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Ann Pediatr Endocrinol Metab > Volume 11(1); 2006 > Article
The Relationship between Insulin-like Growth Factor Binding Protein-3 Promoter Polymorphism and Growth.
Woo Jin Choi, Seung Yang, Jee Hye Im, Young Ik Lee, Jeh Hoon Shin
1Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.
2Liver cell signal transduction Lab., Korea Research Institute of Bioscience and Biotechnology, Daejon, Korea.
3Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea. hjshin@hanyang.ac.kr
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.
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.
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.
Keywords: IGFBP-3;Promoter;Polymorphism;Growth


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