Background: Polymorphisms in the growth hormone receptor (GHR) gene were reported in Caucasian populations. However, the frequency of those in other ethnic backgrounds remains unclear.
Aim: We investigated the presence of polymorphisms in the GHR gene in a Japanese population and compared the frequencies with those reported in Caucasian populations.
Population: We selected 30 children with idiopathic short stature and 30 adult Japanese of normal height.
Methods: The sequences of exons 6 and 10 in the GHR gene were determined by direct sequencing by polymerase chain reaction (PCR). The genomic deletion of exon 3 (GHR-d3) was investigated by multiplex PCR.
Results: The frequency of the GGG genotype at codon 168 was significantly higher than that reported in Caucasian populations. The frequency of GHR-d3 in Japanese was significantly lower than that in Caucasian populations.
Conclusions: The frequencies of the G168G polymorphism and GHR-d3 in Japanese are different from those in Caucasians.