Runs of homozygosity implicate autozygosity as a schizophrenia risk factor

Keller, Matthew C., Simonson, Matthew A., Ripke, Stephan, Neale, Ben M., Gejman, Pablo V., Howrigan, Daniel P., Lee, Sang Hong, Lencz, Todd, Levinson, Douglas F., Sullivan, Patrick F., The Schizophrenia Psychiatric Genome-Wide Association Study Consortium and Mowry, Bryan (2012) Runs of homozygosity implicate autozygosity as a schizophrenia risk factor. PloS Genetics, 8 4: 425-435. doi:10.1371/journal.pgen.1002656

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Author Keller, Matthew C.
Simonson, Matthew A.
Ripke, Stephan
Neale, Ben M.
Gejman, Pablo V.
Howrigan, Daniel P.
Lee, Sang Hong
Lencz, Todd
Levinson, Douglas F.
Sullivan, Patrick F.
The Schizophrenia Psychiatric Genome-Wide Association Study Consortium
Mowry, Bryan
Title Runs of homozygosity implicate autozygosity as a schizophrenia risk factor
Journal name PloS Genetics   Check publisher's open access policy
ISSN 1553-7390
Publication date 2012-04-01
Year available 2012
Sub-type Article (original research)
DOI 10.1371/journal.pgen.1002656
Open Access Status DOI
Volume 8
Issue 4
Start page 425
End page 435
Total pages 11
Place of publication San Francisco, CA, United States
Publisher Public Library of Science
Language eng
Abstract Autozygosity occurs when two chromosomal segments that are identical from a common ancestor are inherited from each parent. This occurs at high rates in the offspring of mates who are closely related (inbreeding), but also occurs at lower levels among the offspring of distantly related mates. Here, we use runs of homozygosity in genome-wide SNP data to estimate the proportion of the autosome that exists in autozygous tracts in 9,388 cases with schizophrenia and 12,456 controls. We estimate that the odds of schizophrenia increase by ~17% for every 1% increase in genome-wide autozygosity. This association is not due to one or a few regions, but results from many autozygous segments spread throughout the genome, and is consistent with a role for multiple recessive or partially recessive alleles in the etiology of schizophrenia. Such a bias towards recessivity suggests that alleles that increase the risk of schizophrenia have been selected against over evolutionary time.
Keyword Autozygosity
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID MH085812
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
Queensland Brain Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 52 times in Thomson Reuters Web of Science Article | Citations
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