Iida Keiji, Takahashi Yutaka, Kaji Hidesuke, Okimura Yasuhiko, Nose Osamu, Chihara Kazuo
Division of Diabetes, Metabolism, and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
J Pediatr Endocrinol Metab. 2009 Jan;22(1):41-6. doi: 10.1515/jpem.2009.22.1.41.
Polymorphisms in the growth hormone receptor (GHR) gene were reported in Caucasian populations. However, the frequency of those in other ethnic backgrounds remains unclear.
We investigated the presence of polymorphisms in the GHR gene in a Japanese population and compared the frequencies with those reported in Caucasian populations.
We selected 30 children with idiopathic short stature and 30 adult Japanese of normal height.
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.
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.
The frequencies of the G168G polymorphism and GHR-d3 in Japanese are different from those in Caucasians.
