메뉴 건너뛰기




Volumn 51, Issue 2, 2014, Pages 122-131

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

(68)  Oei, Ling a,b   Hsu, Yi Hsiang c,d,e   Styrkarsdottir, Unnur f   Eussen, Bert H a   de Klein, Annelies a   Peters, Marjolein J a,b   Halldorsson, Bjarni f,g   Liu, Ching Ti h   Alonso, Nerea i   Kaptoge, Stephen K j   Thorleifsson, Gudmar f   Hallmans, Göran k   Hocking, Lynne J l   Husted, Lise Bjerre m   Jameson, Karen A n   Kingdom, Marcin KrUnited o   Lewis, Joshua R p,q   Patel, Millan S r   Scollen, Serena j   Svensson, Olle k   more..


Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM AND BONE; COPY-NUMBER; GENETIC EPIDEMIOLOGY; GENOME-WIDE; OSTEOPOROSIS;

EID: 84894028523     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102064     Document Type: Article
Times cited : (27)

References (42)
  • 3
    • 9244252016 scopus 로고    scopus 로고
    • The molecular triad OPG/RANK/RANKL: involvement in the orchestration of pathophysiological bone remodeling
    • Theoleyre S, Wittrant Y, Tat SK, Fortun Y, Redini F, Heymann D. The molecular triad OPG/RANK/RANKL: involvement in the orchestration of pathophysiological bone remodeling. Cytokine Growth Factor Rev 2004;15:457-75.
    • (2004) Cytokine Growth Factor Rev , vol.15 , pp. 457-475
    • Theoleyre, S.1    Wittrant, Y.2    Tat, S.K.3    Fortun, Y.4    Redini, F.5    Heymann, D.6
  • 13
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions
    • Cook EH Jr, Scherer SW. Copy-number variations associated with neuropsychiatric conditions. Nature 2008;455:919-23.
    • (2008) Nature , vol.455 , pp. 919-923
    • Cook Jr., E.H.1    Scherer, S.W.2
  • 14
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia C. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008;455:237-41.
    • (2008) Nature , vol.455 , pp. 237-241
    • International Schizophrenia, C.1
  • 18
    • 85027951876 scopus 로고    scopus 로고
    • Homozygous deletion of the UGT2B17 gene is not associated with osteoporosis risk in elderly Caucasian women
    • Chew S, Mullin BH, Lewis JR, Spector TD, Prince RL, Wilson SG. Homozygous deletion of the UGT2B17 gene is not associated with osteoporosis risk in elderly Caucasian women. Osteoporos Int 2011;22:1981-6.
    • (2011) Osteoporos Int , vol.22 , pp. 1981-1986
    • Chew, S.1    Mullin, B.H.2    Lewis, J.R.3    Spector, T.D.4    Prince, R.L.5    Wilson, S.G.6
  • 22
    • 0025767240 scopus 로고
    • Determinants of disease and disability in the elderly: the Rotterdam Elderly Study
    • Hofman A, Grobbee DE, de Jong PT, van den Ouweland FA. Determinants of disease and disability in the elderly: the Rotterdam Elderly Study. Eur J Epidemiol 1991;7:403-22.
    • (1991) Eur J Epidemiol , vol.7 , pp. 403-422
    • Hofman, A.1    Grobbee, D.E.2    de Jong, P.T.3    van den Ouweland, F.A.4
  • 24
    • 82255162545 scopus 로고    scopus 로고
    • A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
    • Raychaudhuri S, Iartchouk O, Chin K. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet 2011;43:1232-6.
    • (2011) Nat Genet , vol.43 , pp. 1232-1236
    • Raychaudhuri, S.1    Iartchouk, O.2    Chin, K.3
  • 25
    • 80054728031 scopus 로고    scopus 로고
    • Comparison of statistical tests for disease association with rare variants
    • Basu S, Pan W. Comparison of statistical tests for disease association with rare variants. Genet Epidemiol 2011;35:606-19.
    • (2011) Genet Epidemiol , vol.35 , pp. 606-619
    • Basu, S.1    Pan, W.2
  • 28
    • 33344470090 scopus 로고    scopus 로고
    • PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
    • Krawczak M, Nikolaus S, von Eberstein H, Croucher PJ, El Mokhtari NE, Schreiber S. PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships. Community Genet 2006;9:55-61.
    • (2006) Community Genet , vol.9 , pp. 55-61
    • Krawczak, M.1    Nikolaus, S.2    von Eberstein, H.3    Croucher, P.J.4    El Mokhtari, N.E.5    Schreiber, S.6
  • 31
    • 0026802409 scopus 로고
    • Murine models of autoimmunity: T-cell and B-cell defects
    • Mountz JD, Edwards CK III. Murine models of autoimmunity: T-cell and B-cell defects. Curr Opin Rheumatol 1992;4:612-20.
    • (1992) Curr Opin Rheumatol , vol.4 , pp. 612-620
    • Mountz, J.D.1    Edwards III, C.K.2
  • 32
    • 44849133629 scopus 로고    scopus 로고
    • Osteoporosis among patients with type 1 and type 2 diabetes
    • Rakel A, Sheehy O, Rahme E, LeLorier J. Osteoporosis among patients with type 1 and type 2 diabetes. Diabetes Metab 2008;34:193-205.
    • (2008) Diabetes Metab , vol.34 , pp. 193-205
    • Rakel, A.1    Sheehy, O.2    Rahme, E.3    LeLorier, J.4
  • 33
    • 33847629923 scopus 로고    scopus 로고
    • Discrepancies in bone mineral density and fracture risk in patients with type 1 and type 2 diabetes-a meta-analysis
    • Vestergaard P. Discrepancies in bone mineral density and fracture risk in patients with type 1 and type 2 diabetes-a meta-analysis. Osteoporos Int 2007;18:427-44.
    • (2007) Osteoporos Int , vol.18 , pp. 427-444
    • Vestergaard, P.1
  • 39
    • 36348969388 scopus 로고    scopus 로고
    • The 6p subtelomere deletion syndrome
    • DeScipio C. The 6p subtelomere deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145C:377-82.
    • (2007) Am J Med Genet C Semin Med Genet , vol.145 C , pp. 377-382
    • DeScipio, C.1
  • 40
    • 26444460876 scopus 로고    scopus 로고
    • Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment
    • Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. BMC Med Genet 2004;5:17.
    • (2004) BMC Med Genet , vol.5 , pp. 17
    • Gould, D.B.1    Jaafar, M.S.2    Addison, M.K.3    Munier, F.4    Ritch, R.5    MacDonald, I.M.6    Walter, M.A.7
  • 41
    • 33748592858 scopus 로고    scopus 로고
    • Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome
    • Kannu P, Oei P, Slater HR, Khammy O, Aftimos S. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome. Am J Med Genet A 2006;140:1955-9.
    • (2006) Am J Med Genet A , vol.140 , pp. 1955-1959
    • Kannu, P.1    Oei, P.2    Slater, H.R.3    Khammy, O.4    Aftimos, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.