Journal Article

The P561T polymorphism of the growth hormone receptor gene has an inhibitory effect on mandibular growth in young children

Yasunori Sasaki, Kyoko Satoh, Haruaki Hayasaki, Satoshi Fukumoto, Taku Fujiwara and Kazuaki Nonaka

in The European Journal of Orthodontics

Published on behalf of European Orthodontics Society

Volume 31, issue 5, pages 536-541
Published in print October 2009 | ISSN: 0141-5387
Published online May 2009 | e-ISSN: 1460-2210 | DOI: http://dx.doi.org/10.1093/ejo/cjp017
The P561T polymorphism of the growth hormone receptor gene has an inhibitory effect on mandibular growth in young children

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P561T heterozygous missense mutation in the growth hormone receptor (GHR) is a candidate genetic polymorphism (single-nucleotide polymorphism) for human mandibular growth. The purpose of this study was to assess whether this mutation affects mandibular growth during early childhood. The difference in mandibular growth between P561T heterozygous and wild-type individuals was analysed by cephalometric measurements during childhood. The subjects included 33 children with mandibular protrusion (aged 3–12 years, 16 males and 17 females) and 27 normal children (aged 3–13 years, 14 males and 13 females). Genomic DNA extracted from buccal epithelial cells was genotyped for the P561T heterozygous mutation with a molecular analysis (polymerase chain reaction—restriction fragment length polymorphism method). Two of the patients with normal occlusion and five with mandibular protrusion were heterozygous for the mutation.

Chi-square analysis showed that the frequency of this mutation did not differ statistically between the normal and mandibular protrusion subjects. Multilevel model analysis of the 101 cephalograms showed that the mutation reduced the linear measurements of the mandible. These findings suggest that P561T heterozygous mutation affects mandibular growth during early childhood, and this mutation in the GHR gene is hypothesized to function as an inhibitory factor in the process of mandibular growth.

Journal Article.  2898 words.  Illustrated.

Subjects: Restorative Dentistry and Orthodontics

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