Evidence for a major gene for bone mineral density in idiopathic osteoporotic families

Journal of Bone and Mineral Research

Volumn 15, Issue 6, 2000, Pages 1132-1137

  Cardon, Lon R ^a,e   Garner, C ^a   Bennett, S T ^b   Mackay, I J ^b   Edwards, R M ^b   Cornish, J ^c   Hegde, M ^d   Murray, M A F ^c   Reid, I R ^c   Cundy, T ^c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b Oxagen Ltd   (United Kingdom)

^c UNIVERSITY OF AUCKLAND   (New Zealand)

^d AUCKLAND CITY HOSPITAL   (New Zealand)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Bone mineral density; Idiopathic osteoporosis; Osteoporosis; Segregation analysis

Indexed keywords

ADULT; ARTICLE; BONE DENSITY; BONE MINERAL; FAMILY STUDY; FEMALE; GENE SEGREGATION; HUMAN; IDIOPATHIC DISEASE; LUMBAR SPINE; MAJOR CLINICAL STUDY; MALE; OSTEOPOROSIS; PEDIGREE ANALYSIS;

EID: 0034037504     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2000.15.6.1132     Document Type: Article

References (30)

1. Evans RA, Marel GM, Lancaster EK, Kos S, Evans M, Wong, SY 1988 Bone mass is low in relatives of osteoporotic patients. Ann Intern Med 109:870-873.
2. Seeman E, Hopper JL, Bach LA, Cooper ME, Parkinson E, McKay J, Jerums G 1989 Reduced bone mass in daughters of women with osteoporosis. N Engl J Med 320:554-558.
3. Jouanny P, Guillemin F, Kuntz C, Jeandel C, Pourel J 1995 Environmental and genetic factors affecting bone bass. Similarity of bone density among members of healthy families. Arthritis Rheum 38:61-67.
4. Christian JC, Yu P-L. Slemenda CW, Johnston CCJ 1989 Heritability of bone mass: A longitudinal study in aging male twins. Am J Hum Genet 44:429-433.
5. Kelly PJ, Nguyen T, Hopper J, Pocock N, Sambrook P, Eisman J 1993 Changes in axial bone density with age: A twin study. J Bone Miner Res 8:11-17.
6. 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.
7. Slemenda CW, Christian JC, Williams CJ, Norton JA, Johnston CC Jr. 1991 Genetic determinants of bone mass in adult women: A reevaluation of the twin model and the potential importance of gene interaction on heritability estimates. J Bone Miner Res 6:561-567.
8. Zmuda JM, Cauley JA, Ferrell RE 1999 Recent progress in understanding the genetic susceptibility to osteoporosis. Genet Epidemiol 16:356-367.
9. Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD 1998 First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q. Eur J Hum Genet 6:151-157.
10. Johnson ML, Gong G, Kimberling W, Recker SM, Kimmel DB, Recker RB 1997 Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13). Am J Hum Genet 60:1326-1332.
11. Koller DL, Rodriguez LA, Christian JC, Slemenda CW, Econs MJ, Hui SL, Morin P, Conneally PM, Joslyn G, Curran ME, Peacock M, Johnston, CC, Foroud T 1998 Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13. J Bone Miner Res 13:1903-1908.
12. Niu T, Chen C, Cordell H, Yang J, Wang B, Wang Z, Fang Z, Schork NJ, Rosen CJ, Xu X 1999 A genome-wide scan for loci linked to forearm bone mineral density. Hum Genet 104:226-233.
13. Shimizu M, Higuchi K, Bennett B, Xia C, Tsuboyama T, Kasai S, Chiba T, Fujisawa H, Kogishi K, Kitado H, Kimoto M, Takeda N, Matsushita M, Okumura H, Serikawa T, Nakamura T, Johnson TE, Hosokawa M 1999 Identification of peak bone mass QTL in a spontaneously osteoporolic mouse strain. Mamm Genome 10:81-87.
14. Livshits G, Pavlovsky O, Kobyliansky E 1996 Population biology of human aging: Segregation analysis of bone age characteristics. Hum Biol 68:540-554.
15. Livshits G, Karasik D, Pavlovsky O, Kobyliansky E 1999 Segregation analysis reveals a major gene effect in compact and cancellous bone mineral density in 2 populations. Hum Biol 71:155-172.
16. Gueguen R, Jouanny P, Guillemin F, Kuntz C, Pourel J, Siest G 1995 Segregation analysis and variance components analysis of bone mineral density in healthy families. J Bone Miner Res 10:2017-2022.
17. Nordin BEC, Need AG, Prince RL 1993 Osteoporosis. In: Nordin BEC, Need AG, Morris (eds.) Metabolic Bone and Stone Disease. Churchill Livingstone, Edinburgh, U.K., pp. 1-82.
18. Jackson WPU 1958 Osteoporosis of unknown cause in younger people. J Bone Joint Surg 408:420-421.
19. Smith R 1995 Idiopathic juvenile Osteoporosis: Experience of 21 patients. Br J Rheum 34:68-77.
20. Treves R, Harang H, Bertin P, Bonnet C, Arnaud M, Desproges-Gotteron R 1992 Adolescent osteoporosis disclosing familial osteopenia. Clin Rheum 11:558-561.
21. Angus RM, Sambrook PN, Pocock NA, Eisman JA 1989 A simple method of assessing calcium intake in Caucasian women. J Am Diet Assoc 89:209-214.
22. Lalouel JM, Rao DC, Morton NE, Elston RC 1983 A unified model for complex segregation analysis. Am J Hum Genet 35:816-826.
23. Morton NE, MacLean CJ 1974 Analysis of family resemblance. III. Complex segregation of quantitative traits. Am J Hum Genet 26:489-503.
24. Hasstedt S 1994 Pedigree Analysis Package. Department of Human Genetics, University of Utah, Salt Lake City, Utah, U.S.A.
25. Thompson EA, Cannings C 1980 Sampling schemes and ascertainment. In: Sing CF, Skolnick (eds.) The Genetic Analysis of Common Diseases: Applications to Predictive Factors in Coronary Heart Disease. Alan Liss, New York, NY, U.S.A.
26. Hasstedt SJ, Moll PP 1989 Estimation of genetic model parameters. Variables correlated with a quantitative phenotype exhibiting major locus inheritance. Genet Epidemiol 6:319-332.
27. Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar, R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML 1996 Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet 59:146-151.
28. Spotila LD, Caminis J, Devoto M, Shimoya K, Sereda L, Ott J, Whyte MP, Tenenhouse A, Prockop DJ 1996 Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance. Mol Med 2:313-324.
29. Spotila LD, Colige A, Sereda L, Constantinou-Deltas CD, Whyte MP, Riggs BL, Shaker JL, Spector TD, Hume E, Olsen N 1994 Mutation analysis of coding sequences for type 1 procollagen in individuals with low bone density. J Bone Miner Res 9:923-932.
30. Reed BY, Zerwekh J, Sakhaee K, Breslau NA, Gottschalk F, Pak CY 1995 Serum IGF 1 is low and correlates with osteoblastic surface in idiopathic osteoporosis. J Bone Miner Res 10:1218-1224.