Association of the growth hormone receptor gene polymorphisms with mandibular height in a Korean population
Association of the growth hormone receptor gene polymorphisms with mandibular height in a Korean population
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DOI：
10.1016/j.archoralbio.2009.03.002
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发表时间：
2009-06-01
影响因子：
3
通讯作者：
Inoue, Ituro
中科院分区：
文献类型：
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作者：
Kang, Eun Hee;Yamaguchi, Tetsutaro;Inoue, Ituro
生长激素受体基因（GHR）是决定形态学特征的可能候选基因之一，因为GH是骨生长的关键调节剂。在日本和中国的不同人群中发现了外显子10的GHR与下颌支高度的遗传关联。另一方面，两种常见的GHR亚型，一种全长型（fl-GHR）和另一种缺乏由外显子3编码的胞外结构域（d3-GHR），与对GH的反应性差异有关。本研究涉及159名韩国受试者，目的是研究导致基因组外显子3缺失的GHR多态性（d3/fl-GHR）与颅面形态之间的关系，以及外显子10的GHR基因型与颅面形态之间的关系。此外，本研究还比较了多民族人群（24名汉族、24名非裔美国人、24名欧裔美国人和24名西班牙裔美国人）GHR多态性（d3/fl-GHR）的等位基因频率。颅面线性测量（颅基长度、上颌长度、下颌总长度、下颌体长度和下颌支高度）作为颅面形态进行检查。我们发现d3/fl-GHR多态性与任何测量都没有关联，而第10外显子P561T和C422F的GHR多态性与下颌分支高度之间存在统计学显著相关（P = 0.024）。除第10外显子P561T和C422F外的snp多态性和下颌支高外的测量值均无统计学意义。在韩国人群中，P561T和C422F snp的两个衍生等位基因仅与单倍型（单倍型-4）高度相关。作为定量单倍型关联，结果显示具有单倍型4的个体与不具有单倍型4的个体的下颌支高度差异显著（P = 0.028）。此外，我们发现d3/fl-GHR多态性在不同人群中表现出不同的频率。关于外显子10的GHR基因型，本研究主要反映了日本人群的结果，尽管我们目前的研究没有重复GHR I526L多态性与下颌分支高度之间的相关性，正如之前对汉人的研究所报道的那样。本研究的结果表明，GHR外显子10 snp，而不是d3/fl-GHR，促成了韩国人下颌分支高度的变化。2009爱思唯尔有限公司版权所有。
Growth hormone receptor gene (GHR) is one of the likely candidates for determining morphological traits, because GH is a key regulator of bone growth. The genetic association of GHR in exon 10 with mandibular ramus height has been found in different populations, Japanese and Chinese. On the other hand, two common isoforms of GHR, one full-length (fl-GHR) and the other lacking the extracellular domain encoded by exon 3 (d3-GHR), are associated with differences in responsiveness to GH. The purpose of this study involving 159 Korean subjects was to study the associations between a GHR polymorphism (d3/fl-GHR) that results in genomic deletion of exon 3 and craniofacial morphology, and to study the associations between GHR genotypes in exon 10 and craniofacial morphology. Moreover, the allelic frequencies in a multi-ethnic population (24 Han Chinese, 24 African-Americans, 24 European-Americans, and 24 Hispanics) in a GHR polymorphism (d3/fl-GHR) were compared in this study. The five craniofacial linear measurements (cranial base length, maxillary length, overall mandibular length, mandibular corpus length, and mandibular ramus height) obtained from lateral cephalograms were examined as craniofacial morphology. We found that the d3/fl-GHR polymorphism had no association for any measurements, and a statistically significant association (P = 0.024) between the GHR polymorphisms P561T and C422F in exon 10 and mandibular ramus height. Neither SNPs besides P561T and C422F polymorphisms in exon 10 nor the measurements besides mandibular ramus height have statistically significances. Both derived alleles at P561T and C422F SNPs were highly associated with only one haplotype, haplotype-4 in Korean population. As quantitative haplotype association, the results showed a significant difference in mandibular ramus height between individuals having one haplotype-4 and others without haplotype-4 (P = 0.028). Moreover, we found that the d3/fl-GHR polymorphism showed diverse frequency in different population. Regarding GHR genotypes in exon 10, the present study mostly reflected the results obtained for a Japanese population, although our current study does not replicate the correlation between the I526L polymorphism of GHR and mandibular ramus height as was reported in a previous study of Han Chinese. The results of the present study suggest that the GHR exon 10 SNPs, not d3/fl-GHR, contribute to changes in the mandibular ramus height of Koreans. (C) 2009 Elsevier Ltd. All rights reserved.