Background: Recombinant human growth hormone (rhGH) has been widely used in clinical treatment and
technology has achieved a great development in different long-acting formulations. Genetic polymorphisms may play
a role in the varies of individual responses in treatment process. This article gives an overview of the genetic polymorphisms
research of growth hormone in recent years.
Methods: We conducted a scoping literature search of PubMed for all English-language publications to identify
studies on recombinant human growth hormone and genetic polymorphism from 2000 to 2016. Included studies were
all peer-reviewed primary journal articles. Two authors independently screened titles/abstracts, downloading full-text
publications meeting inclusion criteria.
Results: In all, 96 studies were included and analyzed. We found that besides some well known factors ,such as
races, age, gender, weight, several kinds of gene polymorphism reported ever can also affect the growth hormone
response in GHD or non-GHD patients, including GHR-Exon 3, IGF(CA)19, IGFBP-3, APOB, CETP, SOCS2,
VDR, LEPR and STAT5B.
Conclusion: Serum IGF-1 is a good parameter of GH treatment response. But it is influenced by various factors,
including races, age, gender, weight, initial IGF-1 level, injection concentration and frequency. Gene polymorphism
research has been a research hopspot in recent years, may helping understand the pathogeny and pharmacogenomics
of these response varieties during GH treatment.