Difference in height associated with gene polymorphism in genes relating chondrocyte differentiation

身高差异与软骨细胞分化相关基因的基因多态性相关

• 批准号: 10670706
• 负责人: YASUDA Toshiyuki
• 金额: $ 1.98万
• 依托单位: Chiba University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1998
• 资助国家: 日本
• 起止时间: 1998 至 1999
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-10670706/
• 关键词: Height; growth; differentiation; vitamin D; receptor; PTH; PTHrP receptor; proportive; 反復配列多型; プロポーション; ビタミンD受容体

Height growth is under a strong genetic control. 60% of height growth is achieved by endochondral bone formation of long bones. The process consists of proliferation, differentiation, apoptosis of chosndrocyte to give rise to final calcification.1) There is a polymorphism in the first intiation codon of vitamin D receptor gene (AT/CG). The ACG genotype encodes vitamin D receptor protein of shorter form by three amino acids. In young adult females, ATG/ACG heetrozygotes showed significantly taller height(2-5.6 cm,p<0.05).2) We have identified a novel AAAG repeat polymorphism in the human PTH/PTHrP receptor gene ranging in repeat number from 3 to 8. The increase in repeat number resulted in reduced promoter activity examined in two human osteosarcoma cell lines. This polymorphism is also associated with a difference in height.3) Since there is none normal value for upper lower segment ratio in Japanese. We have decided to produce the normal value by measuring both height and lower segment length in more than 800 children. The normal values thus obtained should be useful in the future study.

身高的增长受到很强的遗传控制。60%的身高增长是通过长骨的软骨内骨形成实现的。结论：1）维生素D受体基因第一起始密码子（AT/CG）存在多态性; ACG基因型通过三个氨基酸编码较短形式的维生素D受体蛋白。在年轻的成年女性中，ATG/ACG杂合子显示出显著更高的身高（2-5.6 cm，p<0.05）。2）我们已经在人PTH/PTHrP受体基因中鉴定了一种新的AAAG重复多态性，重复数范围为3 - 8。在两个人骨肉瘤细胞系中，重复数目的增加导致启动子活性降低。这种多态性也与身高的差异有关。3）由于日本人的上下段比率没有正常值。我们决定通过测量800多名儿童的身高和下段长度来得出正常值。由此获得的正常值在未来的研究中应该是有用的。

项目成果

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