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Journal of Dental Research
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Clinical

The Growth Hormone Receptor Gene is Associated with Mandibular Height in a Chinese Population

J. Zhou1,2, Y. Lu1, X.H. Gao1, Y.C. Chen2, J.J. Lu2, Y.X. Bai1, Y. Shen2,3,* and B.K. Wang1,*

1 Department of Orthodontics Faculty of Stomatology Capital, University of Medical Sciences, Beijing, 100050 P.R. China
2 National Center of Human Genome Research (Beijing), Beijing 100176 P.R. China
3 National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100005 P.R. China

Correspondence: * corresponding authors: bangkangwang{at}hotmail.comsheny{at}ms.imicams.ac.cn

Genetic influences are important in the determination of mandibular morphology, and growth hormone receptor (GHR) is believed to have an important influence on the growth of craniofacial bone. In this study, we used quantitative trait locus methods to evaluate the relationship between craniofacial morphology and single-nucleotide polymorphisms (SNPs) in GHR in an unselected healthy Chinese population. We systematically screened the 10 exons and nearby introns of GHR and identified 6 SNPs. Using 4 SNPs as markers, we studied the relationships between genotypes and craniofacial linear measurements. Individuals with the genotype CC of polymorphism I526L had a significantly greater mandibular ramus length (condylion-gonion/ articulare-gonion) than those with genotype AC or AA. Haplotype analysis showed that there were also significant differences between the long and short mandibular height groups in an extreme population. Our results indicate that the GHR gene polymorphism I526L is associated with mandibular height in the Chinese population.

Key Words: mandibular height • QTL analysis • single-nucleotide polymorphism • growth hormone receptor gene.

Journal of Dental Research, Vol. 84, No. 11, 1052-1056 (2005)
DOI: 10.1177/154405910508401116
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