Genetics of autism

Brett S. Abrahams, Daniel H. Geschwind

Research output: Chapter in Book/Report/Conference proceedingChapter

12 Citations (Scopus)

Abstract

We have learned more about the molecular genetics of autism in the last 3 years than in the previous 30. This includes both a new appreciation for the role of rare genetic variation and the identification of the first contributory common variants by genome-wide association. These data show that although the population attributable risk of common variation may be moderate to large, the genotype risk of common variants at the individual level are small. In contrast, a large number of diverse rare mutations of large effect have been identified, but none appear specific to autism. All of these findings point to extreme genetic heterogeneity suggesting complex gene-gene or gene-environment interactions in autism etiology. Available knowledge, reviewed below, also suggests that phenotypic presentation is the result of complex interactions, and that implicated genetic risk factors in many cases cross the boundaries of established clinical diagnostic categories. Acceptance of this complexity and efforts to understand genetic variation in terms of intermediate phenotypes represent important directions for future research.

Original languageEnglish (US)
Title of host publicationVogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition)
PublisherSpringer-Verlag Berlin Heidelberg
Pages699-714
Number of pages16
ISBN (Print)9783540376545, 9783540376538
DOIs
StatePublished - 2010
Externally publishedYes

Fingerprint

Autistic Disorder
Genes
Gene-Environment Interaction
Genetic Heterogeneity
Molecular Biology
Genotype
Genome
Phenotype
Mutation
Population
Genetics

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Abrahams, B. S., & Geschwind, D. H. (2010). Genetics of autism. In Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition) (pp. 699-714). Springer-Verlag Berlin Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_29

Genetics of autism. / Abrahams, Brett S.; Geschwind, Daniel H.

Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg, 2010. p. 699-714.

Research output: Chapter in Book/Report/Conference proceedingChapter

Abrahams, BS & Geschwind, DH 2010, Genetics of autism. in Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg, pp. 699-714. https://doi.org/10.1007/978-3-540-37654-5_29
Abrahams BS, Geschwind DH. Genetics of autism. In Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg. 2010. p. 699-714 https://doi.org/10.1007/978-3-540-37654-5_29
Abrahams, Brett S. ; Geschwind, Daniel H. / Genetics of autism. Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg, 2010. pp. 699-714
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