Rare truncating variations and risk of schizophrenia: Whole-exome sequencing in three families with affected siblings and a three-stage follow-up study in a Japanese population

Yuichiro Watanabe, Ayako Nunokawa, Masako Shibuya, Masashi Ikeda, Akitoyo Hishimoto, Kenji Kondo, Jun Egawa, Naoshi Kaneko, Tatsuyuki Muratake, Takeo Saito, Satoshi Okazaki, Ayu Shimasaki, Hirofumi Igeta, Emiko Inoue, Satoshi Hoya, Takuro Sugai, Ichiro Sora, Nakao Iwata, Toshiyuki Someya

研究成果: Article

5 引用 (Scopus)

抄録

Rare inherited variations in multiplex families with schizophrenia are suggested to play a role in the genetic etiology of schizophrenia. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in three families, each with two affected siblings. We also performed a three-stage follow-up case-control study in a Japanese population with a total of 2617 patients and 2396 controls. WES identified 15 rare truncating variations that were variously present in the two affected siblings in each family. These variations did not necessarily segregate with schizophrenia within families, and they were different in each family. In the follow-up study, four variations (NWD1 W169X, LCORL R7fsX53, CAMK2B L497fsX497, and C9orf89 Q102X) had a higher mutant allele frequency in patients compared with controls, although these associations were not significant in the combined population, which comprised the first-, second- and third-stage populations. These results do not support a contribution of the rare truncating variations identified in the three families to the genetic etiology of schizophrenia.

元の言語English
ページ(範囲)13-18
ページ数6
ジャーナルPsychiatry Research
235
DOI
出版物ステータスPublished - 01-10-2015

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Siblings
Schizophrenia
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Gene Frequency
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All Science Journal Classification (ASJC) codes

  • Psychiatry and Mental health
  • Biological Psychiatry

これを引用

Watanabe, Yuichiro ; Nunokawa, Ayako ; Shibuya, Masako ; Ikeda, Masashi ; Hishimoto, Akitoyo ; Kondo, Kenji ; Egawa, Jun ; Kaneko, Naoshi ; Muratake, Tatsuyuki ; Saito, Takeo ; Okazaki, Satoshi ; Shimasaki, Ayu ; Igeta, Hirofumi ; Inoue, Emiko ; Hoya, Satoshi ; Sugai, Takuro ; Sora, Ichiro ; Iwata, Nakao ; Someya, Toshiyuki. / Rare truncating variations and risk of schizophrenia : Whole-exome sequencing in three families with affected siblings and a three-stage follow-up study in a Japanese population. :: Psychiatry Research. 2015 ; 巻 235. pp. 13-18.
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abstract = "Rare inherited variations in multiplex families with schizophrenia are suggested to play a role in the genetic etiology of schizophrenia. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in three families, each with two affected siblings. We also performed a three-stage follow-up case-control study in a Japanese population with a total of 2617 patients and 2396 controls. WES identified 15 rare truncating variations that were variously present in the two affected siblings in each family. These variations did not necessarily segregate with schizophrenia within families, and they were different in each family. In the follow-up study, four variations (NWD1 W169X, LCORL R7fsX53, CAMK2B L497fsX497, and C9orf89 Q102X) had a higher mutant allele frequency in patients compared with controls, although these associations were not significant in the combined population, which comprised the first-, second- and third-stage populations. These results do not support a contribution of the rare truncating variations identified in the three families to the genetic etiology of schizophrenia.",
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Watanabe, Y, Nunokawa, A, Shibuya, M, Ikeda, M, Hishimoto, A, Kondo, K, Egawa, J, Kaneko, N, Muratake, T, Saito, T, Okazaki, S, Shimasaki, A, Igeta, H, Inoue, E, Hoya, S, Sugai, T, Sora, I, Iwata, N & Someya, T 2015, 'Rare truncating variations and risk of schizophrenia: Whole-exome sequencing in three families with affected siblings and a three-stage follow-up study in a Japanese population', Psychiatry Research, 巻. 235, pp. 13-18. https://doi.org/10.1016/j.psychres.2015.12.011

Rare truncating variations and risk of schizophrenia : Whole-exome sequencing in three families with affected siblings and a three-stage follow-up study in a Japanese population. / Watanabe, Yuichiro; Nunokawa, Ayako; Shibuya, Masako; Ikeda, Masashi; Hishimoto, Akitoyo; Kondo, Kenji; Egawa, Jun; Kaneko, Naoshi; Muratake, Tatsuyuki; Saito, Takeo; Okazaki, Satoshi; Shimasaki, Ayu; Igeta, Hirofumi; Inoue, Emiko; Hoya, Satoshi; Sugai, Takuro; Sora, Ichiro; Iwata, Nakao; Someya, Toshiyuki.

:: Psychiatry Research, 巻 235, 01.10.2015, p. 13-18.

研究成果: Article

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T1 - Rare truncating variations and risk of schizophrenia

T2 - Whole-exome sequencing in three families with affected siblings and a three-stage follow-up study in a Japanese population

AU - Watanabe, Yuichiro

AU - Nunokawa, Ayako

AU - Shibuya, Masako

AU - Ikeda, Masashi

AU - Hishimoto, Akitoyo

AU - Kondo, Kenji

AU - Egawa, Jun

AU - Kaneko, Naoshi

AU - Muratake, Tatsuyuki

AU - Saito, Takeo

AU - Okazaki, Satoshi

AU - Shimasaki, Ayu

AU - Igeta, Hirofumi

AU - Inoue, Emiko

AU - Hoya, Satoshi

AU - Sugai, Takuro

AU - Sora, Ichiro

AU - Iwata, Nakao

AU - Someya, Toshiyuki

PY - 2015/10/1

Y1 - 2015/10/1

N2 - Rare inherited variations in multiplex families with schizophrenia are suggested to play a role in the genetic etiology of schizophrenia. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in three families, each with two affected siblings. We also performed a three-stage follow-up case-control study in a Japanese population with a total of 2617 patients and 2396 controls. WES identified 15 rare truncating variations that were variously present in the two affected siblings in each family. These variations did not necessarily segregate with schizophrenia within families, and they were different in each family. In the follow-up study, four variations (NWD1 W169X, LCORL R7fsX53, CAMK2B L497fsX497, and C9orf89 Q102X) had a higher mutant allele frequency in patients compared with controls, although these associations were not significant in the combined population, which comprised the first-, second- and third-stage populations. These results do not support a contribution of the rare truncating variations identified in the three families to the genetic etiology of schizophrenia.

AB - Rare inherited variations in multiplex families with schizophrenia are suggested to play a role in the genetic etiology of schizophrenia. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in three families, each with two affected siblings. We also performed a three-stage follow-up case-control study in a Japanese population with a total of 2617 patients and 2396 controls. WES identified 15 rare truncating variations that were variously present in the two affected siblings in each family. These variations did not necessarily segregate with schizophrenia within families, and they were different in each family. In the follow-up study, four variations (NWD1 W169X, LCORL R7fsX53, CAMK2B L497fsX497, and C9orf89 Q102X) had a higher mutant allele frequency in patients compared with controls, although these associations were not significant in the combined population, which comprised the first-, second- and third-stage populations. These results do not support a contribution of the rare truncating variations identified in the three families to the genetic etiology of schizophrenia.

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