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Volumn 3, Issue 2, 2011, Pages 113-123

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

Author keywords

Autism; Genome wide association; IQ; Linkage analysis; PPL; PPLD

Indexed keywords


EID: 79958065866     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1007/s11689-011-9072-9     Document Type: Article
Times cited : (20)

References (40)
  • 1
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002; 30(1): 97-101.
    • (2002) Nat Genet , vol.30 , Issue.1 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 2
    • 0035063790 scopus 로고    scopus 로고
    • Autistic disorder versus other pervasive developmental disorders in young children: same or different?
    • Allen DA, Steinberg M, Dunn M, Fein D, Feinstein C, Waterhouse L, et al. Autistic disorder versus other pervasive developmental disorders in young children: same or different? Eur Child Adolesc Psychiatry. 2001; 10(1): 67-78.
    • (2001) Eur Child Adolesc Psychiatry , vol.10 , Issue.1 , pp. 67-78
    • Allen, D.A.1    Steinberg, M.2    Dunn, M.3    Fein, D.4    Feinstein, C.5    Waterhouse, L.6
  • 3
    • 51049093585 scopus 로고    scopus 로고
    • Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis
    • Amiet C, Gourfinkel-An I, Bouzamondo A, Tordjman S, Baulac M, Lechat P, et al. Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis. Biol Psychiatry. 2008; 64(7): 577-82.
    • (2008) Biol Psychiatry , vol.64 , Issue.7 , pp. 577-582
    • Amiet, C.1    Gourfinkel-An, I.2    Bouzamondo, A.3    Tordjman, S.4    Baulac, M.5    Lechat, P.6
  • 4
    • 77957735529 scopus 로고    scopus 로고
    • A genome-wide scan for common alleles affecting risk for autism
    • Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010; 19(20): 4072-82.
    • (2010) Hum Mol Genet , vol.19 , Issue.20 , pp. 4072-4082
    • Anney, R.1    Klei, L.2    Pinto, D.3    Regan, R.4    Conroy, J.5    Magalhaes, T.R.6
  • 5
    • 67349083547 scopus 로고    scopus 로고
    • Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
    • Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, van de Putte DE Fransen, Anderlid BM, et al. Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet. 2009; 52(2-3): 77-87.
    • (2009) Eur J Med Genet , vol.52 , Issue.2-3 , pp. 77-87
    • Bijlsma, E.K.1    Gijsbers, A.C.2    Schuurs-Hoeijmakers, J.H.3    van Haeringen, A.4    van de Putte, D.E.F.5    Anderlid, B.M.6
  • 6
    • 48949118888 scopus 로고    scopus 로고
    • Using disease symptoms to improve detection of linkage under genetic heterogeneity
    • Bureau A, Labbe A, Croteau J, Merette C. Using disease symptoms to improve detection of linkage under genetic heterogeneity. Genet Epidemiol. 2008; 32(5): 476-86.
    • (2008) Genet Epidemiol , vol.32 , Issue.5 , pp. 476-486
    • Bureau, A.1    Labbe, A.2    Croteau, J.3    Merette, C.4
  • 7
    • 0016639309 scopus 로고
    • The prior probability of autosomal linkage
    • Elston RC, Lange K. The prior probability of autosomal linkage. Ann Hum Genet. 1975; 38(3): 341-50.
    • (1975) Ann Hum Genet , vol.38 , Issue.3 , pp. 341-350
    • Elston, R.C.1    Lange, K.2
  • 8
    • 53249088014 scopus 로고    scopus 로고
    • Practical considerations for dividing data into subsets prior to PPL analysis
    • PMID: 18612207
    • Govil M, Vieland VJ. Practical considerations for dividing data into subsets prior to PPL analysis. Hum Hered. 2008; 66: 223-37. PMID: 18612207.
    • (2008) Hum Hered , vol.66 , pp. 223-237
    • Govil, M.1    Vieland, V.J.2
  • 9
    • 69949177829 scopus 로고    scopus 로고
    • Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
    • Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry. 2009; 66(9): 947-56.
    • (2009) Arch Gen Psychiatry , vol.66 , Issue.9 , pp. 947-956
    • Guilmatre, A.1    Dubourg, C.2    Mosca, A.L.3    Legallic, S.4    Goldenberg, A.5    Drouin-Garraud, V.6
  • 10
    • 0035089146 scopus 로고    scopus 로고
    • Comparison of 'model-free' and 'model-based' linkage statistics in the presence of locus heterogeneity: single data set and multiple data set applications
    • PMID: 11287743
    • Huang J, Vieland VJ. Comparison of 'model-free' and 'model-based' linkage statistics in the presence of locus heterogeneity: single data set and multiple data set applications. Hum Hered. 2001; 51(4): 217-25. PMID: 11287743.
    • (2001) Hum Hered , vol.51 , Issue.4 , pp. 217-225
    • Huang, J.1    Vieland, V.J.2
  • 11
    • 78649526217 scopus 로고    scopus 로고
    • Association Statistics under the PPL Framework
    • Huang Y, Vieland VJ. Association Statistics under the PPL Framework. Genetic Epidem. 2010; 34: 835-45.
    • (2010) Genetic Epidem , vol.34 , pp. 835-845
    • Huang, Y.1    Vieland, V.J.2
  • 12
    • 46449135053 scopus 로고    scopus 로고
    • KELVIN: a 2nd generation distributed multiprocessor linkage and linkage disequilibrium analysis program
    • ASHG 56th annual meeting
    • Huang Y, Segre A, O'Connell J, Wang H, Vieland VJ. KELVIN: a 2nd generation distributed multiprocessor linkage and linkage disequilibrium analysis program. American Society of Human Genetics; 2006; ASHG 56th annual meeting.
    • (2006) American Society of Human Genetics
    • Huang, Y.1    Segre, A.2    O'Connell, J.3    Wang, H.4    Vieland, V.J.5
  • 13
    • 0000803318 scopus 로고
    • Construction of multilocus genetic linkage maps in humans
    • Lander ES, Green P. Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA. 1987; 84(8): 2363-7.
    • (1987) Proc Natl Acad Sci USA , vol.84 , Issue.8 , pp. 2363-2367
    • Lander, E.S.1    Green, P.2
  • 14
    • 0024430952 scopus 로고
    • Autism diagnostic interview: a semi-structure interview for parents and caregivers of autistic persons
    • Le Couteur A, Rutter M, Lord C. Autism diagnostic interview: a semi-structure interview for parents and caregivers of autistic persons. J Autism Dev Disord. 1989; 19: 363-87.
    • (1989) J Autism Dev Disord , vol.19 , pp. 363-387
    • Le Couteur, A.1    Rutter, M.2    Lord, C.3
  • 16
    • 50849106386 scopus 로고    scopus 로고
    • Genome-wide linkage analyses of quantitative and categorical autism subphenotypes
    • Liu XQ, Paterson AD, Szatmari P, et al. Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biol Psychiatry. 2008; 64(7): 561-70.
    • (2008) Biol Psychiatry , vol.64 , Issue.7 , pp. 561-570
    • Liu, X.Q.1    Paterson, A.D.2    Szatmari, P.3
  • 20
    • 38849084666 scopus 로고    scopus 로고
    • A second-generation combined linkage physical map of the human genome
    • Matise TC, Chen F, Chen W, De La Vega FM, Hansen M, He C, et al. A second-generation combined linkage physical map of the human genome. Genome Res. 2007; 17(12): 1783-6.
    • (2007) Genome Res , vol.17 , Issue.12 , pp. 1783-1786
    • Matise, T.C.1    Chen, F.2    Chen, W.3    de la Vega, F.M.4    Hansen, M.5    He, C.6
  • 21
    • 78751705368 scopus 로고    scopus 로고
    • Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
    • Pagnamenta A, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, et al. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J Med Genet. 2011; 48: 48-54.
    • (2011) J Med Genet , vol.48 , pp. 48-54
    • Pagnamenta, A.1    Khan, H.2    Walker, S.3    Gerrelli, D.4    Wing, K.5    Bonaglia, M.C.6    Giorda, R.7
  • 22
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010; 466(7304): 368-72.
    • (2010) Nature , vol.466 , Issue.7304 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3    Anney, R.4    Merico, D.5    Regan, R.6
  • 23
    • 36248977635 scopus 로고    scopus 로고
    • Improving power in genome-wide association studies: weights tip the scale
    • Roeder K, Devlin B, Wasserman L. Improving power in genome-wide association studies: weights tip the scale. Genet Epidemiol. 2007; 31(7): 741-7.
    • (2007) Genet Epidemiol , vol.31 , Issue.7 , pp. 741-747
    • Roeder, K.1    Devlin, B.2    Wasserman, L.3
  • 26
    • 0001395571 scopus 로고
    • Testing for heterogeneity of recombination fraction values in human genetics
    • Smith CAB. Testing for heterogeneity of recombination fraction values in human genetics. Ann Hum Genet. 1963; 27: 175-82.
    • (1963) Ann Hum Genet , vol.27 , pp. 175-182
    • Smith, C.A.B.1
  • 28
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007; 39(3): 319-28.
    • (2007) Nat Genet , vol.39 , Issue.3 , pp. 319-328
    • Szatmari, P.1    Paterson, A.D.2    Zwaigenbaum, L.3    Roberts, W.4    Brian, J.5    Liu, X.Q.6
  • 31
    • 0032231376 scopus 로고    scopus 로고
    • Bayesian linkage analysis, or: how I learned to stop worrying and love the posterior probability of linkage
    • PMID: 9758634
    • Vieland VJ. Bayesian linkage analysis, or: how I learned to stop worrying and love the posterior probability of linkage. Am J Hum Genet. 1998; 63(4): 947-54. PMID: 9758634.
    • (1998) Am J Hum Genet , vol.63 , Issue.4 , pp. 947-954
    • Vieland, V.J.1
  • 32
    • 33748591490 scopus 로고    scopus 로고
    • Thermometers: something for statistical geneticists to think about
    • PMID: 16770079
    • Vieland VJ. Thermometers: something for statistical geneticists to think about. Hum Hered. 2006; 61(3): 144-56. PMID: 16770079.
    • (2006) Hum Hered , vol.61 , Issue.3 , pp. 144-156
    • Vieland, V.J.1
  • 33
    • 0002985658 scopus 로고    scopus 로고
    • Review of statistical evidence: a likelihood paradigm
    • Vieland VJ, Hodge SE. Review of statistical evidence: a likelihood paradigm. Am J Hum Genet. 1998; 63: 283-9.
    • (1998) Am J Hum Genet , vol.63 , pp. 283-289
    • Vieland, V.J.1    Hodge, S.E.2
  • 34
    • 0035089255 scopus 로고    scopus 로고
    • Power to detect linkage based on multiple sets of data in the presence of locus heterogeneity: comparative evaluation of model-based linkage methods for affected sib pair data
    • PMID: 11287741
    • Vieland VJ, Wang K, Huang J. Power to detect linkage based on multiple sets of data in the presence of locus heterogeneity: comparative evaluation of model-based linkage methods for affected sib pair data. Hum Hered. 2001; 51(4): 199-208. PMID: 11287741.
    • (2001) Hum Hered , vol.51 , Issue.4 , pp. 199-208
    • Vieland, V.J.1    Wang, K.2    Huang, J.3
  • 35
    • 44449155771 scopus 로고    scopus 로고
    • A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications
    • PMID: 18485327
    • Vieland VJ, Huang Y, Bartlett C, Davies TF, Tomer Y. A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications. Am J Hum Genet. 2008; 82(6): 1349-56. PMID: 18485327.
    • (2008) Am J Hum Genet , vol.82 , Issue.6 , pp. 1349-1356
    • Vieland, V.J.1    Huang, Y.2    Bartlett, C.3    Davies, T.F.4    Tomer, Y.5
  • 36
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
    • Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry. 2006; 11(1): 18-28.
    • (2006) Mol Psychiatry , vol.11 , Issue.1 , pp. 18-28
    • Vorstman, J.A.1    Staal, W.G.2    van Daalen, E.3    van Engeland, H.4    Hochstenbach, P.F.5    Franke, L.6
  • 37
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Welcome Trust Case Control Consortium, PMID: 17554300
    • Welcome Trust Case Control Consortium. Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature. 2007; 447(7145): 661-78. PMID: 17554300.
    • (2007) Nature , vol.447 , Issue.7145 , pp. 661-678
  • 40
    • 23844440572 scopus 로고    scopus 로고
    • The posterior probability of linkage allowing for linkage disequilibrium and a new estimate of disequilibrium between a trait and a marker
    • PMID: 16015031
    • Yang X, Huang J, Logue MW, Vieland VJ. The posterior probability of linkage allowing for linkage disequilibrium and a new estimate of disequilibrium between a trait and a marker. Hum Hered. 2005; 59: 210-9. PMID: 16015031.
    • (2005) Hum Hered , vol.59 , pp. 210-219
    • Yang, X.1    Huang, J.2    Logue, M.W.3    Vieland, V.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.