Abstract
The role of genetic factors in the etiology of the autistic spectrum of disorders has clearly been demonstrated. Ten chromosomal regions, on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q have potentially been linked to autism.1–8 We have analyzed these chromosomal regions in a total of 17 multiplex families with autism originating from the isolated Finnish population by pairwise linkage analysis and sib-pair analysis. Mild evidence for putative contribution was found only with the 1p chromosomal region in the susceptibility to autism. Our data suggest that additional gene loci exist for autism which will be detectable in and even restricted to the isolated Finnish population.
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References
Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J et al. A genomic screen of autism: evidence for a multilocus etiology Am J Hum Genet 1999; 65: 493–507
International Molecular Genetic Study of Autism Consortium . A full genome screen for autism with evidence for linkage to a region on chromosome 7q Hum Mol Genet 1998; 7: 571–578
Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim et al. Genome-wide scan for autism susceptibility genes Hum Mol Genet 1999; 8: 805–812
Veenstra-VanderWeele J, Gonen D, Leventhal BL, Cook EH Jr . Mutation screening of the UBE3A/E6-AP gene in autistic disorder Mol Psychiatry 1999; 4: 64–67
Vieland V . Results of a genomic screen for autism include strong evidence of linkage to chromosome 13 Am J Hum Genet 1998; 63: A16
Klauck SM, Poustka F, Benner A, Lesch KP, Poustka A . Serotonin transporter (5-HTT) gene variants associated with autism? Hum Mol Genet 1997; 6: 2233–2238
Cook EH Jr, Courchesne R, Lord C, Cox NJ, Yan S, Lincoln A et al. Evidence of linkage between the serotonin transporter and autistic disorder Mol Psychiatry 1997; 2: 247–250
Cook EH Jr, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ et al. Linkage-disequilibrium mapping of autistic disorder, with 15q11–13 markers Am J Hum Genet 1998; 62: 1077–1083
Bailey A, Phillips W, Rutter M . Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives J Child Psychol Psychiatr Allied Discip 1996; 37: 89–126
Szatmari P, Jones MB, Zwaigenbaum L, MacLean JE . Genetics of autism: overview and new directions J Autism Dev Disord 1998; 28: 351–368
Peltonen L, Pekkarinen P, Aaltonen J . Messages from an isolate: lessons from the Finnish gene pool Biol Chem Hoppe Seyler 1995; 376: 697–704
Vehmanen P, Friedman LS, Eerola H, McClure M, Ward B, Sarantaus L et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes Hum Mol Genet 1997; 6: 2309–2315
Vehmanen P, Friedman LS, Eerola H, Sarantaus L, Pyrhonen S, Ponder BA et al. A low proportion of BRCA2 mutations in Finnish breast cancer families Am J Hum Genet 1997; 60: 1050–1058
Kuokkanen S, Gschwend M, Rioux JD, Daly MJ, Terwilliger JD, Tienari PJ et al. Genomewide scan of multiple sclerosis in Finnish multiplex families Am J Hum Genet 1997; 61: 1379–1387
Hovatta I, Varilo T, Suvisaari J, Terwillinger JD, Ollikainen V, Arajärvi R et al. A genomewide scan for schizophrenia genes in an isolated Finnish subpopulation suggesting multiple susceptibility loci Am J Hum Genet 1999; 65: 1114–1124
Kainulainen K, Perola M, Terwilliger J, Kaprio J, Koskenvuo M, Syvanen AC et al. Evidence for involvement of the type 1 angiotensin II receptor locus in essential hypertension Hypertension 1999; 33: 844–849
Pajukanta P, Terwilliger JD, Perola M, Hiekkalinna T, Nuotio I, Ellonen P et al. Genomewide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels Am J Hum Genet 1999; 64: 1453–1463
Ehlers S, Gillberg C . The epidemiology of Asperger syndrome. A total population study J Child Psychol Psychiatr Allied Discip 1993; 34: 1327–1350
World Health Organization . International Classification of Diseases (10th edn, ch 5). Mental and behavioural disorders. Diagnostic criteria for research WHO: Geneva 1993
Lathrop GM, Lalouel JM . Easy calculations of lod scores and genetic risks on small computers Am J Hum Genet 1984; 36: 460–465
Lathrop GM, Lalouel JM, White RL . Construction of human linkage maps: likelihood calculations for multilocus linkage analysis Genet Epidemiol 1986; 3: 39–52
Kuokkanen S, Sundvall M, Terwilliger JD, Tienari PJ, Wikstrom J, Holmdahl R et al. A putative vulnerability locus to multiple sclerosis maps to 5p14–p12 in a region syntenic to the murine locus Eae2 Nat Genet 1996; 13: 477–480
Acknowledgements
We thank the families for their participation. We are grateful to Joseph Terwilliger for critical comments on the manuscript. This study was supported by the Academy of Finland and the Foundation for Pediatric Research (Ulla Hjelt Fond).
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Auranen, M., Nieminen, T., Majuri, S. et al. Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families. Mol Psychiatry 5, 320–322 (2000). https://doi.org/10.1038/sj.mp.4000708
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DOI: https://doi.org/10.1038/sj.mp.4000708
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