Could estrogen impact a new pertinent gene for AIS

Adolescent Idiopathic Scoliosis (AIS) is a complex rotational spinal deformity that occurs during the pubertal growth spurt. Recently, through a stepwise association study a new susceptibility locus on chromosome 6q24.1 was reported in Japanese population. The most significantly associated SNP, rs6570507, was in GPR126. This gene is coding for a protein of the adhesion subfamily of G-protein coupled receptors. We identified variants in another orphan members of the adhesion subfamily of G-protein coupled receptors which that is characterized by a long serine/threonine-rich N-terminus possibly regulated by hormones such as estrogens and consequently involved in the progression of AIS during the pubertal growth. The aim of this study was to investigate the regulation of this gene (GPRCh3) by 17-beta-estradiol.