The d3/fl-GH receptor gene polymorphism does not influence quality of life and body composition in GH-deficient adults receiving GH replacement therapy

被引：18
作者：
Adetunji, O. R. [1 ]
MacFarlane, I. A. [1 ]
Javadpour, M. [2 ]
Alfirevic, A. [3 ]
Pirmohamed, M. [3 ]
Blair, J. C. [4 ]
机构：
[1] Aintree Univ Hosp NHS Fdn Trust, Univ Dept Diabet & Endocrinol, Liverpool L9 7AL, Merseyside, England
[2] Walton Ctr Neurol & Neurosurg, Liverpool L9 7LJ, Merseyside, England
[3] Univ Liverpool, Dept Pharmacol & Therapeut, Liverpool L69 3BX, Merseyside, England
[4] Royal Liverpool Childrens NHS Trust, Liverpool L12 2AP, Merseyside, England
来源：
EUROPEAN JOURNAL OF ENDOCRINOLOGY | 2009年 / 161卷 / 04期
关键词：
GROWTH-HORMONE DEFICIENCY; HYPOTHALAMIC-PITUITARY DISEASE; GESTATIONAL-AGE CHILDREN; INCREASED RESPONSIVENESS; EXON-3; RETENTION; TERM; GENOTYPE; GLUCAGON; DELETION; ISOFORM;
D O I：
10.1530/EJE-09-0405
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Context: The growth response to recombinant human growth hormone (rhGH) in GH deficient (GHD) patients may be influenced by polymorphisms in the growth hormone receptor (GHR) gene. Objectives: To investigate adults with GHD who have been treated with rhGH for more than 1 year to determine the relationship between genomic deletion of exon 3 in the GHR gene and quality Of life (QoL), body composition (BC) and serum IGR1 levels, and to compare these variables to a healthy adult control population. Design: Cross-sectional Study. Methods: A total of 100 healthy adult controls and 131 patients were studied. Deletion of exon 3 in the GHR gene was determined in DNA that was isolated from peripheral blood. QoL was determined using the adult GHD assessment scale and three other validated QoL instruments. Results: In the control Population. the frequency of the genotypes was 53% fl/fl, 40%, d3/fl and 7%, d3/d3. and in the patient population, 55, 39 and 6% respectively. There was no significant difference in QoL scores and BC in control Subjects with the fl/fl genotype compared with those with the d3/d3 or fl/d3 genotype. There was no difference in the rhGH dose required to optimize serum IGfl. QoL or BC in patients with the fl/fl genotype compared with those with the d3/d3 or d3/fl genotype. Conclusion: Deletion of exon 3 in the GHR gene does not influence adult height, QoL or BC of the normal adult population nor does it influence rhGH close. QoL. and BC in GHD adults treated with rhGH for more than 1 year.
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页码：541 / 546
页数：6
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