D3 GH receptor polymorphism is not associated with IGF1 levels in untreated acromegaly.
BACKGROUND
A discrepancy between serum GH and IGF1 concentrations is frequent in patients with acromegaly. Here, we examined whether the exon 3-deleted (d3) GH receptor (GHR) variant, which has been linked to increased responsiveness to GH treatment in short children, influences the GH/IGF1 relationship in patients with acromegaly.


OBJECTIVE
To study the possible influence of the GHR genotype on the GH/IGF1 relationship in untreated acromegalic patients.


METHODS
GHR genotype analysis with retrospective clinical and biochemical data collection performed in a single third-reference medical center.


METHODS
Clinical data were obtained from the medical records of 105 acromegalic patients who had GH and IGF1 assays in the same laboratory and who were genotyped for the full-length (fl) or d3-GHR alleles.


RESULTS
The distribution of GHR genotypes was 51% fl/fl, 30% fl/d3, and 19% d3/d3. Patients with d3/d3 genotype were younger than the patients in the other two groups (P<0.05). Baseline GH and IGF1 concentrations did not differ among the three groups. The linear correlation between GH and IGF1 concentrations was similar in the three genotypic groups.


CONCLUSIONS
The exon 3 GHR genotype does not affect the GH/IGF1 relationship in untreated acromegalic patients with high circulating GH and IGF1 levels.
Université Paris-Sud 11, Faculté de Médecine Paris-Sud, UMR-S693, Le Kremlin Bicêtre F-94276, France.
Peter
P
Kamenicky
Christine
C
Dos Santos
Consuelo
C
Espinosa
Sylvie
S
Salenave
Françoise
F
Galland
Yves
Y
Le Bouc
Patrick
P
Maison
Pierre
P
Bougnères
Philippe
P
Chanson
D000172:Acromegaly / Q000097:blood* / Q000235:genetics*; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D005838:Genotype; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000378:metabolism*; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D055815:Young Adult
D002352:Carrier Proteins; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D004247:DNA; C051815:somatotropin-binding protein