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REFERENCES

  • 1
    Duncan E, Cardon L, Sinsheimer J, Wass J, Brown M 2003 Site and gender specificity of inheritance of bone mineral density. J Bone Miner Res 18: 15311538.
  • 2
    Pocock N, Eisman J, Hopper J, Yeates M, Sambrook P, Eberl S 1987 Genetic determinants of bone mass in adults. A twin study. J Clin Invest 80: 706710.
  • 3
    Arden N, Baker J, Hogg C, Baan K, Spector T 1996 The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: A study of postmenopausal twins. J Bone Miner Res 11: 530534.
  • 4
    Flicker L, Hopper J, Rodgers L, Kaymakci B, Green R, Wark J 1995 Bone density determinants in elderly women: A twin study. J Bone Miner Res 10: 16071613.
  • 5
    Guegen R, Jouanny P, Guillemin F, Kuntx C, Pourel J, Siest G 1995 Segregation analysis and variance components analysis of bone mineral density in healthy families. J Bone Miner Res 10: 20172022.
  • 6
    Brown M, Eisman J 2000 The genetics of osteoporosis: Future diagnostic possibilities. Clin Lab Med Osteoporos Metab Bone Dis 20: 527547.
  • 7
    Deng H, Livshits G, Yakovenko K, Xu F, Conway T, Davies K, Deng H, Recker R 2002 Evidence for a major gene for bone mineral density/content in human pedigrees identified via probands with extreme bone mineral density. Ann Hum Genet 66: 6174.
  • 8
    Cardon L, Garner C, Bennett S, Mackay I, Edwards R, Cornish J, Hegde M, Murray M, Reid I, Cundy T 2000 Evidence for a major gene for bone mineral density in idiopathic osteoporotic families. J Bone Miner Res 15: 11321137.
  • 9
    Koller D, Rodriguez L, Christian J, Slemenda C, Econs M, Hui S, Morin P, Conneally P, Joslyn G, Curran M, Peacock M, Johnston C, Foroud T 1998 Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12–13. J Bone Miner Res 13: 19031908.
  • 10
    Johnson M, Gong G, Kimberling W, Recker S, Kimmel D, Recker R 1997 Linkage of a gene causing high bone mass to human chromosome 11 (11q12–13). Am J Hum Genet 60: 13261332.
  • 11
    Heaney C, Shalev H, Elbedour K, Carmi R, Staack J, Sheffield V, Beier D 1998 Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. Hum Mol Genet 7: 14071410.
  • 12
    van Hul E, Gram J, Bollerslev J, van Wesenbeeck L, Mathysen D, Andersen P, Vanhoenacker F, van Hul W 2002 Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12–13. J Bone Miner Res 17: 11111117.
  • 13
    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 H, Jans A, Boles R, Adkins W, van den Boogaard M, Olsen B, Warman M 1996 Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12–13. Am J Hum Genet 59: 146151.
  • 14
    Boyden L, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick M, Wu D, Insogna K, Lifton R 2002 High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 346: 15131521.
  • 15
    Little R, Carulli J, Del Mastro R, Dupuis J, Osborne M, Folz C, Manning S, Swain P, Zhao S-C, Eustace B, Lappe M, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald M, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen K, Anisowicz A, Morales A, Lomedico P, Recker S, van Eerdewegh P, Recker R, Johnson M 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: 1119.
  • 16
    Gong Y, Slee R, Fukai N, Rawadi G, Roman-Roman S, Reginato A, Wang H, Cundy T, Group EAOTO-PSC 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107: 513523.
  • 17
    Ross P, Hall L, Smirnov I, Haff L 1998 High level multiplex genotyping by MALDI-TOF mass spectrometry. Nat Biotechnol 16: 13471351.
  • 18
    Griffin T, Smith L 2000 Single-nucleotide polymorphism analysis by MALDI-TOF mass spectrometry. Trends Biotechnol 18: 7784.
  • 19
    Abecasis G, Cherny S, Cookson W, Cardon L 2002 Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30: 97101.
  • 20
    Almasy L, Blangero J 1998 Multipoint quantitative trait linkage analysis in general pedigrees. Am J Hum Genet 62: 11981211.
  • 21
    O'Connell J, Weeks D 1995 The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 11: 402408.
  • 22
    Abecasis G, Cardon L, Cookson W 2000 A general test of association for quantitative traits in nuclear families. Am J Hum Genet 66: 279292.
  • 23
    Abecasis G, Cookson W 2000 GOLD-graphical overview of linkage disequilibrium. Bioinformatics 16: 182183.
  • 24
    Sobel E, Lange K 1996 Descent graphs in pedigree analysis: Applications to haplotyping, location scores and marker-sharing statistics. Am J Hum Genet 58: 13231337.
  • 25
    Stephens M, Smith N, Donnelly P 2001 A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68: 978989.
  • 26
    Lathrop G 1983 Estimating genotype relative risks. Tissue Antigens 22: 160166.
  • 27
    Koller D, Econs M, Morin P, Christian J, Hui S, Parry P, Johnston C, Foroud T 2000 Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J Clin Endocrinol Metab 85: 31163120.
  • 28
    Deng H, Xu F, Conway T, Deng X, Li J, Davies K, Deng H, Johnson M, Recker R 2001 Is population bone mineral density variation linked to the marker D11S987 on chromosome 11q12–13? J Clin Endocrinol Metab 86: 37353741.
  • 29
    Hey P, Twells R, Phillips M, Nakagawa Y, Brown S, Kawaguchi Y, Cox R, Xie G, Dugan V, Hammond H, Metzker M, Todd J, Hess J 1998 Cloning of a novel member of the low-density lipoprotein receptor family. Gene 216: 103111.
  • 30
    Nott A, Meislin S, Moore M 2003 A quantitative analysis of intron effects on mammalian gene expression. RNA 9: 607617.
  • 31
    Majewski J, Ott J 2002 Distribution and characterisation of regulatory elements in the human genome. Genome Res 12: 18271836.
  • 32
    Choudhoury U, de Vernejoul M, Deutsch S, Chevalley T, Bonjour J, Antonarakis S, Rizzoli R, Ferrari S 2003 Genetic variation in LDL receptor-related protein 5 (LRP5) is a major risk factor for male osteoporosis: Results from cross-sectional, longitudinal and case-control studies. J Bone Miner Res 18: S69.
  • 33
    Ferrari S, Deutsch S, Choudhoury U, Chevalley T, Bonjour J-P, Warman M, Rizzoli R, Antonarakis S 2003 Contribution of LDL receptor-related protein 5 gene (LRP5) to peak bone mass, vertebral size and height among Caucasians. Second International Workshop on the Genetics of Bone Metabolism and Disease. Davos, Switzerland, February 15–18, 2003, p. OCO9.
  • 34
    van Meurs J, Hugens W, Arp P, Bartels C, Ai M, Hofman A, Warman M, Pols H, Uitterlinden A 2003 Association of LRP5 polymorphisms with bone mineral density in elderly men and women. Calcif Tissue Int 72: 327.
  • 35
    Grigoriadis A, Wang Z, Wagner E 1995 Fos and bone cell development: Lessons from a nuclear oncogene. Trends Genet 11: 436441.
  • 36
    Matsuo K, Owens J, Tonko M, Elliot C, Chambers T, Wagner E 2000 Fos11 is a transcriptional target of c-Fos during osteoclast differentiation. Nat Genet 24: 184187.
  • 37
    Sobacchi C, Vezzoni P, Reid D, McGuigan F, Frattini A, Mirolo M, Albhaga O, Musio A, Villa A, Ralston S 2004 Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. Calcif Tissue Int 74: 3541.
  • 38
    Twells R, Mein C, Phillips M, Hess J, Veijola R, Gilbey M, Bright M, Metzker M, Lie B, Kingsnorth A, Gregory E, Nakagawa Y, Snook H, Wang W, Masters J, Johnson G, Eaves I, Howson J, Clayton D, Cordell H, Nutland S, Rance H, Carr P, Todd J 2003 Haplotype structure, LD blocks and uneven recombination within the LRP5 gene. Genome Res 13: 845855.