Artículo
Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children
Ballerini, María Gabriela; Domene, Horacio Mario
; Scaglia, Paula Alejandra
; Martinez, Alicia Susana
; Keselman, Ana; Jasper, Hector Guillermo
; Ropelato, María Gabriela
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Fecha de publicación:
12/2013
Editorial:
Elsevier
Revista:
Growth Hormone
ISSN:
1096-6374
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Objective
To investigate the possible association of circulating components of GH-IGFs-IGFBPs system with the GHR-exon 3 genotype in normal and idiopathic short stature (ISS) children.
Design
Descriptive, cross-sectional study in normal and ISS children.
Subjects and methods
192 normal and 81 ISS children (age: 5–17 years) were included. Serum IGF-I, IGFBP3, ALS and GHBP levels were measured. GHR-exon 3 polymorphism (GHRd3) was analyzed by multiplex PCR assay. Normal and ISS children were divided according to GHR-exon 3 genotype: homozygous for the full-length GHR isoform (GHRfl) and carriers of one or two copies of the GHRd3 allele.
Results
GHRd3 genotype distribution (fl:fl/fl:d3/d3:d3,%) in normal (60:34:6) and ISS (64:32:4) was similar and reached Hardy–Weinberg equilibrium. ISS children had significantly reduced levels of GHBP and GH-dependent factors as compared to controls (p < 0.0001). Within the normal group, homozygous carriers of the GHRfl allele had significantly higher GHBP serum levels than those with one or two copies of the GHRd3 allele (Mean ± SEM; GHRfl: 3.2 ± 0.2 vs GHRd3: 2.7 ± 0.2 nmol/L, p = 0.04). No other significant association with GHR exon 3 polymorphism was found in either the normal or the ISS groups.
Conclusions
GHR exon 3 polymorphism is distributed similarly in normal and ISS children, however only normal homozygous children for GHRfl allele showed higher GHBP levels. The lack of association between GHBP and GHR polymorphism in ISS children might be related to the heterogeneity of this group, where potential defects in GH receptor action may result in partial GH insensitivity.
Palabras clave:
Gh-Igfs-Igfbps System
,
Ghr-Exon 3 Polymorphism
,
Idiopatic Short Stature
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Identificadores
Colecciones
Articulos(CEDIE)
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Citación
Ballerini, María Gabriela; Domene, Horacio Mario; Scaglia, Paula Alejandra; Martinez, Alicia Susana; Keselman, Ana; et al.; Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children; Elsevier; Growth Hormone; 23; 6; 12-2013; 229-236
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