Detection rate of IGF-1 variants and their implication to protein binding: study of over 240,000 patients.

Ievgen MotorykinJianying MuBradley S MillerAllison LiNigel J ClarkeMichael J McPhaulZengru Wu

Published in: Clinical chemistry and laboratory medicine (2023)

In the IGF-1 test reports by LC-MS, the concentrations only account for half the total IGF-1 for patients with heterozygous IGF-1 variants. An IGF-1 variant may change the binding to its receptor and/or its binding proteins, affecting its activity and half-life in circulation. Variants located in or close to the C-domain may be pathogenic. Cross-species sequence comparison indicates that A38V and A70T may have some degree of pathogenicity.

Keyphrases

binding protein
pi k akt
growth hormone
copy number
ejection fraction
newly diagnosed
prognostic factors
gene expression
amino acid
early onset
emergency department
small molecule
transcription factor
dna methylation
biofilm formation
patient reported outcomes
pseudomonas aeruginosa
genetic diversity