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Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2006-1695
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The Journal of Clinical Endocrinology & Metabolism Vol. 92, No. 2 725-728
Copyright © 2007 by The Endocrine Society


BRIEF REPORT

Relationship of the Human Growth Hormone Receptor Exon 3 Genotype with Final Adult Height and Bone Mineral Density

Gurvinder Kenth, Zhuo Shao, David E. C. Cole and Cynthia Gates Goodyer

Endocrine Research Laboratory (G.K., Z.S., C.G.G.), McGill University Health Centre-Montreal Children’s Hospital Research Institute, Montreal, Quebec, Canada H3Z 2Z3; Departments of Laboratory Medicine and Pathobiology and Pediatrics (D.E.C.C.), University of Toronto, Toronto, Ontario, Canada M5G 1L5; and Division of Experimental Medicine (G.K., C.G.G.), and Department of Pediatrics (C.G.G.), McGill University, Montreal, Quebec, Canada H3Z 2Z3

Address all correspondence and requests for reprints to: Dr. Cynthia Gates Goodyer, Endocrine Research Laboratory, Room 415/1, McGill University Health Centre-Montreal Children’s Hospital Research Institute, 4060 Ste Catherine Street West, Montreal, Quebec, Canada H3Z 2Z3. E-mail: cindy.goodyer{at}muhc.mcgill.ca.

Context: Three recent clinical studies have reported that two of the most common isoforms of the human GH (hGH) receptor (hGHR), exon 3 full-length (3+) and exon 3 deleted (3–), may have differential effects on the growth response of children receiving hGH therapy, whereas others refute this. However, none of the investigations has explored the relationship between these hGHR isoforms and final adult height (FAH) or measures of bone mineral density (BMD) within a healthy adult population.

Objective: The aim of this study was to investigate the possible influences of hGHR exon 3 isoforms on FAH and BMD measures of a normal population.

Design: The study was designed to correlate the hGHR exon 3 genotype of a cohort of healthy adults with FAH, BMDs [spine (L2–L4) and hip (femoral neck)], and quantitative ultrasound (QUS) of the heel.

Patients: Participants were 368 unrelated healthy adult white women, aged 18–35 yr.

Main Outcome Measures: We analyzed association of hGHR exon 3 genotypes with FAH, BMD, and QUS. Heights were measured using a stadiometer, BMDs using dual-energy x-ray absorptiometry, and QUS by standard technique. Detailed medical histories, including lifestyle factors, were obtained using a standardized interview.

Results: The distribution of hGHR genotypes in the 368 samples was 53.3% for 3+/3+, 35.6% for 3+/3–, and 11.1% for 3–/3–. There was no correlation between the hGHR exon 3 genotypes and FAH, BMD, or QUS in this cohort.

Conclusion: The hGHR 3+ and 3– isoforms appear not to have differential effects on two major growth outcomes of hGH action, FAH, and BMD in a population of healthy adult women.




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