ESPE Abstracts (2015) 84 P-3-925

GH & IGF

Influence of the -202 A/C IGFBP3 Promoter Polymorphism on Individual Variation in Body Height in Korean Girls

Seung Yang, Young Suk Shim, Min Jae Kang, Yeon Joung Oh & Il Tae Hwang

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Hallym University College of Medicine, Seoul, Republic of Korea


Background: The most common single nucleotide polymorphism in the IGFBP3 promoter region occurs at position -202. This polymorphic variation occurs frequently and may influence GH responsiveness and somatic growth.

Objective and hypotheses: This study aimed to assess the effects of IGFBP3 promoter polymorphism on growth in children.

Method: Restriction fragment length polymorphism (RFLP)-based genotyping of the -202 single nucleotide polymorphism was performed in 146 Korean girls aged between 15 and 16 years, who were selected randomly from the Seoul School Health Promotion Center. The participants were divided into three groups (tall, medium, and short) according to the height percentile established from normal reference values for Korean children. The serum levels of IGF1 and IGFBP3 were then compared according to genotype.

Results: The genotype distribution in the participants was 79 AA (54.1%), 60 AC (41.1%), and 7 CC (4.8%). The C allele frequency at the -202 IGFBP3 position was 25.4% in this group. The mean serum IGFBP-3 concentration in girls with the AA genotype was higher than that in girls with the AC genotype in the medium (P=0.047) and short (P=0.035) groups respectively. There was no difference in the IGF1 to IGFBP3 molar ratio between the AA and AC genotype groups (P=0.161).

Conclusion: The -202 polymorphism in the IGFBP3 promoter region is assumed to affect the serum concentration of IGFBP3 in children as well as in adults. However, it is unclear whether this affects physical development according to the concentration of IGFBP3.

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