Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature

Gulec E. Y., ERCAN O., Adal S. E., BUYRU A. N., Yildiz M., DEVİREN A.

TURKISH ARCHIVES OF PEDIATRICS, vol.57, no.2, pp.160-167, 2022 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 2
  • Publication Date: 2022
  • Doi Number: 10.5152/turkarchpediatr.2022.21129
  • Journal Name: TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.160-167
  • Keywords: GH1IVS4+90A>T, GHRd3, growth hormone, growth hormone receptor, growth hormone therapy, polymorphism, rs2665802, short stature, GH RECEPTOR, INCREASED RESPONSIVENESS, EXON-3 RETENTION, TURNER SYNDROME, FINAL HEIGHT, GENE, THERAPY, PROMOTER, DELETION, DEFICIENCY
  • Istanbul University Affiliated: No

Abstract

Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy.