Osteopenia in 37 members of seven families: Analysis based on a model of dominant inheritance

Molecular Medicine

Volumn 2, Issue 3, 1996, Pages 313-324

  Spotila, Loretta D ^a   Caminis, John ^b   Devoto, Marcella ^c   Shimoya, Koichiro ^a   Sereda, Larisa ^a   Ott, Jürg ^c   Whyte, Michael P ^d   Tenenhouse, Alan ^b   Prockop, Darwin J ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b MONTREAL GENERAL HOSPITAL   (Canada)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ADULT; ARTICLE; BONE DENSITY; BONE MINERAL; CLINICAL PROTOCOL; DOMINANT INHERITANCE; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HUMAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; MALE; OSTEOPENIA; PEDIGREE; PRIORITY JOURNAL; QUANTITATIVE TRAIT;

EID: 0029833017     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401629     Document Type: Article

References (53)

1. Melton III LJ. (1988) Epidemiology of fractures. In: Riggs Jr BL, Melton LJ (eds) Osteoporosis: Etiology, Diagnosis, and Management. Raven Press, New York, pp. 133.
2. Hui SL, Slemenda CW, Johnston PH, Johnston CC. (1989) Baseline measurement of bone mass predicts fracture in white women. Ann. Intern. Med. III: 355-361.
3. Wasnich RD, Ross PD, Davis JW, Vogel JM. (1989) A comparison of single and multi-site BMC measurements for assessment of spine fracture probability. J. Nucl. Med. 30: 1166-1171.
4. Lloyd T, Rollings N, Andon MB, et al. (1992) Determinants of bone density in young women. I. Relationships among pubertal development, total body bone mass, and total body bone density in premenarchal females. J. Clin. Endocrinol. Metab. 75: 383-386.
5. Gilsanz V, Roe TP, Mora S, Costin G, Goodman WG. (199) Changes in vertebral bone density in black girls and white girls during childhood and puberty. N. Engl. J. Med. 325: 1597-1600.
6. Ott SM. (1990) Editorial: Attainment of peak bone mass. J. Clin. Endocrinol. Metab. 71: 1082A-1082C.
7. Riggs BL, Wahner HW, Melton III. JL, Richelson LS, Judd HL, Offord KP. (1986) Rates of bone loss in the appendicular and axial skeletons of women. Evidence of substantial vertebral bone loss before menopause. J. Clin. Invest. 77: 1487-1491.
8. Lutz J, Tesar R. (1987) Mother-daughter pairs: spinal and femoral bone densities and dietary intakes. Am. J. Clin. Nutr. 52: 872-877.
9. Pocock NA, Eisman JA, Hopper JL, Yeates MG, Sambrook PN, Eberl S. (1987) Genetic determinants of bone mass in adults. A twin study. J. Clin. Invest. 80: 706-710.
10. Kelly PJ, Hopper JL, Macaskill GT, Pockock NA, Sambrook PN, Eisman JA. (1991) Genetic factors in bone turnover. J. Clin. Endocrinol. Metab. 72: 808-813.
11. Dequeker J, Nijs J, Verstraeten A, Geusens P, Gevers G. (1987) Genetic determinants of bone mineral content at the spine and radius: A twin study. Bone 8: 207-209.
12. Smith DM, Nance WE, Kang KW, Christian JC, Johnston Jr CC. (1973) Genetic factors in determining bone mass. J. Clin. Invest. 52: 2800-2808.
13. Seeman E, Hopper JL, Bach LA, et al. (1989) Reduced bone mass in daughters of women with osteoporosis. N. Engl. J. Med. 320: 554-558.
14. Hansen MA, Hassager C, Jensen SB, Christiansen C. (1992) Is heritability a risk factor for postmenopausal osteoporosis? J. Bone Miner. Res. 7: 1037-1043.
15. Krall EA, Dawson-Hughes B. (1989) Heritable and life-style determinants of bone mineral density. J. Bone Miner. Res. 8: 1-9.
16. Pollitzer WS, Anderson JJB. (1989) Ethnic and genetic differences in bone mass: A review with a hereditary vs environmental perspective. Am. J. Clin. Nutr. 50: 1244-1259.
17. Kuivaniemi H, Tromp G, Prockop DJ. (1991) Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J. 5: 2052-2060.
18. Byers PH, Wallis GA, Willing MC. (1991) Osteogenesis imperfecta: Translation of mutation to phenotype. J. Med. Genet. 28: 433-442.
19. 3-resistant rickets in three families. Proc. Natl. Acad. Sci. U. S. A. 86: 9783-9787.
20. Spotila LD, Colige A, Sereda L, et al. (1994) Mutation analysis of coding sequences for type I procollagen in individuals with low bone density. J. Bone Miner. Res. 9: 923-932.
21. Morrison NA, Qi JC, Tokita A, et al. (1994) Prediction of bone density from vitamin D receptor alleles. Nature 367: 284-287.
22. Hustmyer FG, Peacock M, Hui S, Johnston CJ, Christian J. (1994) Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus. J. Clin. Invest. 94: 2130-2134.
23. Wahner HW. (1989) Measurements of bone mass and bone density. Endocrinol. Metab. Clin. North Am. 18: 995-1012.
24. Ott J. (1979) Detection of rare major genes in lipid levels. Hum. Genet. 51: 79-91.
25. Lathrop GM, Lalouel JM, Julier C, Ott J. (1984) Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. U. S. A. 81: 3443-3446.24.
26. Riggs BL, Melton LJ. (1986) Involutional osteoporosis. N. Engl. J. Med. 314: 1676-1686.
27. Mazess R, Chestnut CH, McClung M, Genant H. (1992) Enhanced precision with dual-energy x-ray absorptiometry. Calcif. Tissue Int. 51: 14-17.
28. Weeks DE, Ott J, Lathrop GM. (1990) SLINK: a general simulation program for linkage analysis. Am. J. Hum. Genet. 47: A204.
29. Ott J. (1989) Computer-simulation methods in human linkage analysis. Proc. Natl. Acad. Sci. U. S. A. 86: 4175-4178.
30. Chi DD, Hing AV, Helms C, Steinbrueck T, Mishra SK, Donis-Keller H. (1992) Two chromosome 7 dinucleotide repeat polymorphisms at gene loci epidermal growth factor receptor (EGFR) and proα2(I) collagen (COL1A2). Hum. Mol. Genet. 1: 135.
31. n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta. Hum. Mutat. 2: 300-305.
32. Cooperative Human Linkage Center (CHLC). (1994) A comprehensive human linkage map with centimorgan density. Science 265: 2049-2073.
33. Dow E, Ferguson-Smith AC, Caplin B, Williamson R. (1992) Dinucleotide repeat polymorphism at the HOX 2B locus. Hum. Mol. Genet. 1: 218.
34. Gyapay G, Morissette J, Vignal A, et al. (1994) The 1993-94 Genethon genetic linkage map. Nat. Genet. 7: 246-339.
35. Wu S, Seino S, Bell GI. (1990) Human collagen, type II, alpha I, (COL2A1) gene: VNTR polymorphism detected by gene amplification. Nucleic Acids Res. 18: 3102.
36. Berg ES, Olaisen B. (1993) Characterization of the COL2A1 VNTR polymorphism. Genomics 16: 350-354.
37. Thode HC, Finch SJ, Mendell NR. (1988) Simulated percentage points for the null distribution of the likelihood ratio test for a mixture of two normals. Biometrics 44: 1195-1201.
38. Labuda M, Fujiwara TM, Ross MV, et al. (1992) Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. .J. Bone Miner. Res. 7: 1447-1453.
39. NIH/CEPH Collaborative Mapping Group. (1992) A comprehensive genetic linkage map of the human genome. Science 258: 67-86.
40. Easton DF, Bishop DT, Ford D, Crockford GP, the Breast Cancer Linkage Consortium. (1993) Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am. J. Hum. Genet. 52: 678-701.
41. Peltomäki P, Aaltonen LA, Sistonen P, et al. (1993) Genetic mapping of a locus predisposing to human colorectal cancer. Science 260: 810-811.
42. Davies JL, Kawaguchi Y, Bennett ST, et al. (1994) A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371: 130-136.
43. Jeunemaitre X, Soubrier F, Kotelevtsev YV, et al. (1992) Molecular basis of human hypertension: role of angiotensinogen. Cell 71: 169-180.
44. Weissenbach JG, Gyapay C, Dib C, et al. (1992) A second-generation linkage map of the human genome. Nature 359: 794-801.
45. Ferrari S, Rizzoli R, Chevalley T, Slosman D, Eisman JA, Bonjour J-P. (1995) Vitamin-D-receptor-gene polymorphisms and change in lumbar-spine bone mineral density. Lancet 345: 423-424.
46. Yamagata Z, Miyamura T, Iijima S, Asaka A, Kato J, Koizumi K. (1994) Vitamin D receptor gene polymorphism and bone mineral density in healthy Japanese women. Lancet 344: 1027.
47. Krall EA, Parry P, Lichter JB, Dawson-Hughes B. (1995) Vitamin D receptor alleles and rates of bone loss: Influences of years since menopause and calcium intake. J. Bone Miner. Res. 10: 978-984.
48. Fleet JC, Harris SS, Wood RJ, Dawson-Hughes B. (1995) The BsmI vitamin D receptor restriction fragment length polymorphism (BB) predicts low bone density in premenopausal black and white women. J. Bone Miner. Res. 10: 985-990.
49. Riggs BL, Nguyen TV, Melton LJ, et al. (1995) The contribution of vitamin D receptor gene alleles to the determination of bone mineral density in normal and osteoporotic women. J. Bone Miner. Res. 10: 991-996.
50. Spector TD, Keen RW, Arden NK, et al. (1995) Vitamin D receptor gene (VDR) alleles and bone density in postmenopausal women: A UK twin study. Br. Med. J. 310: 1357-1360.
51. Melhus H, Kindmark A, Amer S, et al. (1994) Vitamin D receptor genotypes in osteoporosis. Lancet 344: 949-950.
52. Gallagher JC, Goldgar D, Kinyamu H, Fannon P. (1994) Vitamin D receptor genotypes in type 1 osteoporosis. J. Bone Miner. Res. 9 (Suppl 1): 90.
53. Looney J, Fischer M, Yoon H, et al. (1995) Lack of high prevalence of the BB vitamin D receptor genotype in severely osteoporotic women. J. Clin. Endocrinol. Metab. 80: 2158-2162.