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A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p
Open accessAbstract
Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.
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“There have been numerous proposals to resolve ADI-R and ADOS discordance or relax ADI-R criteria to include the broader spectrum of ASD in addition to the formerly defined Autistic Disorder (IMGSAC 2001; Risi et al. 2006; Sung et al. 2005).”
From Using standardized diagnostic instruments to classify children with autism in the study to explore early development (2015) · cites this paper as IMGSAC 2001
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“A genome-wide study of whole-blood 5-HT as a quantitative trait demonstrated associations with Slc6a4 [49]”
From Serotonin as a link between the gut-brain-microbiome axis in autism spectrum disorders (2018) · cites this paper as [49]
Citations
Cites
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., Pickles, A., & Rutter, M. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005592401947 · Cited by 7,520
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
Lander, E. S., & Kruglyak, L. (1995) · Nature Genetics · doi:10.1038/ng1195-241 · Cited by 5,236
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679
A comprehensive genetic map of the human genome based on 5,264 microsatellites
Dib, C., Fauré, S., Fizames, C., Samson, D. S., Drouot, N., Alain Vignal, A., Millasseau, P., Marc, S., Kazan, J., Seboun, E., et al. (1996) · Nature · doi:10.1038/380152a0 · Cited by 2,927
Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461
Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., & Schopler, E. (1989) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02211841 · Cited by 2,030
INFANTILE AUTISM: A GENETIC STUDY OF 21 TWIN PAIRS
Folstein, S., & Rutter, M. (1977) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1977.tb00443.x · Cited by 1,361 · cited 3×
“In three same-sex twin studies, concordance for autism in MZ pairs varied between 36% and 91%, compared with 0% in DZ pairs (Folstein and Rutter 1977; Steffenburg 1991; Bailey et al. 1995), leading to an estimated heritability of 190% (Bailey et al. 1995).”
BackgroundResultInfluential(2012) · Springer eBooks · doi:10.1007/springerreference_183812 · Cited by 1,218
The epidemiology of autism: a review
FOMBONNE, E. (1999) · Psychological Medicine · doi:10.1017/s0033291799008508 · Cited by 981
Peabody Picture Vocabulary Test
Henninger, N. (2010) · Springer eBooks · doi:10.1007/978-0-387-79948-3_1581 · Cited by 935
Reduced hippocampal LTP and spatial learning in mice lacking NMDA receptor ε1 subunit
Sakimura, K., Kutsuwada, T., Ito, I., Manabe, T., Takayama, C., Kushiya, E., Yagi, T., Aizawa, S., Inoue, Y., Sugiyama, H., et al. (1995) · Nature · doi:10.1038/373151a0 · Cited by 865
A Genomic Screen of Autism: Evidence for a Multilocus Etiology
Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302497 · Cited by 684
Bailey, A. J., Amaia Hervas, G., Matthews, N., Palferman, S., Wallace, S., Aubin, A., Michelotti, J., Wainhouse, C., Papanikolaou, Κ., Rutter, M. L., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.571 · Cited by 543
A Comprehensive Human Linkage Map with Centimorgan Density
Murray, J. C., Buetow, K. H., Weber, J. L., Ludwigsen, S., Scherpbier-Heddema, T., Manion, F. J., Quillen, J., Sheffield, V. C., Sunden, S. L. F., Duyk, G. M., et al. (1994) · Science · doi:10.1126/science.8091227 · Cited by 535
Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 511
Leavitt, V. M., & Weber, E. (2018) · Springer eBooks · doi:10.1007/978-3-319-57111-9_1068 · Cited by 489
Genome-Wide Scan for Autism Susceptibility Genes
Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.805 · Cited by 471
Autism: The Phenotype in Relatives
Bailey, A. J., Palferman, S., Heavey, L., & Couteur, A. S. L. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026048320785 · Cited by 467
Evidence of linkage between the serotonin transporter and autistic disorder
Cook, E., Yeung-Courchesne, R., Lord, C., Cox, N. J., Yan, S., Lincoln, A. J., Haas, R., Courchesne, E., & LEVENTHAL, B. L. (1997) · Molecular Psychiatry · doi:10.1038/sj.mp.4000266 · Cited by 426
Pickles, A. R., Bolton, P., Macdonald, H., Bailey, A., Couteur, A. S. L., Sim, C. H., & Rutter, M. L. (1995) · Europe PMC (PubMed Central) · Cited by 388
Cox, N. J., Frigge, M., Nicolae, D. L., CONCANNON, P. J., Hanis, C. L., Bell, G. I., & Kong, A. (1999) · Nature Genetics · doi:10.1038/6002 · Cited by 378
Asymptotic properties of affected-sib-pair linkage analysis.
Holmans, P. (1993) · PubMed · Cited by 370
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
Cook, E. H., Courchesne, R. Y., Cox, N. J., Lord, C., Gonen, D., Guter, S. J., Lincoln, A., Nix, K., Haas, R., Leventhal, B. L., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301832 · Cited by 369
Zerucha, T., Stühmer, T., Hatch, G., Park, B. K., Long, Q., Yu, G. K., Gambarotta, A., Schultz, J. R., Rubenstein, J. L. R., & Ekker, M. (2000) · Journal of Neuroscience · doi:10.1523/jneurosci.20-02-00709.2000 · Cited by 360
Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder
Persico, A. M., D'Agruma, L., Maiorano, N., Totaro, A., Militerni, R., Bravaccio, C., Wassink, T. H., Schneider, C., Melmed, R., Trillo, S., et al. (2001) · Molecular Psychiatry · doi:10.1038/sj.mp.4000850 · Cited by 337
Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity
Buxbaum, J. D., Silverman, J. M., Smith, C. J., Kilifarski, M., Reichert, J. G., Hollander, E., LAWLOR, B. A., Fitzgerald, M., Greenberg, D. A., & Davis, K. L. (2001) · The American Journal of Human Genetics · doi:10.1086/320588 · Cited by 325
Chromosome–specific microsatellite sets for fluorescence–based, semi–automated genome mapping
Reed, P., Davies, J. L., Copeman, J. B., Bennett, S. T., Palmer, S. M., Pritchard, L. E., Gough, S. C. L., Kawaguchi, Y., Cordell, H. J., Balfour, K. M., et al. (1994) · Nature Genetics · doi:10.1038/ng0794-390 · Cited by 302
Variable Expression of the Autism Broader Phenotype: Findings from Extended Pedigrees
Pickles, A. R., Starr, E., Kazak, S., Bolton, P., Papanikolaou, Κ., Bailey, A. J., Goodman, R., & Rutter, M. L. (2000) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00634 · Cited by 294
Skuse, D. H. (2000) · Pediatric Research · doi:10.1203/00006450-200001000-00006 · Cited by 285
Replication of Linkage Studies of Complex Traits: An Examination of Variation in Location Estimates
Roberts, S. B., MacLean, C. J., Neale, M. C., Eaves, L. J., & Kendler, K. S. (1999) · The American Journal of Human Genetics · doi:10.1086/302528 · Cited by 274
Serotonin transporter (5-HTT) gene variants associated with autism?
Klauck, S. M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.13.2233 · Cited by 259
Plexin/neuropilin complexes mediate repulsion by the axonal guidance signal semaphorin 3A
Rohm, B., Ottemeyer, A., Lohrum, M. A. E., & Püschel, A. W. (2000) · Mechanisms of Development · doi:10.1016/s0925-4773(00)00269-0 · Cited by 249
Genetics of Autism: Overview and New Directions
Szatmari, P., Jones, M. B., Zwaigenbaum, L., & MacLean, J. E. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026096203946 · Cited by 249
Chromosomal disorders and autism
Gillberg, C. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026004505764 · Cited by 237
Polygenic disease: methods for mapping complex disease traits
Weeks, D. E., & Lathrop, G. M. (1995) · Trends in Genetics · doi:10.1016/s0168-9525(00)89163-5 · Cited by 231
Smalley, S. L. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026052421693 · Cited by 208
Lai, C. S. L., Fisher, S. E., Hurst, J. A., Levy, E. R., Hodgson, S. V., Fox, M., Jeremiah, S. J., Povey, S., Jamison, D. C., Green, E. D., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/303011 · Cited by 205
Genetic Studies of Autistic Disorder and Chromosome 7
Ashley‐Koch, A. E., Wolpert, C. M., Menold, M. M., Zaeem, L., Basu, S., Donnelly, S. L., Ravan, S. A., Powell, C. M., Qumsiyeh, M. Β., Aylsworth, A. S., et al. (1999) · Genomics · doi:10.1006/geno.1999.5968 · Cited by 195
Mega2: data-handling for facilitating genetic linkage and association analyses
Mukhopadhyay, N., Almasy, L. A., Schroeder, M., Mulvihill, W. P., & Weeks, D. E. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti364 · Cited by 189
A Multipoint Method for Detecting Genotyping Errors and Mutations in Sibling-Pair Linkage Data
Douglas, J. A., Boehnke, M., & Lange, K. L. (2000) · The American Journal of Human Genetics · doi:10.1086/302861 · Cited by 180
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q
International Molecular Genetic Study of Autism Consortium (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.9.973 · Cited by 176
Construction of a GT polymorphism map of human 9q
Kwiatkowski, D. J., Henske, E. P., Weimer, K., Ozelius, L. J., Gusella, J. F., & Haines, J. L. (1992) · Genomics · doi:10.1016/0888-7543(92)90370-8 · Cited by 166
Autism: recent molecular genetic advances
Lamb, J. A. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.6.861 · Cited by 164
Neuropsychiatric Assessmenit of Children with Autism: A Population‐Based Study
Steffenburg, S. (1991) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1991.tb14915.x · Cited by 128
Holmans, P., & Clayton, D. G. (1995) · PubMed · Cited by 106
Genetic studies in autistic disorder and chromosome 15
Bass, M. P., Menold, M. M., Wolpert, C. M., Donnelly, S. L., Ravan, S. A., Hauser, E. R., Maddox, L. O., Vance, J. M., Abramson, R. K., Wright, H. H., et al. (2000) · Neurogenetics · doi:10.1007/s100489900081 · Cited by 97
5-HTTLPR variants not associated with autistic spectrum disorders
Zhong, N., Ye, L., Ju, W., Tsiouris, J. A., Cohen, I., & Brown, W. T. (1999) · Neurogenetics · doi:10.1007/s100480050064 · Cited by 87
Blagitko, N., Schulz, U., Schinzel, A., Ropers, H., & Kalscheuer, V. M. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.13.2387 · Cited by 81
Hallmayer, J. F. (1996) · Archives of General Psychiatry · doi:10.1001/archpsyc.1996.01830110021003 · Cited by 64
Hallmayer, J. F., Pintado, E., Lotspeich, L. J., Spiker, D., McMahon, W., Petersen, P. B., Nicholas, P., Pingree, C., KRAEMER, H. C., & Wong, D. L. (1994) · PubMed Central · Cited by 59
Raay, T. J. V., Foskett, S. M., Connors, T. D., Klinger, K. W., Landes, G. M., & Burn, T. C. (1997) · Genomics · doi:10.1006/geno.1997.4659 · Cited by 56
Mutation screening of the UBE3A /E6-AP gene in autistic disorder
Veenstra-VanderWeele, J. M., Gonen, D., LEVENTHAL, B. L., & Cook, E. (1999) · Molecular Psychiatry · doi:10.1038/sj.mp.4000472 · Cited by 49
Genetic clues to the biological basis of autism
Turner, M., Barnby, G., & Bailey, A. J. (2000) · Molecular Medicine Today · doi:10.1016/s1357-4310(00)01712-3 · Cited by 44
Evaluating pedigree data. I. The estimation of pedigree error in the presence of marker mistyping.
Lathrop, M. G., Hooper, A., Huntsman, J., & Ward, R. H. (1983) · PubMed · Cited by 41
Lim, H. H., Michael, G. J., Smith, P. R., Lim, L., & Hall, C. (1992) · Biochemical Journal · doi:10.1042/bj2870415 · Cited by 33
Construction of a Physical and Transcript Map Flanking the Imprinted MEST/PEG1 Region at 7q32
Hayashida, S., Yamasaki, K., Asada, Y., Soeda, E., Niikawa, N., & Kishino, T. (2000) · Genomics · doi:10.1006/geno.2000.6206 · Cited by 30
Evaluation of linkage of markers on chromosome 6p with schizophrenia in Taiwanese families
Hwu, H., Lin, M., Lee, P.-C., Lee, S. F. ‐., Ouyang, W., & Liu, C. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000207)96:1 · Cited by 30
Lathrop, M. G., Huntsman, J. W., Hooper, A. B., & Ward, R. H. (1983) · Human Heredity · doi:10.1159/000153406 · Cited by 24
Burn, T. C., Connors, T. D., Raay, T. J. V., Dackowski, W. R., Millholland, J. M., Klinger, K. W., & Landes, G. M. (1996) · Genome Research · doi:10.1101/gr.6.6.525 · Cited by 24
Souery, D., Lipp, O., Rivelli, S. K., Massat, I., Serretti, A., Cavallini, M. C., Ackenheil, M., Adolfsson, R., Aschauer, H. N., Blackwood, D., et al. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991015)88:5 · Cited by 19
Autism and the x-chromosome: Multipoint SIB pair analysis
Halmayer, J., Hebert, J. M., Spiker, D., Lotspeich, L. J., McMahon, W. M., Petersen, P. B., Nicholas, P., Pingree, C., Lin, A. A., RISCH, N. J., et al. (1996) · Biological Psychiatry · doi:10.1016/0006-3223(96)84092-3 · Cited by 17
The Impact of Transmission-Ratio Distortion on Allele Sharing in Affected Sibling Pairs
Greenwood, C. M. T., & Morgan, K. W. (2000) · The American Journal of Human Genetics · doi:10.1086/302918 · Cited by 16
Murrell, J. R., Trofatter, J. A., Rutter, M., Cutone, S., Stotler, C., Rutter, J. L., Long, K., Turner, A. K., Deaven, L. L., Buckler, A., et al. (1995) · Genomics · doi:10.1016/0888-7543(95)80109-y · Cited by 15
Physical and cDNA Mapping in the DBH Region of Human Chromosome 9q34
Gilbert, J. R., Kumar, A., Newey, S. E., Rao, N. P., Ioannou, P. A., Qiu, H., Lin, D., Xu, P., Pettenati, M. J., & Pericak‐Vance, M. A. (2000) · Human Heredity · doi:10.1159/000022905 · Cited by 6
Research works printed but not linked: 7
- Ashley-Koch, 2000, Examination of epigentic factors and gene-gene interaction influencing genetic susceptibility at chromosome 7 and 15 for autistic disorder, Am J Hum Genet Suppl, 67, A46
- Paterson, 1999, Transmission ratio distortion in females on chromosome 10p11-p15, Am J Med Genet, 88, 657, 10.1002/(SICI)1096-8628(19991215)88:6<657::AID-AJMG15>3.0.CO;2-# · DOI
- Persico, 2000, Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples, Am J Med Genet, 96, 123, 10.1002/(SICI)1096-8628(20000207)96:1<123::AID-AJMG24>3.0.CO;2-N · DOI
- Salmon, 1999, Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism, Am J Med Genet, 88, 551, 10.1002/(SICI)1096-8628(19991015)88:5<551::AID-AJMG21>3.0.CO;2-# · DOI
- Sutcliffe, 2000, Linkage disequilibrium in autism families to markers in the 15q-q13 autism candidate region, Am J Hum Genet Suppl, 67, 46
- Vicente, 2000, Genetic variation of serotonin system genes in a sample of autistic families from Portugal, Am J Hum Genet Suppl, 67, 303
- Zhang, 2000, The Reln gene as a candidate locus for autism spectrum disorders, Am J Hum Genet Suppl, 67, 359
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Metadata
- Authors
- *
- Corresponding author
- *
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-09
- Volume
- 69
- Issue
- 3
- Pages
- 570-581
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1235486
- OpenAlex
- W2290802694
- Cited by
- 453
- References
- 72
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 5 · 2019: 6 · 2018: 7 · 2017: 5 · 2016: 11 · 2015: 16 · 2014: 12 · 2013: 25 · 2012: 15
- FWCI
- 17.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Funders
- Fondazione Telethon (E.1007)
- Natur og Univers, Det Frie Forskningsråd (9802210)
- National Institutes of Health (MO1 RR06022, K05 MH01196, K02 MH01389)
- Wellcome Trust
- National Institute of Child Health and Human Development (5-P01-HD-35482)
- Medical Research Council
- Deutsche Forschungsgemeinschaft
- Sundhed og Sygdom, Det Frie Forskningsråd
- Conseil Régional Midi-Pyrénées
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, genetic linkage, susceptibility genes, sib-pair analysis, chromosome 2q, chromosome 7q, chromosome 16p, chromosome 17q, allele sharing, candidate regions
- MeSH terms
- Alleles, Autistic Disorder, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 7, Genetic Testing, Humans, Molecular Sequence Data, Genetic Predisposition to Disease
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