Evidence for a major gene underlying bone size variation in the Chinese

American Journal of Human Biology

Volumn 16, Issue 1, 2004, Pages 68-77

  Liu, Peng Yuan ^a,c   Qin, Yue Juan ^b   Recker, Robert R ^c   Deng, Hong Wen ^a,c  

^a HUNAN NORMAL UNIVERSITY   (China)

^b SHANGHAI JIAO TONG UNIVERSITY AFFILIATED SIXTH PEOPLE S HOSPITAL   (China)

^c CREIGHTON UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; BONE DENSITY; BONE MASS; BONE MINERAL; BONE STRENGTH; CHINESE; CODOMINANCE; CONTROLLED STUDY; CORRELATION ANALYSIS; FAMILY; FEMALE; FRAGILITY FRACTURE; GENOTYPE; HERITABILITY; HIP; HUMAN; MAJOR GENE; MALE; MULTIFACTORIAL INHERITANCE; OSTEOPOROSIS; PRIORITY JOURNAL; PUBLIC HEALTH; SAMPLE SIZE; SEGREGATION ANALYSIS; SEX DIFFERENCE; SPINE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DENSITOMETRY, X-RAY; FEMALE; GENOTYPE; HIP; HUMANS; MODELS, GENETIC; NUCLEAR FAMILY; OSTEOPOROSIS; QUANTITATIVE TRAIT, HERITABLE; RANDOM ALLOCATION; REFERENCE VALUES; RISK FACTORS; SAMPLING STUDIES; SPINE;

EID: 0345832223     PISSN: 10420533     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajhb.10240     Document Type: Article

References (51)

1. Akaike H. 1974. A new look at the statistical model identification. IEEE Trans Automatic Control AC-19:716-723.
2. Akhter MP, Cullen DM, Pederson EA, Kimmel DB, Recker RR. 1998. Bone response to in vivo mechanic loading in two breeds of mice. Calcif Tissue Int 63: 442-449.
3. Allison DB, Heo M, Kaplan N, Martin ER. 1999. Sibling-based tests of linkage and association for quantitative traits. Am J Hum Genet 64:1754-1763.
4. Bouxsein ML, Myers ER, Hayes WC. 1996. Biomechanics of age-related fractures. In: Marcus R, Feldman D, Kelsey J, editors. Osteoporosis. San Diego: Academic Press. p 373-393.
5. Cardon LR, Garner C, Bennett ST, Mackay IJ, Edwards RM, Cornish J, Hegde M, Murray MA, Reid IR, Cundy T. 2000. Evidence for a major gene for bone mineral density in idiopathic osteoporotic families. J Bone Miner Res 15:1132-1137.
6. Cauley JA, Gutai JP, Kuller LH, Scott J, Nevitt MC. 1994 Black-white differences in serum sex hormones and bone mineral density. Am J Epidemiol 139:1035-1046.
7. Cordey J, Schneider M, Belendez C, Ziegler WJ, Rahn BA, Perren SM. 1992. Effect of bone size, not density, on the stiffness of the proximal part of normal and osteoporotic human femora. J Bone Miner Res 7(Suppl 2): S437-444.
8. Cummings SR, Melton LJ. 2002. Epidemiology and outcomes of osteoporotic fractures. Lancet 359:1761-1767.
9. Cummings SR, Kelsey JL, Nevitt MC, O'Dowd KJ. 1985. Epidemiology of osteoporosis and osteoporotic fractures. Epidemiol Rev 7:178-208.
10. Deng HW, Li J, Recker RR. 2001. The effect of polygenes on Xiong's transmission disequilibrium test of a QTL in nuclear families with multiple children. Genet Epidemiol 21:243-265.
11. Deng HW, Deng XT, Conway T, Xu FH, Heaney R, Recker RR. 2002a. Determination of bone size of the hip, spine, and wrist in human pedigrees by genetic and life-style factors. J Clin Densitom 5:45-56.
12. Deng HW, Levshits G, Yakovenko K, Xu FH, Conway T, Davies KM, Deng H, Recker RR. 2002b. Evidence for a major gene for bone mineral density/content in human pedigrees idenfied via probands with extreme bone mineral density. Ann Hum Genet 66:61-74.
13. Deng HW, Shen H, Xu FH, Deng HY, Conway T, Zhang HT, Recker RR. 2002c. Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density. J Bone Miner Res 17:678-686.
14. Deng, HW, Xu FH, Davies KM, Heaney RR, Deng HY, Recker RR. 2002d. Differences in bone mineral density, bone mineral content, and bone areal size in fracturing and non-fracturing women, and their interrelationships at the spine and hip. J Bone Miner Metab 20:358-366.
15. Deng HW, Xu FH, Huang QY, Shen H, Deng H, Conway T, Liu YJ, Liu YZ, Li JL, Zhang HT, Davies KM, Recker RR. 2002e. A whole-genome linkage scan suggests several genomic regions potentially containing quantitative trait loci for osteoporosis. J. Clin. Endocrinol. Metab. 87:5151-5159.
16. Deng HW, Shen H, Xu FH, Deng HY, Conway T, Liu YJ, Liu YZ, Li JL, Huang QY, Davies KM, Recker RR. 2003. Several genomic regions potentially containing QTLs for bone size variation were identified in a whole-genome linkage scan. Am J Med Genet 119A:121-131.
17. DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, Dawson DM, Sudarsky L, Corwin L, Coutinho P, MacLeod P. 1996. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet 59:119-127.
18. Duan Y, Parfitt AM, Seeman E. 1999. Vertebral bone mass, size, and volumetric density in women with spinal fractures. J Bone Miner Res 14:1796-1802
19. Ferrari S, Rizzoli R, Slosman D, Bonjour JP. 1998. Familial resemblance for bone mineral mass is expressed before puberty. J Clin Endocrinol Metab 83:358-361.
20. Gilsanz V, Boechat MI, Gilsanz R, Loro ML, Roe TF, Goodman WG. 1994. Gender differences in vertebral sizes in adults: biomechanical implications. Radiology 190:678-682.
21. Gilsanz V, Loro ML, Roe TF, Sayre J, Gilsanz R, Schulz EE. 1995. Vertebral Size in elderly women with osteoporosis. J Clin Invest 95:2332-2337.
22. Ginsburg E, Livshits G, Yakovenko K, Kobyliansky E. 1998. Major gene control of human body height, weight and BMI in five ethnically different populations. Ann Hum Genet 62:307-322.
23. Go RCP, Elston RC, Kaplan EB. 1978. Efficiency and robustness of pedigree segregation analysis. Am J Hum Genet 30:28-37.
24. Gueguen R, Jouanny P, Guillemin F, Kuntz C, Pourel J, Siest G. 1995. Segregation analysis and variance components analysis in bone mineral density in healthy families. J Bone Miner Res 10:2017-2022.
25. Hayes WC, Myers ER, Robinovitch SN, Van Den Kroonenberg A, Courtney AC, McMahon TA. 1996. Etiology and prevention of age-related hip fractures. Bone 18(1 Suppl):77s-86s.
26. Jarvik CP. 1998. Complex segregation analyses: use and limitations. Am J Hum Genet 63:942-946.
27. Kanis JA, McCloskey EV. 1998. Risk factors in osteoporosis. Maturitas 30:229-233.
28. Karasik D, Ginsburg E, Livshits G, Pavlovsky O, Kobyliansky E. 2000. Evidence of major gene control of cortical bone loss in humans. Genet Epidemiol 19:410-421.
29. Klein RF, Carlos AS, Vartanian KA, Chambers VK, Turner RJ, Phillips TJ, Belknap JK, Orwoll ES. 2001. Confirmation and fine mapping of chromosomal regions influencing peak bone mass in mice. J Bone Miner Res 16:1953-1961.
30. Klein RF, Turner RJ, Skinner LD, Vartanian KA, Serang M, Carlos AS, Shea M, Belknap JK, Orwoll ES. 2002. Mapping quantitative trait loci that influence femoral cross-sectional area in mice. J Bone Miner Metab 17:1752-1760.
31. Koller DL, Econs MJ, Rodriguez LA, Christian JC, Hui SL, Morin P, Conneally PM, Joslyn G, Peacock M, Johnston CC. 2000. Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J Clin Endocrinol Metab 85: 3116-3120.
32. Koller DL, Liu G, Econs MJ, Morin P, Christian JC, Hui SL, Rodriguez LA, Conneally PM, Joslyn G, Johnston CC, Foroud T, Peacock M. 2001. Genome screen for QTLs contributing to normal variation in femoral structure. J Bone Miner Res 16:985-991.
33. Langdahl BL, Ralston SH, Grant SFA, Eriksen EF. 1998. A Sp1 binding site polymorphism in the ColIA1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 13:1384-1389.
34. Liu ZH, Piao JH, Pang LP, Qing X, Nan S, Pan ZA, Guo YC, Wang XH, Li FF, Liu JP, Cheng XG. 2002. The diagnosis criteria for primary osteoporosis and the incidence of osteoporosis in China. J Bone Miner Metab 20:181-190.
35. Liu PY, Qin YJ, Zhou Q, Robert RR, Deng HW. 2003. Complex segregation analyses of bone mineral density in Chinese. Ann Hum Genet (in press).
36. Livshits G, Pavlovsky O, Kobyliansky E. 1996. Population biology of human aging: segregation analysis of bone age characteristics. Hum Biol 68:540-554.
37. Livshits G, Karasik D, Pavlovsky O, Kobyliansky E. 1999. Segregation analysis reveals a major gene effect in compact and cancellous bone mineral density in two populations. Hum Biol 71:155-172.
38. Livshits G, Karasik D, Kobyliansky E. 2002. Complex segregation analysis of the radiographic phalanges bone mineral density and their age-related changes. J Bone Miner Res 17:152-161.
39. Mazess RB, Barden H, Mautalen C, Vega E. 1994. Normalization of spine densitometry. J Bone Miner Res 9:541-548.
40. McCreadie BR, Goldstein SA. 2000. Biomechanics of fracture: is bone mineral density sufficient to assess risk? J Bone Miner Res 15:2305-2308.
41. Melton LJ, Kan SH, Frye MA, Wahner HW, O'Fallon WM, Riggs BL. 1989. Epidemiology of vertebral fractures in women. Am J Epidemiol 129:1000-1011.
42. Moller M, Horsman A, Harvald B, Hauge M, Henningsen K, Nordin BE. 1978. Metacarpal morphometry in monozygotic dizygotic elderly twins. Calcif Tissue Res 25:197-201.
43. Need AG, Horowitz M, Stiliano A, Scopacasa F, Morris HA, Chatterton BE. 1996. Vitamin D receptor genotypes are related to bone size and bone density in men. Eur J Clin Invest 26:793-796.
44. Nevitt MC, Cummings SR. 1993. Type of fall and risk of hip and wrist fractures: The study of osteoporotic fractures. J Am Geriatr Soc 41:1226-1234.
45. Orwoll ES, Belknap JK, Klein RF. 2001. Gender specificity in the genetic determinants of peak bone mass. J Bone Miner Res 16:1962-1971.
46. Puustjarvi K, Nieminen J, Rasanen T, Hyttinen M, Helminen HJ, Kroger H, Huuskonen J, Alhava E, Kovanen V. 1999. Do more highly organized collagen fibrils increase bone mechanical strength in loss of mineral density after one-year running training? J Bone Miner Res 14:321-329.
47. Rice T, Despr'es JP, Daw EW, Gagnon J, Borecki IB, P'erusse L, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. 1997. Familial resemblance for abdominal visceral fat: the HERITAGE family study. Int J Obes Relat Metab Disord 21:1024-1031.
48. S.A.G.E. 2001. Statistical analysis for genetic epidemiology, release 4.1. Computer program package available from the Department of Epidemiology and Biostatistics, Rammelkamp Center for Education and Research, MetroHealth Campus, Case Western Reserve University, Cleveland, OH.
49. Seeman E. 1999. The structural basis of bone fragility in men. Bone 25:143-147.
50. Vega E, Ghiringhelli G, Mautalen C, Rey VG, Scaglia H, Zylberstein C. 1998. Bone mineral density and bone size in men with primary osteoporosis and vertebral fractures. Calcif Tissue Int 62:465-469.
51. Weichetova M, Stepan JJ, Michalska D, Haas T, Pol HAP, Uitterlinden AG. 2000. COLIA1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures. Bone 26:287-290.