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Bone Mineral Density and Polymorphism of Candidate Genes Regulating the Onset of Osteoporosis.

骨矿物质密度和调节骨质疏松症发病的候选基因多态性。

基本信息

批准号：
14370462
负责人：
TSUBOYAMA Tadao
金额：
$ 3.01万
依托单位：
KYOTO UNIVERSITY
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2002
资助国家：
日本
起止时间：
2002 至 2003
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14370462/
关键词：
Osteoporosis Bone density Polymorphism Candidate gene モデル動物

项目摘要

The correlation was investigated between bone mineral density (BMD) of lumber spine or proximal femur and polymorphic genotype of several genes in 73 healthy young women. Among the genes studied, three had already been reported as candidate genes controlling bone density, i. e., Estrogen receptor α, Vitamin D receptor, and 5, 10-Methylenetetrahydrofolate Reductase (MTHFR). Another gene, IFP35, was a new candidate gene, from the study of an animal model using interval-specific congenic mice between SAMP6 and SAMP2 strains.There was no correlation between BMD and polymorphism of Estrogen receptor α and Vitamin D receptor, while VV genotype of MTHFR showed significantly higher BMDs in 1^<st>, 2^<nd>, and 3^<rd> lumber spine than other genotypes. Regarding IPF35, direct sequencing of all the exons revealed no polymorphism among the population studied.Sub-congenic strains between SAMP6 and SAMP2 confirmed the existence of loci regulating bone density in a 3 cM interval on Chr 13. All the exons of 74 genes in this interval were sequenced, and polymorphisms with amino acid substitution were found in 15 genes. Among them, Ggps1 (gerany1-gerany1 diphosphate synthase 1) and Tbce (tubullin specific chaperone E) seemed to be possible candidate genes.

对73例健康青年女性腰椎和股骨近端骨密度（BMD）与多个基因多态性的相关性进行了研究。在所研究的基因中，有三个已被报道为控制骨密度的候选基因，即：例如，雌激素受体α、维生素D受体和5，10-亚甲基四氢叶酸还原酶（MTHFR）。IFP 35基因是在SAMP 6和SAMP 2之间间隔特异性同源小鼠动物模型研究中发现的一个新的候选基因，雌激素受体α和维生素D受体基因多态性与BMD无相关性，而MTHFR基因VV型在第1<st>、2<nd>、3腰椎<rd>BMD显著高于其他基因型。关于IPF 35，所有外显子的直接测序显示，没有多态性的研究人群中。SAMP 6和SAMP 2之间的亚同源菌株证实了存在的基因座调节骨密度在3 cM的间隔Chr 13。对该区间内74个基因的外显子进行了全序列测定，发现15个基因存在氨基酸替换多态性。其中，Ggps 1（gerany 1-gerany 1 diphosphate synthase 1）和Tbce（tubullin specific chaperone E）可能是候选基因。