Strategies for autism candidate gene analysis

Novartis Foundation Symposium

Volumn 251, Issue , 2003, Pages 48-69

  Barnby, G ^a   Monaco, A P ^a   Frith, U ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; ARTICLE; AUTISM; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; META ANALYSIS; PHENOTYPE; RISK FACTOR;

ANIMALS; AUTISTIC DISORDER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; LINKAGE (GENETICS); META-ANALYSIS; PHENOTYPE; RISK FACTORS;

EID: 1542576410     PISSN: None     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Review

References (60)

1. Abecasis GR, Noguchi E, Heinzmann A et al 2001 Extent and distribution of linkage disequilibrium in three genomic regions. Am J Hum Genet 68:191-197
2. Ardlie KG, Kruglyak L, Seielstad M 2002 Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 3:299-309
3. Badner JA, Gershon ES 2002 Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7. Mol Psychiatry 7:56-66
4. Betancur C, Corbex M, Spielewoy C et al 2002 Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder. Mol Psychiatry 7:67-71
5. Bonora E, Bacchelli E, Levy ER et al 2002 Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Mol Psychiatry 7:289-301
6. Buxbaum JD, Silverman JM, Smith CJ et al 2001 Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 68:1514-1520
7. Cavanaugh J 2001 International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16. Am J Hum Genet 68:1165-1171
8. Chakrabarti S, Fombonne E 2001 Pervasive developmental disorders in preschool children. J Am Med Assoc 285:3093-3099
9. CLSA Collaborative Linkage Study of Autism 2001 An autosomal genomic screen for autism. Am J Med Genet 105:609-615
10. Collins A, Lonjou C, Morton NE 1999 Genetic epidemiology of single-nucleotide polymorphisms [see comments]. Proc Natl Acad Sci USA 96:15173-15177
11. Cordell HJ 2001 Sample size requirements to control for stochastic variation in magnitude and location of allele-sharing linkage statistics in affected sibling pairs. Ann Hum Genet 65:491-502
12. Dahlman I, Eaves IA, Kosoy R et al 2002 Parameters for reliable results in genetic association studies in common disease. Nat Genet 30:149-150
13. Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES 2001 High-resolution haplotype structure in the human genome. Nat Genet 29:229-232
14. Eisenbarth I, Striebel AM, Moschgath E, Vogel W, Assum G 2001 Long-range sequence composition mirrors linkage disequilibrium pattern in a 1.13 Mb region of human chromosome 22. Hum Mol Genet 10:2833-2839
15. Feakes R, Sawcer S, Chataway J et al 1999 Exploring the dense mapping of a region of potential linkage in complex disease: an example in multiple sclerosis. Genet Epidemiol 17:51-63
16. Feinstein C, Reiss AL 1998 Autism: the point of view from fragile X studies. J Autism Dev Disord 28:393-405
17. Fisher SE, Francks C, McCracken JT et al 2002 A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. Am J Hum Genet 70:1183-1196
18. Folstein SE, Rosen-Sheidley B 2001 Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2:943-955
19. Gillberg C 1998 Chromosomal disorders and autism. J Autism Dev Disord 28:415-425
20. Glatt CE, DeYoung JA, Delgado S et al 2001 Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes. Nat Genet 27:435-438
21. Goldstein DB 2001 Islands of linkage disequilibrium. Nat Genet 29:109-111
22. Hellings JA, Hossain S, Martin JK, Baratang RR 2002 Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study. Am J Med Genet 114:190-195
23. Hugot JP, Chamaillard M, Zouali H et al 2001 Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411:599-603
24. IMGSAC International Molecular Genetic Study of Autism Consortium 2001a Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 10:973-982
25. IMGSAC International Molecular Genetic Study of Autism Consortium 2001b A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 69:570-581
26. Ingram JL, Stodgell CJ, Hyman SL et al 2000 Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Teratology 62:393-405
27. Jeffreys AJ, Kauppi L, Neumann R 2001 Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet 29:217-222
28. Johnson GC, Esposito L, Barratt BJ et al 2001 Haplotype tagging for the identification of common disease genes. Nat Genet 29:233-237
29. Kelsoe JR, Spence MA, Loetscher E et al 2001 A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc Natl Acad Sci USA 98:585-590
30. Kim SJ, Cox N, Courchesne R et al 2002 Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder. Mol Psychiatry 7:278-88
31. Kruglyak L 1999 Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 22:139-144
32. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP 2001 A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519-523
33. Lander E, Kruglyak L 1995 Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results [see comments]. Nat Genet 11:241-247
34. Li J, Tabor HK, Nguyen L et al 2002 Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. Am J Med Genet 114:24-30
35. Liu J, Nyholt DR, Magnussen P et al 2001 A genomewide screen for autism susceptibility loci. Am J Hum Genet 69:327-340
36. Martin ER, Lai EH, Gilbert JR et al 2000 SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am J Hum Genet 67:383-394
37. Mbarek O, Marouillat S, Martineau J, Barthelemy C, Muh JP, Andres C 1999 Association study of the NF1 gene and autistic disorder. Am J Med Genet 88:729-732
38. McCoy PA, Shao Y, Wolpert CM et al 2002 No association between the WNT2 gene and autistic disorder. Am J Med Genet 114:106-109
39. Newbury DF, Bonora E, Lamb JA et al 2002 FOXP2 Is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet 70:1318-1327
40. Ogura Y, Bonen DK, Inohara N et al 2001 A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411:603-606
41. Patil N, Berno AJ, Hinds DA et al 2001 Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294:1719-1723
42. Persico A, D'Agruma L, Maiorano N et al 2001 Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Molecular Psychiatry 6:150-159
43. Philippe A, Martinez M, Guilloud-Bataille M et al 1999 Genome-wide scan for autism susceptibility genes. Paris autism research international sibpair study [published erratum appears in Hum Mol Genet 8:1353]. Hum Mol Genet 8:805-812
44. Philippe A, Guilloud-Bataille M, Martinez M et al 2002 Analysis often candidate genes in autism by association and linkage. Am J Med Genet 114:125-128
45. Pickles A, Starr E, Kazak S et al 2000 Variable expression of the autism broader phenotype: findings from extended pedigrees. J Child Psychol Psychiatry 41:491-502
46. Pritchard JK 2001 Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124-137
47. Pritchard JK, Przeworski M 2001 Linkage disequilibrium in humans: models and data. Am J Hum Genet 69:1-14
48. Rioux JD, Daly MJ, Silverberg MS et al 2001 Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 29:223-228
49. Risch N, Spiker D, Lotspeich L et al 1999 A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 65:493-507
50. Roberts SB, MacLean CJ, Neale MC, Eaves LJ, Kendler KS 1999 Replication of linkage studies of complex traits: an examination of variation in location estimates. Am J Hum Genet 65:876-884
51. Shao Y, Wolpert CM, Raiford KL et al 2002 Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet 114:99-105
52. Skuse DH 2000 Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediatr Res 47:9-16
53. Smalley SL 1998 Autism and tuberous sclerosis. J Autism Dev Disord 28:407-414
54. Spielman RS, McGinnis RE, Ewens WJ 1993 Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
55. Szatmari P, Jones MB, Zwaigenbaum L, MacLean JE 1998 Genetics of autism: overview and new directions. J Autism Dev Disord 28:351-368
56. Wassink TH, Piven J, Patil SR 2001a Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatr Genet 11:57-63
57. Wassink TH, Piven J, Vieland VJ et al 2001b Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet 105:406-413
58. Weiss KM, Terwilliger JD 2000 How many diseases does it take to map a gene with SNPs? Nat Genet 26:151-157
59. Williams NM, Rees MI, Holmans P et al 1999 A two-stage genome scan for schizophrenia susceptibility genes in 196 affected sibling pairs. Hum Mol Genet 8:1729-1739
60. Zhang H, Zhang C, Robitaille S et al 2000 The Reln gene as a candidate locus for autism spectrumdisorders. Poster presentation at the 50th Annual Meeting of the American Society for Human Genetics. October 2000, Pennsylvania. View the abstract at http://www.faseb.org/cgi-bin/ashg00/f2007.htm