CEDIE 05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Polymorphims in GHR and IGHBP3 genes: Effect on IGFBP-3 levels and height in normal and short stature children
Autor/es:
SCAGLIA P; DOMENE H; GUTIERREZ M; MARTINEZ A; ROPELATO G; PIPMAN V; BENGOLEA S; KESELMAN A; BEDECARRAS P; BALLERINI G; KARABATAS L; ARCOS-BURGOS M; HEINRICH J; JASPER H
Lugar:
Viña del Mar, Chile
Reunión:
Congreso; XVIII Reunión Anual de la Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP; 2006
Institución organizadora:
Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP)
Resumen:
IGF-I and IGFBP-3 levels vary considerably in N children. Part of this variability has been related to polymorphism variants in IGF1 and IGFBP3 genes. The aim of this study was to determine the effect of IGFBP3 and GHR genes polymorphisms on IGFBP-3 and IGF-I levels and height in N and ISS children. We enrolled 105 N, aged 5.1 to 16.6 y, height -1.96 to 2.41 SDS, and 43 children with ISS, aged 2.4 to 17.0 y, height <-1.96 SDS with normal GH response after provocative tests. Height, IGF-I (RIA) and IGFBP-3 (IRMA) levels were expressed in SDS. We studied two single nucleotide polymorphisms (SNPs) in the promoter region of IGFBP3 gene by RFLP (-202 C/A and -185 C/T) and a GHR gene polymorphism by multiplex PCR (exon 3 deletion, D; full length, F). One-way ANOVA (A) followed by linear trend (LT) and unpaired t-test were used for statistical analysis, considering three modes of inheritance of effect: codominant, dominant, and recessive.IGFBP-3 levels were significantly lower for -202 CC genotype and GHR D allele: [AA+CA 0.21±0.12 (mean±sem) vs. CC -0.24±0.15, p=0.021; F/F 0.22±0.13 vs. FD+DD -0.23±0.13, p=0.024] and height was lower for the GHR D allele (FF 0.49±0.13 vs. FD+DD 0.05±0.16, p=0.030). Thus, CC and FD or DD were defined as unfavorable genotypes. There was an additive effect of the number of unfavorable genotypes on IGFBP-3 levels (A p=0.004, LT p=0.001) but not for IGF-I (A p=0.291) or height (A p=0.064). No effects were found in ISS children. In conclusion, IGFBP-3 levels and height in N children seem to be partially related to genetic polymorphisms in IGFBP3 and GHR genes.
