Research article summary (published 29 Sep 2009):

Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population.

Full Abstract

INTRODUCTION: Craniofacial morphology has a significant genetic component. It has recently been reported that single nucleotide polymorphisms (SNPs) in the growth hormone receptor gene (GHR) are associated with mandibular height. To confirm these findings, we genotyped SNPs in healthy Japanese subjects, about 1.7 times the number analyzed in previous reports. METHODS: By using 5 SNPs in exon 10 of the GHR, we studied the relationships between genotypes and craniofacial linear measurements. The allelic frequencies in a multi-ethnic population (Han Chinese, African American, European American, and Hispanic) were also observed. RESULTS: There was a significant association between SNPs and mandibular ramus height (P = 0.029), confirming our previous report of an association between polymorphism P561T and mandibular ramus height. Moreover, the SNP, C422F, was in linkage disequilibrium with P561T. Subjects with genotype CC of polymorphism P561T and genotype GG of polymorphism C422F had significantly greater mandibular ramus height than those with genotypes CA and GT. Four of the 5 SNPs were found almost exclusively in Asians, with the frequencies in other populations extremely small. CONCLUSIONS: Our results indicate that the GHR polymorphisms P561T and C422F are associated with mandibular ramus height in Japanese population and suggest that the SNPs of the GHR associated with the Japanese are likely to be different in other ethnic groups. This might partly explain the differing craniofacial morphology among different ethnicities.

Author information

Author/s: Tomoyasu, Yoko (Y); Yamaguchi, Tetsutaro (T); Tajima, Atsushi (A); Nakajima, Toshiaki (T); Inoue, Ituro (I); Maki, Koutaro (K);

Affiliation: Department of Orthodontics, School of Dentistry, Showa University, Tokyo, Japan.

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics (Am J Orthod Dentofacial Orthop), published in United States. (Language: eng)

Reference: 2009-Oct; vol 136 (issue 4) : pp 536-41

Dates: Created 2009/10/09; Completed 2009/10/29;

PMID: 19815155, status: MEDLINE (last retrieval date: 10/29/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adenine Adolescent Adult African Americans - genetics Asian Continental Ancestry Group - genetics Cephalometry China - ethnology Cysteine - genetics Cytosine European Continental Ancestry Group - genetics Exons - genetics Female Gene Frequency - genetics Genotype Guanine

Hispanic Americans - genetics Humans Japan Linkage Disequilibrium - genetics Male Mandible - anatomy & histology Middle Aged Phenylalanine - genetics Polymorphism, Genetic - genetics Polymorphism, Single Nucleotide - genetics Proline - genetics Receptors, Somatotropin - genetics Threonine - genetics Thymine Young Adult

Associated Chemicals: Receptors, Somatotropin (0) ; Proline (147-85-3) ; Cysteine (52-90-4) ; Phenylalanine (63-91-2) ; Thymine (65-71-4) ; Cytosine (71-30-7) ; Threonine (72-19-5) ; Adenine (73-24-5) ; Guanine (73-40-5)

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