Difference between Japanese and Caucasian populations in the allelic frequency of growth hormone receptor polymorphisms.
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.


OBJECTIVE
We investigated the presence of polymorphisms in the GHR gene in a Japanese population and compared the frequencies with those reported in Caucasian populations.


METHODS
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.
Iida
Keiji
K
Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan. i_idak@med.kobe-u.ac.jp
Takahashi
Yutaka
Y
Kaji
Hidesuke
H
Okimura
Yasuhiko
Y
Nose
Osamu
O
Chihara
Kazuo
K