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No evidence that common genetic risk variation is shared between schizophrenia and autism
Author(s) -
Vorstman Jacob A.S.,
Anney Richard J.L.,
Derks Eske M.,
Gallagher Louise,
Gill Michael,
de Jonge Maretha V.,
van Engeland Herman,
Kahn René S.,
Ophoff Roel A.
Publication year - 2013
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32121
Subject(s) - schizophrenia (object oriented programming) , autism , genetic architecture , polygenic risk score , allele , etiology , multifactorial inheritance , genetics , psychology , psychiatry , biology , gene , genotype , quantitative trait locus , single nucleotide polymorphism
The similarity between aspects of the clinical presentation of schizophrenia and autism spectrum disorders (ASD) suggests that elements of the biological etiology may also be shared between these two disorders. Recently, an increasing number of rare, mostly structural genetic variants are reported to increase the risk of both schizophrenia and ASD. We hypothesized that given this evidence for a shared genetic background based on rare genetic variants, common risk alleles may also be shared between ASD and schizophrenia. To test this hypothesis, the polygenic score, which summarizes the collective effect of a large number of common risk alleles, was used. We examined whether the polygenic score derived from a schizophrenia case–control dataset, previously reported by Purcell et al., was able to differentiate ASD cases from controls. The results demonstrate that the schizophrenia‐derived polygenic score is not different between ASD cases and controls, indicating that there is no important sharing of common risk alleles between the two neuropsychiatric disorders. Possibly, common risk alleles are less important in ASD in comparison to their more prominent role in schizophrenia and bipolar disorders. These findings provide important novel insights into shared and distinct elements of the genetic architecture of autism and schizophrenia. © 2012 Wiley Periodicals, Inc.