Abstract

Despite compelling evidence from twin and family studies indicating a strong genetic involvement in the etiology of autism, the unequivocal detection of autism susceptibility genes remains an elusive goal. The purpose of this review is to evaluate the current state of autism genetics research, with attention focused on new techniques and analytic approaches. We first present a brief overview of evidence for the genetic basis of autism, followed by an appraisal of linkage and candidate gene study findings and consideration of new analytic approaches to the study of complex psychiatric conditions, namely, genome-wide association studies, assessment of structural variation within the genome, and the incorporation of endophenotypes in genetic analysis.

Keywords

EndophenotypeAutismHeritability of autismPhenomeTwin studyCandidate genePsychiatric geneticsGenomeGenome-wide association studyGenetic associationLinkage (software)GeneticsBiologyGenetic linkageAutism spectrum disorderPsychologyComputational biologyGeneHeritabilityNeuroscienceDevelopmental psychologySchizophrenia (object-oriented programming)PsychiatryGenotypeCognitionSingle-nucleotide polymorphism

Affiliated Institutions

Related Publications

Publication Info

Year
2008
Type
review
Volume
67
Issue
9
Pages
829-837
Citations
106
Access
Closed

External Links

View on DOI.org

Social Impact

Altmetric
PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

106
OpenAlex

Cite This

Molly Losh, Patrick F. Sullivan, Dimitri G. Trembath et al. (2008). Current Developments in the Genetics of Autism: From Phenome to Genome. Journal of Neuropathology & Experimental Neurology , 67 (9) , 829-837. https://doi.org/10.1097/nen.0b013e318184482d

Identifiers

DOI
10.1097/nen.0b013e318184482d