repeat) microsatellite has been associated with low HSD11B2 gene expression.
  
  
  OBJECTIVE
  To determine whether the CA-repeat length in intron 1 affect the serum cortisol to cortisone (F/E) ratio and/or blood pressure (BP) levels in pediatric subjects.
  
  
  METHODS
  Eighty-one hypertensive (HT) and 117 normotensive (NT) subjects participated in this study. We measured BP levels, as well as the F and E and F/E ratio in morning sera and 12-hour urine samples. The length of CA repeats was determined through fragment analysis. We compared the allele distribution between the HT and NT groups, and the patients were dichotomized into groups with short alleles (S) (<21 CA repeats) or long alleles (L), and also in groups according genotype (allele combination: S/S and S/L + L/L).
  
  
  RESULTS
  We found no differences in the distribution of CA-repeat allelic length between the NT and HT groups (P = 0.7807), and there was no correlation between the CA-repeat allelic length and BP (P = 0.1151) levels or the serum F/E ratio (P = 0.6778). However, the serum F/E ratio was higher in the HT group than in the NT group (P = 0.0251). The serum F/E ratio was associated with systolic BP index independent of body mass index only in HT group.
  
  
  CONCLUSIONS
  The CA-repeat length did not influence BP levels or serum F/E ratios in pediatric subjects. However, the serum F/E ratio was associated with BP, suggesting a role of 11βHSD2 in mineralocorticoid hypertension.
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Carolina
authors.initials: C
authors.lastname: Valdivia
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Millennium Institute on Immunology and Immunotherapy, Santiago, Chile;
authors.forename: Cristian A
authors.initials: CA
authors.lastname: Carvajal
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Millennium Institute on Immunology and Immunotherapy, Santiago, Chile;
authors.forename: Carmen
authors.initials: C
authors.lastname: Campino
authors.affiliation: Departamento de Laboratorios Clínicos, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Fidel
authors.initials: F
authors.lastname: Allende
authors.affiliation: Unidad de Endocrinología, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Alejandro
authors.initials: A
authors.lastname: Martinez-Aguayo
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Rene
authors.initials: R
authors.lastname: Baudrand
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Millennium Institute on Immunology and Immunotherapy, Santiago, Chile;
authors.forename: Andrea
authors.initials: A
authors.lastname: Vecchiola
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Millennium Institute on Immunology and Immunotherapy, Santiago, Chile; Facultad de Ciencia, Universidad San Sebastián, Santiago, Chile;
authors.forename: Carlos F
authors.initials: CF
authors.lastname: Lagos
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Alejandra
authors.initials: A
authors.lastname: Tapia-Castillo
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Millennium Institute on Immunology and Immunotherapy, Santiago, Chile;
authors.forename: Cristobal A
authors.initials: CA
authors.lastname: Fuentes
authors.affiliation: Unidad de Endocrinología, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Marlene
authors.initials: M
authors.lastname: Aglony
authors.affiliation: Departamento de Laboratorios Clínicos, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Sandra
authors.initials: S
authors.lastname: Solari
authors.affiliation: Millennium Institute on Immunology and Immunotherapy, Santiago, Chile; Departamento de Genética Molecular y Microbiología, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile;
authors.forename: Alexis M
authors.initials: AM
authors.lastname: Kalergis
authors.affiliation: Unidad de Endocrinología, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Hernan
authors.initials: H
authors.lastname: García
authors.affiliation: Departamento de Fisiología, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile;
authors.forename: Gareth I
authors.initials: GI
authors.lastname: Owen
authors.affiliation: Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Millennium Institute on Immunology and Immunotherapy, Santiago, Chile; cfardella@med.puc.cl.
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Fardella
mesh_terms: D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2 / Q000096:biosynthesis / Q000235:genetics*; D000293:Adolescent; D000483:Alleles; D001794:Blood Pressure / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D005786:Gene Expression Regulation; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D012313:RNA / Q000235:genetics*
chemical_list: D012313:RNA; D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2; C468387:HSD11B2 protein, human
keywords: 11βHSD2; CA repeat; HSD11B2; arterial hypertension; blood pressure; hypertension; microsatellite region; short tandem repeat (STR)