| 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)
|
|---|
| Budget Amount *help |
¥4,700,000 (Direct Cost: ¥4,700,000)
Fiscal Year 2003: ¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 2002: ¥2,600,000 (Direct Cost: ¥2,600,000)
|
|---|
| 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.
|
