Genome-wide linkage screen of bone mineral density (BMD) in European pedigrees ascertained through a male relative with low BMD values: Evidence for quantitative trait loci on 17q21-23, 11q12-13, 13q12-14, and 22q11

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 10, 2008, Pages 3755-3762

  Kaufman, Jean Marc ^a   Ostertag, Agnès ^b   Saint Pierre, Aude ^b   Cohen Solal, Martine ^b   Boland, Anne ^c   Van Pottelbergh, Inge ^a,d   Toye, Kaatje ^a   De Vernejoul, Marie Christine ^b   Martinez, Maria ^b,e  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b INSERM   (France)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^d OLV HOSPITAL   (Belgium)

^e CHU PURPAN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; BONE DENSITY; CHROMOSOME 11Q; CHROMOSOME 13Q; CHROMOSOME 17Q; CHROMOSOME 22Q; CONTROLLED STUDY; EUROPE; FEMUR NECK; GENE LOCATION; GENETIC LINKAGE; HUMAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; MALE; OSTEOPOROSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RELATIVE; SEX DIFFERENCE;

EID: 53749098788     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0678     Document Type: Article

References (51)

1. Ralston SH 2005 Genetic determinants of osteoporosis. Curr Opin Rheumatol 17:475-479
2. Liu YJ, Shen H, Xiao P, Xiong DH, Li LH, Recker RR, Deng HW 2006 Molecular genetic studies of gene identification for osteoporosis: a 2004 update. J Bone Miner Res 21:1511-1535
3. Zmuda JM, Sheu YT, Moffett SP 2006 The search for human osteoporosis genes. J Musculoskelet Neuronal Interact 6:3-15
4. 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
5. 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
6. Koller DL, Econs MJ, Morin PA, Christian JC, Hui SL, Parry P, Curran ME, Rodriguez LA, Conneally PM, Joslyn G, Peacock M, Johnston CC, Foroud T 2000 Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J Clin Endocrinol Metab 85:3116-3120
7. Deng HW, Xu FH, Huang QY, Shen H, Deng H, Conway T, Liu YJ, Liu YZ, Li JL, Zhang HT, Davies KM, Recker RR 2002 A whole-genome linkage scan suggests several genomic regions potentially containing quantitative trait loci for osteoporosis. J Clin Endocrinol Metab 87:5151-5159
8. Karasik D, Myers RH, Cupples LA, Hannan MT, Gagnon DR, Herbert A, Kiel DP 2002 Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: the Framingham Study. J Bone Miner Res 17:1718-1727
9. Kammerer CM, Schneider JL, Cole SA, Hixson JE, Samollow PB, O'Connell JR, Perez R, Dyer TD, Almasy L, Blangero J, Bauer RL, Mitchell BD 2003 Quantitative trait loci on chromosomes 2p, 4p, and 13q influence bone mineral density of the forearm and hip in Mexican Americans. J Bone Miner Res 18:2245-2252
10. Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdardottir MS, Bagger Y, Christiansen C, Reynisdottir I, Grant SF, Jonasson K, Frigge ML, Gulcher JR, Sigurdsson G, Stefansson K 2003 Linkage of osteoporosis to chromosome 20p12 and association to BMP2. PLoS Biol 1:E69
11. Wilson SG, Reed PW, Bansal A, Chiano M, Lindersson M, Langdown M, Prince RL, Thompson D, Thompson E, Bailey M, Kleyn PW, Sambrook P, Shi MM, Spector TD 2003 Comparison of genome screens for two independent cohorts provides replication of suggestive linkage of bone mineral density to 3p21 and 1p36. Am J Hum Genet 72:144-155
12. Shen H, Zhang YY, Long JR, Xu FH, Liu YZ, Xiao P, Zhao LJ, Xiong DH, Liu YJ, Dvornyk V, Rocha-Sanchez S, Liu PY, Li JL, Conway T, Davies KM, Recker RR, Deng HW 2004 A genome-wide linkage scan for bone mineral density in an extended sample: evidence for linkage on 11q23 and Xq27. J Med Genet 41:743-751
13. Ralston SH, Galwey N, MacKay I, Albagha OM, Cardon L, Compston JE, Cooper C, Duncan E, Keen R, Langdahl B, McLellan A, O'Riordan J, Pols HA, Reid DM, Uitterlinden AG, Wass J, Bennett ST 2005 Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study. Hum Mol Genet 14:943-951
14. Cohen-Solal ME, Baudoin C, Omouri M, Kuntz D, De Vernejoul MC 1998 Bone mass in middle-aged osteoporotic men and their relatives: familial effect. J Bone Miner Res 13:1909-1914
15. Baudoin C, Cohen-Solal ME, Beaudreuil J, De Vernejoul MC 2002 Genetic and environmental factors affect bone density variances of families of men and women with osteoporosis. J Clin Endocrinol Metab 87:2053-2059
16. Van Pottelbergh I, Goemaere S, Zmierczak H, De Bacquer D, Kaufman JM 2003 Deficient acquisition of bone during maturation underlies idiopathic osteoporosis in men: evidence from a three-generation family study. J Bone Miner Res 18:303-311
17. Pelat C, Van Pottelbergh I, Cohen-Solal M, Ostertag A, Kaufman JM, Martinez M, de Vernejoul MC 2007 Complex segregation analysis accounting for GxE of bone mineral density in European pedigrees selected through a male proband with low BMD. Ann Hum Genet 71(Pt 1):29-42
18. Blangero J, Williams JT, Almasy L 2000 Robust LOD scores for variance component-based linkage analysis. Genet Epidemiol 19(Suppl 1):S8-S14
19. O'Connell JR, Weeks DE 1998 PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
20. O'Connell JR, Weeks DE 1995 The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 11:402-408
21. Amos CI 1994 Robust variance-components approach for assessing genetic linkage in pedigrees. Am J Hum Genet 54:535-543
22. Almasy L, Blangero J 1998 Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62:1198-1211
23. Heath SC 1997 Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet 61:748-760
24. Boehnke M, Lange K 1984 Ascertainment and goodness of fit of variance component models for pedigree data. Prog Clin Biol Res 147:173-192
25. Lander E, Kruglyak L 1995 Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247
26. Deng HW, Shen H, Xu FH, Deng H, 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 A 119:121-131
27. Koller DL, Liu G, Econs MJ, Hui SL, Morin PA, Joslyn G, Rodriguez LA, Conneally PM, Christian JC, Johnston Jr CC, Foroud T, Peacock M 2001 Genome screen for quantitative trait loci underlying normal variation in femoral structure. J Bone Miner Res 16:985-991
28. Mann V, Ralston SH 2003 Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone 32:711-717
29. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH 1996 Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type Iα1 gene. Nat Genet 14:203-205
30. Van Pottelbergh I, Goemaere S, Nuytinck L, De Paepe A, Kaufman JM 2001 Association of the type I collagen αSp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men. Osteoporos Int 12:895-901
31. Balemans W, Foernzler D, Parsons C, Ebeling M, Thompson A, Reid DM, Lindpaintner K, Ralston SH, Van Hul W 2002 Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms. Bone 31:515-519
32. Uitterlinden AG, Arp PP, Paeper BW, Charmley P, Proll S, Rivadeneira F, Fang Y, van Meurs JB, Britschgi TB, Latham JA, Schatzman RC, Pols HA, Brunkow ME 2004 Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. Am J Hum Genet 75:1032-1045
33. 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
34. Wynne F, Drummond FJ, Daly M, Brown M, Shanahan F, Molloy MG, Quane KA 2003 Suggestive linkage of 2p22-25 and 11q12-13 with low bone mineral density at the lumbar spine in the Irish population. Calcif Tissue Int 72:651-658
35. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, et al. 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107:513-523
36. Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML 2002 A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 70:11-19
37. Urano T, Shiraki M, Ezura Y, Fujita M, Sekine E, Hoshino S, Hosoi T, Orimo H, Emi M, Ouchi Y, Inoue S 2004 Association of a single-nucleotide polymorphism in low-density lipoprotein receptor-related protein 5 gene with bone mineral density. J Bone Miner Metab 22:341-345
38. Ferrari SL, Deutsch S, Choudhury U, Chevalley T, Bonjour JP, Dermitzakis ET, Rizzoli R, Antonarakis SE 2004 Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites. Am J Hum Genet 74:866-875
39. Ferrari SL, Deutsch S, Baudoin C, Cohen-Solal M, Ostertag A, Antonarakis SE, Rizzoli R, de Vernejoul MC 2005 LRP5 gene polymorphisms and idiopathic osteoporosis in men. Bone 37:770-775
40. Zhang ZL, Qin YJ, He JW, Huang QR, Li M, Hu YQ, Liu YJ 2005 Association of polymorphisms in low-density lipoprotein receptor-related protein 5 gene with bone mineral density in postmenopausal Chinese women. Acta Pharmacol Sin 26:1111-1116
41. Xiong DH, Lei SF, Yang F, Wang L, Peng YM, Wang W, Recker RR, Deng HW 2007 Low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms are associated with bone mass in both Chinese and whites. J Bone Miner Res 22:385-393
42. Koller DL, Ichikawa S, Johnson ML, Lai D, Xuei X, Edenberg HJ, Conneally PM, Hui SL, Johnston CC, Peacock M, Foroud T, Econs MJ 2005 Contribution of the LRP5 gene to normal variation in peak BMD in women. J Bone Miner Res 20:75-80
43. Crabbe P, Balemans W, Willaert A, van Pottelbergh I, Cleiren E, Coucke PJ, Ai M, Goemaere S, van Hul W, de Paepe A, Kaufman JM 2005 Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men. J Bone Miner Res 20:1951-1959
44. Hsu YH, Xu X, Terwedow HA, Niu T, Hong X, Wu D, Wang L, Brain JD, Bouxsein ML, Cummings SR, Rosen CJ 2007 Large-scale genome-wide linkage analysis for loci linked to BMD at different skeletal sites in extreme selected sibships. J Bone Miner Res 22:184-194
45. Mencej S, Prezelj J, Kocijancic A, Ostanek B, Marc J 2006 Association of TNFSF11 gene promoter polymorphisms with bone mineral density in postmenopausal women. Maturitas 55:219-226
46. Hsu YH, Niu T, Terwedow HA, Xu X, Feng Y, Li Z, Brain JD, Rosen CJ, Laird N 2006 Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men. Hum Genet 118:568-577
47. Xiong DH, Shen H, Zhao LJ, Xiao P, Yang TL, Guo Y, Wang W, Guo YF, Liu YJ, Recker RR, Deng HW 2006 Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction. J Bone Miner Res 21:1678-1695
48. Devoto M, Spotila LD, Stabley DL, Wharton GN, Rydbeck H, Korkko J, Kosich R, Prockop D, Tenenhouse A, Sol-Church K 2005 Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density. Eur J Hum Genet 13:781-788
49. Omasu F, Ezura Y, Kajita M, Ishida R, Kodaira M, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Orimo H, Emi M 2003 Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women. J Hum Genet 48:342-345
50. Streeten EA, McBride DJ, Pollin TI, Ryan K, Shapiro J, Ott S, Mitchell BD, Shuldiner AR, O'Connell JR 2006 Quantitative trait loci for BMD identified by autosome-wide linkage scan to chromosomes 7q and 21q in men from the Amish Family Osteoporosis Study. J Bone Miner Res 21:1433-1442
51. Semenov MV, He X 2006 LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST. J Biol Chem 281:38276-38284