The −202 A Allele of Insulin-Like Growth Factor Binding Protein-3 (IGFBP3) Promoter Polymorphism Is Associated with Higher IGFBP-3 Serum Levels and Better Growth Response to Growth Hormone Treatment in Patients with Severe Growth Hormone Deficiency

Abstract

The -202 A allele of IGFBP3 promoter region is associated with increased IGFBP-3 levels and GV during rhGH treatment in prepubertal GHD children.

Analysis of IGF(CA)19 and IGFBP3-202A/C gene polymorphisms in patients with acromegaly: association with clinical presentation and response to treatments

“…Differences in the number of CA repeats have been associated with serum IGF1 levels, although controversial results have been communicated (3,5,6,7,8). In addition, the number of CA repeats has been associated with various clinical conditions or risk situations, such as age-related IGF1 decline (7), final adult height (4,5,9,10), risk of developing diabetes mellitus and myocardial infarction (5,11), survival after a myocardial infarction in diabetic patients (12), efficacy of recombinant human GH (rhGH) treatment in GH-deficient children, and Turner's syndrome (13,14,15) and cancer susceptibility (16).…”

“…The promoter activity is significantly higher in A allele carriers; in other words, IGFBP3 circulating levels have been reported to be correlated with the number of A alleles at this site, being higher in AA, and decreasing in a stepwise manner in AC and CC (17). Data regarding the distribution of this polymorphism in the general population and in different clinical settings are heterogeneous and somehow confusing (14,18,19,20).…”

Prostate Cancer Risk in Relation to a Single Nucleotide Polymorphism in the Insulin-like Growth Factor-binding Protein-3 (IGFBP3) Gene: a Meta-analysis

“…IGFBP3 A-202C polymorphisms, an A-C transversion which is located 202 bp upstream of the transcription start site of IGFBP3, has been confirmed to be associated with basal promoter activity both in vitro and in vivo (Rohrbacher et al, 2005;Wagner et al, 2005), The [A] possessing stronger promoter activity yields higher IGFBP3 gene expression, while the [C] allele or A-202C leads to be a lower one (Deal et al, 2001;D'Aloisio et al, 2003;Costalonga et al, 2009).…”

Optimizing growth hormone threapy in chilhood growth hormone defiency

“…Örneğin, BH reseptorü ekzon 3 delesyon polimorfizmi (32,33) veya IGFBP-3 promotor geni -202 A polimorfizminin (34) özellikle ağır BHE vakalarında BH tedavi yanıtını artırabileceği öne sürülmektedir. Bu konunun ayrıntıları bu derlemenin kapsamı dışın-da olup, bu konuda çalışmalar devam etmektedir (35) .…”