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Rare PDCD11 variations are not associated with risk of schizophrenia in J apan
Author(s) -
Hoya Satoshi,
Watanabe Yuichiro,
Hishimoto Akitoyo,
Nunokawa Ayako,
Kaneko Naoshi,
Muratake Tatsuyuki,
Shinmyo Naofumi,
Otsuka Ikuo,
Okuda Shujiro,
Inoue Emiko,
Igeta Hirofumi,
Shibuya Masako,
Egawa Jun,
Orime Naoki,
Sora Ichiro,
Someya Toshiyuki
Publication year - 2017
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1111/pcn.12549
Subject(s) - proband , missense mutation , sibling , schizophrenia (object oriented programming) , exome sequencing , pedigree chart , psychosis , exome , medicine , genetics , biology , psychology , psychiatry , gene , mutation , developmental psychology
Aim 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.