Association of a -1997G → T polymorphism of the collagen Iα1 gene with bone mineral density in postmenopausal Japanese women

Human Biology

Volumn 77, Issue 1, 2005, Pages 27-36

  Yamada, Yoshiji ^a   Ando, Fujiko ^b   Niino, Naoakira ^b   Shimokata, Hiroshi ^b  

^a MIE UNIVERSITY   (Japan)

^b NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

Author keywords

Bone mineral density; COLA1A; Collagen I 1; Japan; Osteoporosis

Indexed keywords

ALKALINE PHOSPHATASE; AMINO TERMINAL TELOPEPTIDE; COLLAGEN TYPE 1; DEOXYPYRIDINOLINE; PRIMER DNA; COLLAGEN;

ADULT; AGED; ARTICLE; BONE DENSITY; COHORT ANALYSIS; DUAL ENERGY X RAY ABSORPTIOMETRY; FEMALE; FEMUR NECK; GENETIC POLYMORPHISM; GENOTYPE; GROUPS BY AGE; HUMAN; JAPAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE ANALYSIS; POSTMENOPAUSE; URINARY EXCRETION; ANALYSIS OF VARIANCE; ASIAN; ETHNOLOGY; GENETIC SCREENING; GENETICS; MIDDLE AGED; POSTMENOPAUSE OSTEOPOROSIS; PROMOTER REGION; PROSPECTIVE STUDY; RADIODENSITOMETRY;

ADULT; AGED; ANALYSIS OF VARIANCE; ASIAN CONTINENTAL ANCESTRY GROUP; BONE DENSITY; COLLAGEN; DENSITOMETRY, X-RAY; DNA PRIMERS; FEMALE; GENETIC SCREENING; GENOTYPE; HUMANS; JAPAN; MIDDLE AGED; OSTEOPOROSIS, POSTMENOPAUSAL; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); PROSPECTIVE STUDIES;

EID: 21744446582     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: 10.1353/hub.2005.0035     Document Type: Article

References (25)

1. Devoto, M., K. Shimoya, J. Caminis et al. 1998. First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p, and 4p. Eur. J. Hum. Genet. 6:151-157.
2. Garcia-Giralt, N., X. Nogués, A. Enjuanes et al. 2002. Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density. J. Bone Miner. Res. 17:384-393.
3. Garnero, P., O. Borel, S. F. A. Grant et al. 1998. Collagen Í1 Sp1 polymorphism, bone mass, and bone turnover in healthy French premenopausal women: The OFELY Study. J. Bone Miner. Res. 13:813-817.
4. Grant, S. F. A., D. M. Reid, G. Blake et al. 1996. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type Í1 gene. Nat. Genet. 14:203-205.
5. Heegaard, A., H. L. Jorgensen, A. W. Vestergaard et al. 2000. Lack of influence of collagen type Í1 Sp1 binding site polymorphism on the rate of bone loss in a cohort of postmenopausal Danish women followed for 18 years. Calcif. Tissue Int. 66:409-413.
6. Hustmyer, F. G., G. Liu, C. C. Johnston et al. 1999. Polymorphism at an Sp1 binding site of COL1A1 and bone mineral density in premenopausal female twins and elderly fracture patients. Osteoporosis Int. 9:346-350.
7. Ishida, R., M. Emi, Y. Ezura et al. 2003. Association of a haplotype (196Phe/532Ser) in the interleukin-1-receptor associated kinase (IRAK1) gene with low radial bone mineral density in two independent populations. J. Bone Miner. Res. 18:419-423.
8. Johnson, M. L., G. Gong, W. Kimberling et al. 1997. Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13). Am. J. Hum. Genet. 60:1,326-1,332.
9. Kanis, J. A., L. J. Melton III, C. Christiansen et al. 1994. The diagnosis of osteoporosis. J. Bone Miner. Res. 9:1,137-1,141.
10. Kobayashi, S., S. Inoue, T. Hosoi et al. 1996. Association of bone mineral density with polymorphism of the estrogen receptor gene. J. Bone Miner. Res. 11:306-311.
11. Koller, D. L., M. J. Econs, P. A. Morin et al. 2000. Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J. Clin. Endocrinol. Metab. 85:3,116-3,120.
12. Koller, D. L., L. A. Rodriguez, J. C. Christian et al. 1998. Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13. J. Bone Miner. Res. 13:1,903-1,908.
13. Langdahl, B. L., S. H. Ralston, S. F. Grant et al. 1998. An Sp1 binding site polymorphism in the COL1A1 gene predicts osteoporotic fractures in both men and women. J. Bone Miner. Res. 13:1,384-1,389.
14. Liden, M., B. Wilen, S. Ljunghall et al. 1998. Polymorphism at the Sp1 binding site in the collagen type Iα1 gene does not predict bone mineral density in postmenopausal women in Sweden. Calcif. Tissue Int. 63:293-295.
15. Mann, V., E. E. Hobson, B. Li et al. 2001. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J. Clin. Invest. 107:899-907.
16. Morrison, N. A., J. C. Qi, A. Tokita et al. 1994. Prediction of bone density from vitamin D receptor alleles. Nature 367:284-287.
17. Niu, T. H., C. Z. Chen, H. Cordell et al. 1999. A genome-wide scan for loci linked to forearm bone mineral density. Hum. Genet. 104:226-233.
18. Peacock, M., C. H. Turner, M. J. Econs et al. 2002. Genetics of osteoporosis. Endocr. Rev. 23:303-326.
19. Shimokata, H., F. Ando, and N. Niino. 2000. A new comprehensive study on aging: The National Institute for Longevity Sciences, Longitudinal Study of Aging (NILS-LSA). J. Epidemiol. 10:S1-S9.
20. Sykes, B. 1990. Bone disease cracks genetics. Nature 348:18-20.
21. Uitterlinden, A. G., H. Burger, Q. Huang et al. 1998. Relation of alleles of the collagen type Iα1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. New Engl. J. Med. 338:1,016-1,021.
22. Yamada, Y., F. Ando, N. Niino et al. 2001. Transforming growth factor-β1 gene polymorphism and bone mineral density. J. Am. Med. Assoc. 285:167-168.
23. Yamada, Y., F. Ando, N. Niino et al. 2003a. Association of polymorphisms of interleukin-6, osteocalcin, and vitamin D receptor genes, alone or in combination, with bone mineral density in community-dwelling Japanese women and men. J. Clin. Endocrinol. Metab. 88:3,372-3,378.
24. Yamada, Y., F. Ando, N. Niino et al. 2003b. Association of polymorphisms of paraoxonase 1 and 2 genes, alone or in combination, with bone mineral density in community-dwelling Japanese. J. Hum. Genet. 48:469-475.
25. Yamada, Y., H. Izawa, S. Ichihara et al. 2002. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. New Engl. J. Med. 347:1,916-1,923.