First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

European Journal of Human Genetics

Volumn 6, Issue 2, 1998, Pages 151-157

  Devoto, M ^a,b   Shimoya, K ^c   Caminis, J ^d   Ott, J ^a   Tenenhouse, A ^d   Whyte, M P ^e   Sereda, L ^c   Hall, S ^c   Considine, E ^c   Williams, C J ^c   Tromp, G ^c   Kuivaniemi, H ^c   Ala Kokko, L ^f   Prockop, D J ^f   Spotila, L D ^c  

^a ROCKEFELLER UNIVERSITY   (United States)

^b G GASLINI INSTITUTE   (Italy)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d MCGILL UNIVERSITY   (Canada)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f Allegheny Univ of Medical Sciences   (United States)

Author keywords

Bone density; Family study; Genes; Genome screen; Linkage; Non parametric; Osteopenia; Osteoporosis; Quantitative trait; Sib pair; Skeleton

Indexed keywords

DNA MARKER;

ARTICLE; AUTOSOME; BONE DENSITY; BONE MINERAL; CHROMOSOME 11Q; CHROMOSOME 1P; CHROMOSOME 2P; CHROMOSOME 4Q; GENETIC LINKAGE; GENETIC MODEL; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE; HIP; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; OSTEOPENIA; PEDIGREE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; SPINE; STATISTICAL ANALYSIS;

EID: 13144252230     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200169     Document Type: Article

References (35)

1. Riggs BL and Melton III LJ: Preface. In Riggs BL, Melton III LJ (eds): Osteoporosis. Etiology, Diagnosis and Management, 2nd edn. Lippincott-Raven: Philadelphia, 1995, p xv.
2. Riggs BL, Wahner HW, Melton III LJ, Richelson LS, Judd HL, Offord KP: Rates of bone loss in the appendicular and axial skeletons of women. Evidence of substantial vertebral bone loss before menopause. J Clin Invest 1986; 77: 1487-1491.
3. Ott SM: Editorial: Attainment of peak bone mass. J Clin Endocrinol Metab 1990; 71: 1082A-1082C.
4. Gilsanz V, Roe TF, Mora S, Costin G, Goodman WG: Changes in vertebral bone density in black girls and white girls during childhood and puberty. N Eng J Med 1991; 325: 1597-1600.
5. Lloyd T, Rollings N, Andon MB et al: 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 1992; 75: 383-386.
6. Smith DM, Nance WE, Kang KW, Christian JC, Johnston Jr CC: Genetic factors in determining bone mass. J Clin Invest 1973; 52: 2800-2808.
7. Pocock NA, Eisman JA, Hopper JL, Yeates MG, Sambrook PN, Eberl S: Genetic determinants of bone mass in adults. A twin study. J Clin Invest 1987; 80: 706-710.
8. Dequeker J, Nijs J, Verstraeten A, Geusens P, Gevers G: Genetic determinants of bone mineral content at the spine and radius: a twin study. Bone 1987; 8: 207-209.
9. Kelly PJ, Hopper JL, Macaskill GT, Pocock NA, Sambrook PN, Eisman JA: Genetic factors in bone turnover. J Clin Endocrinol Metab 1991; 72: 808-813.
10. Seeman E, Hopper JL, Bach LA, Cooper ME, Parkinson E, McKay J, Jerums G: Reduced bone mass in daughters of women with osteoporosis. N Engl J Med 1989; 320: 554-558.
11. Hansen MA, Hassager C, Jensen SB, Christiansen C: Is heritability a risk factor for postmenopausal osteoporosis?. J Bone Min Res 1992; 7: 1037-1043.
12. Soroko SB, Barrett-Connor E, Edelstein SL, Kritz-Silverstein D: Family history of osteoporosis and bone mineral density at the axial skeleton: the Rancho Bernardo Study. J Bone Min Res 1994; 9: 761-769.
13. Byers PG, Wallis GA, Willing MC: Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991; 28: 433-442.
14. Kuivaniemi H, Tromp G, Prockop DJ: Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J 1991; 5: 2052-2060.
15. Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ: Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. Proc Natl Acad Sci (USA) 1991; 88: 5423-5427.
16. Spotila LD, Colige A, Sereda L et al: Mutation analysis of coding sequences for type I procollagen in individuals with low bone density. J Bone Min Res 1994; 9: 923-932.
17. Grant SFA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH: Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α1 gene. Nature Genet 1996; 14: 203-205.
18. Peacock M: Vitamin D receptor gene alleles and osteoporosis: a contrasting view. J Bone Min Res 1995; 10: 1294-1297.
19. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H: Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Min Metab 1996; 11: 306-311.
20. Gong Y, Vikkula M, Boon L et al: Osteoporosis-pseudolglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Amer J Hum Genet 1996; 59: 146-151.
21. Johnson ML, Gong G, Kimberling W, Recker SM, Kimmel DB, Recker RR: Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13). Am J Hum Genet 1997; 60: 1326-1332.
22. Spotila LD, Caminis J, Devoto M et al: Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance. Molec Med 1996; 2: 313-324.
23. n polymorphisms. Genomics 1990; 7: 524-530.
24. Weber JL, May PE: Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1991; 44: 388-396.
25. Lathrop GM, Lalouel JM, Julier C, Ott J: Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984; 81: 3443-3446.
26. Haseman JK, Elston RC: The investigation of linkage between a quantitative trait and a marker locus. Behav Genet 1972; 2: 3-19.
27. Kruglyak L, Lander E: Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet 1995; 57: 439-454.
28. Gu C, Todorov A, Rao DC: Combining extremely concordant sib pairs with extremely discordant sib pairs provides a cost effective way to linkage analysis of quantitative trait loci. Genet Epidem 1996; 13: 513-533.
29. Abrahamsen B, Hansen TB, Bjorn Jensen L, Hermann AP, Eiken P: Site of osteodensitometry in perimenopausal women: correlation and limits of agreement between anatomic regions. J Bone Min Res 1997; 12: 1471-1479.
30. Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet 1995; 11: 241-247.
31. Hautala T, Byers MG, Eddy RL, Shows TB, Kivirikko KI, Myllyla R: Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3-> p36.2. Genomics 1992; 13: 62-69.
32. Kivirikko KI, Myllyla R: Post-translational processing of procollagens. Ann NY Acad Sci 1985; 460: 187-201.
33. Jensen SJ, Sulman EP, Maris JM et al: An integrated transcript map of human chromosome 1p35-36. Genomics 1997; 42: 126-136.
34. Daniels SE, Bhattacharrya S, James A et al: A genomewide search for quantitative trait loci underlying asthma. Nature 1996; 383: 247-250.
35. Comuzzie AG, Hixson JE, Almasy L: A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nature Genet 1997; 15: 273-276.