2003 Fiscal Year Final Research Report Summary
Bone Mineral Density and Polymorphism of Candidate Genes Regulating the Onset of Osteoporosis.
| Project/Area Number |
14370462
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Orthopaedic surgery
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| Research Institution | KYOTO UNIVERSITY |
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Principal Investigator |
TSUBOYAMA Tadao KYOTO UNIVERSITY, FACULTY OF MEDICINE, Professor, 医学部, 教授 (90261221)
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| Co-Investigator(Kenkyū-buntansha) |
HOSOKAWA Masanori AICHI HUMAN SERVICE CENTER, INSTITUTE FOR DEVELOPMENTAL RESEARCH, DEPARTMENT OF PATHOLOGY, Department Head, 究所, 病理学部長 (00127135)
SHIMIZU Motoyuki KYOTO UNIVERSITY, GRADUATE SCHOOL OF MEDICINE, Assistant Professor, 医学研究科, 助手 (10343229)
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| Project Period (FY) |
2002 – 2003
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| Keywords | Osteoporosis / Bone density / Polymorphism / Candidate gene |
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| Research Abstract |
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.
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[Publications] Shimizu M, Higuchi K, Kasai S, Tsuboyama T, Matsushita M, Matsumura T, Okudaira S, Mori M, Koizumi A, Nakamura T, Hosokawa M.: "A congenic mouse and candidate gene at the Chromosome 13 locus regulating bone density."Mamm Genome. 13(7). 335-340 (2002)
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