The association of +1150A polymorphism with low GH level in isolated growth hormone deficiency (IGHD) patients

Abstract Background and objectives The circulating level of growth hormone (GH) is necessary for normal development of skeletal and soft tissues. The growth hormone-1 (GH1) gene is responsible for GH production, any alteration in this gene causes growth hormone deficiency (GHD). We aimed to study the GH1 gene variants in a sample of Egyptian patients with isolated growth hormone deficiency (IGHD) and isolated short stature (ISS) and their possibility to be used as biomarker for GHD. Methods Forty-two short stature patients were selected and divided into two groups according to GH level, 33 patients with IGHD and 9 with ISS. Exon 4 and its flanking intronic region of GH1 were screened by Sanger sequencing. In silico analysis was used to determine the function of the detected variant. Results +1150A (rs2665802) polymorphism was detected in the studied fragment. +1150A Genotype was associated with short stature and low growth hormone levels in the two studied groups. Conclusion To our knowledge this is the first molecular study on the IGHD and ISS in Egyptian patients. Our study sheds light on +1150A genotype may be a biomarker for IGHD and short stature.