SEARCH

SEARCH BY CITATION

REFERENCES

  • 1
    Melton LJ III, Atkinson EJ, O'Fallon WM, Wahner HW, Riggs BL 1993 Long-term fracture prediction by bone mineral assessed at different skeletal sites. J Bone Miner Res 8: 12271233.
  • 2
    Marshall D, Johnell O, Wedel H 1996 Meta-analysis of how well measures of bone mineral density predict occurrence of osteoporotic fractures. BMJ 312: 12541259.
  • 3
    Peacock M, Turner CH, Econs MJ, Foroud T 2002 Genetics of osteoporosis. Endocr Rev 23: 303326.
  • 4
    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: 13261332.
  • 5
    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: 1119.
  • 6
    Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP 2002 High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 346: 15131521.
  • 7
    Van Hul E, Gram J, Bollerslev J, Van Wesenbeeck L, Mathysen D, Andersen PE, 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.
  • 8
    Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 72: 763771.
  • 9
    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, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107: 513523.
  • 10
    Lev D, Binson I, Foldes AJ, Watemberg N, Lerman-Sagie T 2003 Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. Isr Med Assoc J 5: 419421.
  • 11
    Kato M, Patel MS, Levasseur R, Lobov I, Chang BH, Glass DA, Hartmann C, Li L, Hwang TH, Brayton CF, Lang RA, Karsenty G, Chan L 2002 Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. J Cell Biol 157: 303314.
  • 12
    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: 19031908.
  • 13
    Carn G, Koller DL, Peacock M, Hui SL, Evans WE, Conneally PM, Johnston CC Jr, Foroud T, Econs MJ 2002 Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12–13. J Clin Endocrinol Metab 87: 38193824.
  • 14
    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.
  • 15
    Abecasis GR, Cookson WO 2000 GOLD-graphical overview of linkage disequilibrium. Bioinformatics 16: 182183.
  • 16
    Abecasis GR, Cardon LR, Cookson WO 2000 A general test of association for quantitative traits in nuclear families. Am J Hum Genet 66: 279292.
  • 17
    Spielman RS, Ewens WJ 1996 The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 59: 983989.
  • 18
    Twells RC, Mein CA, Phillips MS, Hess JF, Veijola R, Gilbey M, Bright M, Metzker M, Lie BA, Kingsnorth A, Gregory E, Nakagawa Y, Snook H, Wang WY, Masters J, Johnson G, Eaves I, Howson JM, Clayton D, Cordell HJ, Nutland S, Rance H, Carr P, Todd JA 2003 Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res 13: 845855.
  • 19
    Phillips MS, Lawrence R, Sachidanandam R, Morris AP, Balding DJ, Donaldson MA, Studebaker JF, Ankener WM, Alfisi SV, Kuo FS, Camisa AL, Pazorov V, Scott KE, Carey BJ, Faith J, Katari G, Bhatti HA, Cyr JM, Derohannessian V, Elosua C, Forman AM, Grecco NM, Hock CR, Kuebler JM, Lathrop JA, Mockler MA, Nachtman EP, Restine SL, Varde SA, Hozza MJ, Gelfand CA, Broxholme J, Abecasis GR, Boyce-Jacino MT, Cardon LR 2003 Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat Genet 33: 382387.
  • 20
    Schork NJ, Fallin D, Thiel B, Xu X, Broeckel U, Jacob HJ, Cohen D 2001 The future of genetic case-control studies. Adv Genet 42: 191212.
  • 21
    Wacholder S, Rothman N, Caporaso N 2002 Counterpoint: Bias from population stratification is not a major threat to the validity of conclusions from epidemiological studies of common polymorphisms and cancer. Cancer Epidemiol Biomarkers Prev 11: 513520.
  • 22
    Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K 2004 LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet 49: 8086.
  • 23
    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: 866875.