Relationship of the human growth hormone receptor exon 3 genotype with final adult height and bone mineral density.
BACKGROUND
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.


METHODS
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.


METHODS
Participants were 368 unrelated healthy adult white women, aged 18-35 yr.


METHODS
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.


CONCLUSIONS
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.
Kenth
Gurvinder
G
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.
Shao
Zhuo
Z
Cole
David E C
DE
Goodyer
Cynthia Gates
CG
D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000235:genetics*; D015519:Bone Density / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology; D015331:Cohort Studies; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans
D002352:Carrier Proteins; C051815:somatotropin-binding protein