The Relationship between Insulin-like Growth Factor Binding Protein-3 Promoter Polymorphism and Growth / 대한소아내분비학회지

ABSTRACT

PURPOSE: The variability in insulin-like growth factor binding protein-3 (IGFBP-3) levels is related to polymorphic variants of the promoter region of the gene. The most common single nucleotide polymorphism of IGFBP promoter region is -202 locus. In vitro, significantly higher promoter activity of the A allele at the -202 locus compared with the C allele, consistent with the relationship observed between genotype and circulating IGFBP-3 was documented. The polymorphic variation occurs frequently and may influence GH responsiveness, somatic growth, but the effects of IGFBP-3 promoter polymorphism on growth in children are unknown. METHODS: RFLP genotyping of the -202 single nucleotide polymorphism was performed in 33 Korean children who visited our clinic for evaluation of their growth. The serum levels of IGF-I and IGFBP-3 were compared according to genotyping. RESULTS: Height SDS of subjects was -1.48+/-1.10. 11 of 33 children (33%) were heterozygous AC and the others are homozygous AA in genetic distribution, but no homozygous CC was detected. C allele frequency was 16.7%. There were no significant differences in height, body mass index, serum IGF-I and IGFBP-3 levels between AC and AA groups. CONCLUSION: The effects of IGFBP-3 promoter polymorphism on growth at the -202 locus deserve investigation because there is no CC and the children were relatively short in this study.