In:
Psychiatry and Clinical Neurosciences, Wiley, Vol. 71, No. 11 ( 2017-11), p. 780-788
Abstract:
Rare gene variations are thought to confer substantial risk for schizophrenia. We performed a three‐stage study to identify rare variations that have a strong impact on the risk of developing schizophrenia. Methods In the first stage, we prioritized rare missense variations using whole‐exome sequencing (WES) data from three families, consisting of a proband, an affected sibling, and parents. In the second stage, we performed targeted resequencing of the PDCD11 coding region in 96 patients. In the third stage, we conducted an association study of rare PDCD11 variations with schizophrenia in a total of 1357 patients and 1394 controls. Results Via WES, we identified two rare missense PDCD11 variations, p.(Asp961Asn) and p.(Val1240Leu), shared by two affected siblings within families. Targeted resequencing of the PDCD11 coding region identified three rare non‐synonymous variations: p.(Asp961Asn), p.(Phe1835del), and p.(Arg1837His). The case–control study demonstrated no significant associations between schizophrenia and four rare PDCD11 variations: p.(Asp961Asn), p.(Val1240Leu), p.(Phe1835del), and p.(Arg1837His). Conclusion Our data do not support the role of rare PDCD11 variations in conferring substantial risk for schizophrenia in the Japanese population.
Type of Medium:
Online Resource
ISSN:
1323-1316
,
1440-1819
DOI:
10.1111/pcn.2017.71.issue-11
Language:
English
Publisher:
Wiley
Publication Date:
2017
detail.hit.zdb_id:
2010264-1
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