Sex-specific effects of a microsatellite polymorphism on human growth hormone receptor gene expression

摘要: Abstract Growth hormone (GH) binds to its specific receptor (GHR) at the surface of target cells activating multiple signaling pathways implicated in growth and metabolism. Dysregulation GHRs leads pathophysiological states that most commonly affect stature. We previously showed association a polymorphic (n = 15–37) GT microsatellite human GHR gene promoter with short stature sex-specific manner. In present study we evaluated functional relevance this polymorphism regulating expression. Using luciferase reporter assays, found repeat had significant cis regulatory effect response HIF1α potential repressor role following C/EBPβ stimulation. digital PCR application measure allelic imbalance (AI), high prevalence AI (∼76%) locus lymphoblastoid cell lines (LCLs), significantly higher degree LCLs derived from males. Examination expression as well other members GH-IGF1 axis revealed associations GHR, IGF1 BCL2 genotype Our results suggest exerts both trans effects context, revealing new mechanism by which is regulated.