TY - JOUR
T1 - Current developments in the genetics of autism
T2 - From phenome to genome
AU - Losh, Molly
AU - Sullivan, Patrick F.
AU - Trembath, Dimitri
AU - Piven, Joseph
PY - 2008/9
Y1 - 2008/9
N2 - 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.
AB - 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.
KW - Autism
KW - Copy number variation (CNV)
KW - Endophenotype
KW - Genetic
UR - http://www.scopus.com/inward/record.url?scp=52649147140&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=52649147140&partnerID=8YFLogxK
U2 - 10.1097/NEN.0b013e318184482d
DO - 10.1097/NEN.0b013e318184482d
M3 - Review article
C2 - 18716561
AN - SCOPUS:52649147140
SN - 0022-3069
VL - 67
SP - 829
EP - 837
JO - Journal of neuropathology and experimental neurology
JF - Journal of neuropathology and experimental neurology
IS - 9
ER -