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

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

TURKISH ARCHIVES OF PEDIATRICS, cilt.57, sa.2, ss.160-167, 2022 (ESCI)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 57 Sayı: 2
• Basım Tarihi: 2022
• Doi Numarası: 10.5152/turkarchpediatr.2022.21129
• Dergi Adı: TURKISH ARCHIVES OF PEDIATRICS
• Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
• Sayfa Sayıları: ss.160-167
• Anahtar Kelimeler: 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
• İstanbul Üniversitesi Adresli: Hayır

Özet

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.