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Title: The prevalence of polymorphism of exon 3 expression of the growth hormone receptor gene in the general population and its influence on quality of life, body composition and response to growth hormone replacement in growth hormone deficient adults
Author: Adetunji, Omolara Rashidat
Awarding Body: University of Liverpool
Current Institution: University of Liverpool
Date of Award: 2013
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Growth hormone (GH) deficiency developing in adult life results in impaired quality of life (QoL) and altered body composition (Be). As in children, it is now standard practice to treat adult growth hormone deficiency (GHD) with recombinant human GH (rhGH). Response to treatment with rhGH remains variable in patients with GHD. In health, the growth hormone receptor (GHR) is the principal regulator of growth hormone sensitivity and is an obvious candidate gene to influence the response to rhGH. A common polymorphism occurs in the GHR gene resulting in two isoforms of the GHR in humans generated either by expression or non-expression of exon 3 of the GHR gene. This results in 3 genotypes: full-length only with exon 3 expressed on both alleles i.e. homozygous GHN[; short only with non-expression of exon 3 on both alleles i.e. homozygous GHRd3 and a combination of the 2 isoforms i.e. heterozygous GHR-d3/fl. Population studies have documented that this polymorphism occurs in high frequency with the GHR-d3/fl genotype in 25-40% of subjects and the GHR-d3/d3 genotype in 7-15%(1-3).
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available