Grouping by brain network for tailor-made intervention of autism spectrum disorders

• Project/Area Number: 25670511
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Niigata University
• Principal Investigator: Someya Toshiyuki 新潟大学, 医歯学系, 教授 (50187902)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2014: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 自閉スペクトラム症 / 疫学研究 / 分子遺伝研究 / 脳イメージング / 拡散テンソル画像 / 自閉スペクトラム症(ASD) / 脳イメージング研究 / 分子遺伝学研究 / 脳磁図（MEG） / 自閉症スペクトラム障害 / 全エクソン解析 / 脳機能画像研究 / 脳磁図 / 脳画像研究

Outline of Final Research Achievements

Rates of children with doubt of Autism spectrum disorder (ASD), in medical examination at the time of entering school, were 2.0% (45/2937) in Niigata city. As a risk factor of ASD, we identified a family history of mental disorders. In our imaging study using diffusion tensor imaging, we found a significant Fractional anisotropy (FA) decrease in thalamus-fornix region and increase in left middle cerebellar peduncle in the ASD group. “Switching of attention” score, which is a subscale score of Autism-spectrum Quotient (AQ), was correlated negatively with FA. In our molecular genetic study, to investigate the role of rare variations, we performed whole-exome sequencing (WES) with affected siblings. Ｗe identified rare risk candidate genes for ASD　(2015 PLoS One; 2015 Psychiatry Res) .

Research Products

• [Journal Article] Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population. (2016)
  • Author(s): Takasaki Y, Koide T, Wang C, Kimura H, Xing J, Kushima I, Ishizuka K, Mori D, Sekiguchi M, Ikeda M, Aizawa M, Tsurumaru N, Iwayama Y, Yoshimi A, Arioka Y, Yoshida M, Noma H, Oya-Ito T, Nakamura Y, Kunimoto S, Aleksic B, Uno Y, Okada T, Ujike H, Egawa J, Kuwabara H, Someya T, Yoshikawa T, Iwata N, Ozaki N
  • Journal Title: Scientific Reports Volume: 6 Issue: 1 Pages: 33311-33311
  • DOI: 10.1038/srep33311
  • Peer Reviewed / Open Access
• [Journal Article] Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. (2015)
  • Author(s): 染矢俊幸
  • Journal Title: PLoS One. Volume: 10(12) Issue: 12 Pages: e0144624-e0144624
  • DOI: 10.1371/journal.pone.0144624
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study. (2015)
  • Author(s): 染矢俊幸
  • Journal Title: Psychiatry Res. Volume: 229(1-2) Issue: 1-2 Pages: 599-601
  • DOI: 10.1016/j.psychres.2015.07.018
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] ストレス関連障害を示す発達障害 (2015)
  • Author(s): 染矢俊幸
  • Journal Title: ストレス科学研究 Volume: 30 Pages: 10-15
  • NAID: 130005119959
• [Journal Article] Rare heterozygous truncating variations and risk of autism spectrum disorder: whole-exome sequencing of a multiplex family and follow-up study in a Japanese population. (2015)
  • Author(s): Inoue E, Watanabe Y, Egawa J, Sugimoto A, Nunokawa A, Shibuya M, Igeta H, Someya T
  • Journal Title: Psychiatry Clin Neurosci Volume: epub Issue: 8 Pages: 472-476
  • DOI: 10.1111/pcn.12274
  • Peer Reviewed
• [Journal Article] Novel rare missense variations and risk of autism spectrum disorder: Whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population. (2015)
  • Author(s): Egawa J, Watanabe Y, Wang C, Inoue E, Sugimoto A, Sugiyama T, Igeta H, Nunokawa A, Shibuya M, Kushima I, Orime N, Hayashi T, Okada T, Uno Y, Ozaki N, Someya T
  • Journal Title: PLoS One Volume: 10(3) Issue: 3 Pages: e0119413-e0119413
  • DOI: 10.1371/journal.pone.0119413
  • Peer Reviewed / Open Access
• [Journal Article] Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population. (2015)
  • Author(s): Egawa J, Watanabe Y, Shibuya M, Endo T, Sugimoto A, Igeta H, Nunokawa A, Inoue E, Someya T
  • Journal Title: Psychiatry Clin Neurosci Volume: 69(3) Issue: 3 Pages: 131-135
  • DOI: 10.1111/pcn.12205
  • Peer Reviewed
• [Journal Article] Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders (2014)
  • Author(s): Egawa J, Watanabe Y, Endo T, Kitamura H, Someya T
  • Journal Title: Psychiatry Clin Neurosci Volume: 68 Issue: 1 Pages: 83-83
  • DOI: 10.1111/pcn.12087
  • Peer Reviewed
• [Journal Article] Altered activity of the primary visual area during gaze processing in individuals with high-functioning autistic spectrum disorder: A magnetoencephalography study (2013)
  • Author(s): Hasegawa N, Kitamura H, Murakami H, et al.
  • Journal Title: Neuropsychobiology Volume: 68 Issue: 3 Pages: 181-188
  • DOI: 10.1159/000354866
  • Peer Reviewed
• [Journal Article] Neural activity in the posterior superior temporal region during eye contact perception correlates with autistic traits (2013)
  • Author(s): Hasegawa N, Kitamura H, Murakami H, et al.
  • Journal Title: Neurosci Lett Volume: 549 Pages: 45-50
  • DOI: 10.1016/j.neulet.2013.05.067
  • Peer Reviewed
• [Journal Article] Association of rs2129575 in the tryptophan hydroxylase 2 gene with clinical phenotypes of autism spectrum disorders. (2013)
  • Author(s): Egawa J, Watanabe Y, Endo T, Someya T
  • Journal Title: Psychiatry Clin Neurosci. Volume: 67(6) Issue: 6 Pages: 457-458
  • DOI: 10.1111/pcn.12080
  • Peer Reviewed
• [Journal Article] Oxytocin receptor (OXTR) gene and risk of schizophrenia: Case-control and family-based analyses and meta-analysis in a Japanese population (2012)
  • Author(s): Watanabe, Y., Kaneko, N., Nunokawa, A., Shibuya, M., Egawa, J., Someya, T.
  • Journal Title: Psychiatry and Clinical Neurosciences Volume: 66 Issue: 1 Pages: 622-622
  • DOI: 10.1016/j.psychres.2012.11.007
  • Peer Reviewed
• [Presentation] Resequencing and association analysis of CLN8 with autism spectrum disorder in a Japanese population. (2016)
  • Author(s): 染矢俊幸
  • Organizer: 22nd World Congress of the International Association for Child and Adolescent Psychiatry and Allied Professions
  • Place of Presentation: Calgary CANADA
  • Year and Date: 2016-09-21
  • Int'l Joint Research
• [Presentation] 自閉スペクトラム症罹患一卵性双生児を含む家系におけるエクソームシークエンスおよびフォローアップ解析. (2016)
  • Author(s): 染矢俊幸
  • Organizer: 第38回日本生物学的精神医学会・第59回日本神経化学会大会
  • Place of Presentation: 福岡国際会議場（福岡県福岡市）
  • Year and Date: 2016-09-10
• [Presentation] Rare missense variations and risk of autism: Whole-exome sequencing in affected sib-pair families. (2016)
  • Author(s): 染矢俊幸
  • Organizer: 第38回日本生物学的精神医学会・第59回日本神経化学会大会
  • Place of Presentation: 福岡国際会議場（福岡県福岡市）
  • Year and Date: 2016-09-08
  • Invited
• [Presentation] 自閉スペクトラム症におけるCLN8遺伝子のリシークエンスおよび関連解析. (2016)
  • Author(s): 染矢俊幸
  • Organizer: 第38回日本生物学的精神医学会・第59回日本神経化学会大会
  • Place of Presentation: 福岡国際会議場（福岡県福岡市）
  • Year and Date: 2016-09-08
• [Presentation] 自閉スペクトラム症(DSM-5)診断における自閉症スペクトラム指数の有用性 (2016)
  • Author(s): 染矢俊幸
  • Organizer: 第36回日本精神科診断学会
  • Place of Presentation: 順天堂大学（東京都文京区）
  • Year and Date: 2016-08-05
• [Presentation] 自閉スペクトラム症罹患同胞2家系のエクソーム解析および2段階フォローアップ解析 (2015)
  • Author(s): 染矢俊幸
  • Organizer: 第45回日本神経精神薬理学会･第37回日本生物学的精神医学会合同年会
  • Place of Presentation: タワーホール船堀（東京都江戸川区）
  • Year and Date: 2015-09-25
• [Presentation] 自閉スペクトラム症多発罹患家系の全エクソームシーケンスおよびフォローアップ研究. (2015)
  • Author(s): 染矢俊幸
  • Organizer: 第45回日本神経精神薬理学会･第37回日本生物学的精神医学会合同年会
  • Place of Presentation: タワーホール船堀（東京都江戸川区）
  • Year and Date: 2015-09-25
• [Presentation] Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population. (2015)
  • Author(s): 染矢俊幸
  • Organizer: 8th Congress of The Asian Society for Child and Adolescent Psychiatry and Allied Professions
  • Place of Presentation: Kuala Lumpur, Malaysia
  • Year and Date: 2015-08-19
  • Int'l Joint Research
• [Presentation] 自閉症スペクトラム障害におけるオキシトシン受容体遺伝子のエクソンリシーケンスおよび関連解析. (2014)
  • Author(s): 江川純, 杉本篤言, 遠藤太郎, 染矢俊幸
  • Organizer: 第55回日本児童青年精神医学会
  • Place of Presentation: アクトシティ浜松（静岡県浜松市）
  • Year and Date: 2014-10-11 – 2014-10-13
• [Presentation] Association between OXTR and clinical phenotypes of autism spectrum disorders.
  • Author(s): Egawa J, Watanabe Y, Endo T, Tamura R, Masuzawa N, Someya T
  • Organizer: 11th World Congress of Biological Psychiatry
  • Place of Presentation: Kyoto
• [Presentation] Neural activity in the posterior superior temporal region during eye contact perception is correlated with autistic traits.
  • Author(s): Hasegawa N, Kitamura H, Murakami H, Kameyama S, Sasagawa M, Egawa J, Endo T, Someya T
  • Organizer: 11th World Congress of Biological Psychiatry
  • Place of Presentation: Kyoto
• [Presentation] 自閉症スペクトラム障害の視線認知特性: 脳磁図による計測.
  • Author(s): 長谷川直哉, 北村秀明, 村上博淳, 亀山茂樹, 江川純, 染矢俊幸
  • Organizer: 第28回日本生体磁気学会
  • Place of Presentation: 新潟
  • Invited
• [Presentation] 自閉症スペクトラム障害におけるオキシトシン受容体遺伝子と右内側側頭葉N-アセチルアスパラギン酸との関連研究.
  • Author(s): 江川純, 遠藤太郎, 杉本篤言, 染矢俊幸
  • Organizer: 第54回日本児童青年精神医学会
  • Place of Presentation: 札幌
• [Presentation] トリプトファン水酸化酵素2遺伝子多型rs2129575の自閉症スペクトラム障害の臨床表現型への影響について.
  • Author(s): 林剛丞, 江川純, 遠藤太郎, 田村立, 杉本篤言, 染矢俊幸
  • Organizer: 第54回日本児童青年精神医学会
  • Place of Presentation: 札幌
• [Presentation] スクリーニング尺度としての自閉症スペクトラム指数の再検討.
  • Author(s): 江川純, 北村秀明, 林剛丞, 染矢俊幸
  • Organizer: 第33回日本精神科診断学会
  • Place of Presentation: 大津