GH deficiency status combined with GH receptor polymorphism affects response to GH in children

European Journal of Endocrinology
Armand ValsesiaPREDICT Investigator group

Abstract

Meta-analysis has shown a modest improvement in first-year growth response to recombinant human GH (r-hGH) for carriers of the exon 3-deleted GH receptor (GHRd3) polymorphism but with significant interstudy variability. The associations between GHRd3 and growth response to r-hGH over 3 years in relation to severity of GH deficiency (GHD) were investigated in patients from 14 countries. Treatment-naïve pre-pubertal children with GHD were enrolled from the PREDICT studies (NCT00256126 and NCT00699855), categorized by peak GH level (peak GH) during provocation test: ≤4 μg/l (severe GHD; n=45) and >4 to <10 μg/l mild GHD; n=49) and genotyped for the GHRd3 polymorphism (full length (fl/fl, fl/d3, d3/d3). Gene expression (GE) profiles were characterized at baseline. Changes in growth (height (cm) and SDS) over 3 years were measured. There was a dichotomous influence of GHRd3 polymorphism on response to r-hGH, dependent on peak GH level. GH peak level (higher vs lower) and GHRd3 (fl/fl vs d3 carriers) combined status was associated with height change over 3 years (P<0.05). GHRd3 carriers with lower peak GH had lower growth than subjects with fl/fl (median difference after 3 years -3.3 cm; -0.3 SDS). Conversely, GHRd3 carriers with hig...Continue Reading

References

Jul 21, 2004·Clinical Chemistry and Laboratory Medicine : CCLM·Martin W ElmlingerMichael B Ranke
Nov 9, 2006·The Journal of Clinical Endocrinology and Metabolism·Annemieke RoosBruce H R Wolffenbuttel
Nov 15, 2007·The Journal of Clinical Endocrinology and Metabolism·Bert BakkerRon G Rosenfeld
Nov 28, 2008·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Frederico Guimarães MarchisottiIvo Jorge Prado Arnhold
Dec 1, 2010·Thyroid : Official Journal of the American Thyroid Association·Nicole S NaderSeema Kumar
Apr 13, 2012·American Journal of Epidemiology·Andrew G RenehanPeter E Clayton
Nov 20, 2012·The Journal of Clinical Endocrinology and Metabolism·JunXiang WanPinchas Cohen
Jun 14, 2013·European Journal of Endocrinology·P ClaytonC Olivier
Sep 4, 2013·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·María Gabriela BalleriniMaría Gabriela Ropelato
Dec 18, 2013·Bioinformatics·Andreas KrämerStuart Tugendreich

❮ Previous
Next ❯

Methods Mentioned

BETA
SGA
genotyping
PCR

Clinical Trials Mentioned

NCT00256126
NCT00699855

Software Mentioned

Molecular Activity Prediction ( MAP )
Qlucore Omics Explorer
Ingenuity
Ingenuity Pathways Analysis ( IPA
CNA
IPA
PREDICT
Partek Genomics Suite
Qlucore

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.