Tohoku University Tohoku Medical Megabank Organization (Nobuo Fuse)
2021.03.05

1.   Saito Sakae, Aoki Yuichi, Tamahara Toru, et al. Oral Microbiome Analysis in Prospective Genome Cohort Studies of the Tohoku Medical Megabank Project. Frontiers in Cellular and Infection Microbiology. 2021; 10 : . doi:10.3389/fcimb.2020.604596  
2.   Nagaoka Shinichi, Yamaguchi-Kabata Yumi, Shiga Naomi, et al. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals. Human Genome Variation. 2021; 8 (1): 2. doi:10.1038/s41439-020-00133-7  
3.   Hozawa Atsushi, Tanno Kozo, Nakaya Naoki, et al. Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study. Journal of Epidemiology. 2021; 31 (1): 65-76. doi:10.2188/jea.JE20190271  
4.   Tokunaga Hideki, Iida Keita, Hozawa Atsushi, et al. Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). PLOS ONE. 2021; 16 (1): e0236907. doi:10.1371/journal.pone.0236907  
5.   Yanagisawa Michiko, Namekata Kazuhiko, Aida Tomomi, et al. EAAT1 variants associated with glaucoma. Biochemical and Biophysical Research Communications. 2020; 529 (4): 943-949. doi:10.1016/j.bbrc.2020.06.099  
6.   Koshiba Seizo, Motoike Ikuko N., Saigusa Daisuke, et al. Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population. Communications Biology. 2020; 3 (1): 662. doi:10.1038/s42003-020-01383-5  
7.   Kuriyama Shinichi, Metoki Hirohito, Kikuya Masahiro, et al. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective. International Journal of Epidemiology. 2020; 49 (1): 18-19m. doi:10.1093/ije/dyz169  
8.   Sugawara Junichi, Ishikuro Mami, Obara Taku, et al. Maternal Baseline Characteristics and Perinatal Outcomes: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Journal of Epidemiology. 2020; : . doi:10.2188/jea.JE20200338  
9.   Lin Yingsong, Nakatochi Masahiro, Hosono Yasuyuki, et al. Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. Nature Communications. 2020; 11 (1): 3175. doi:10.1038/s41467-020-16711-w  
10.   Komatsu Hiroshi, Takeuchi Hikaru, Kikuchi Yoshie, et al. Ethnicity-Dependent Effects of Schizophrenia Risk Variants of the OLIG2 Gene on OLIG2 Transcription and White Matter Integrity. Schizophrenia Bulletin. 2020; 46 (6): 1619-1628. doi:10.1093/schbul/sbaa049  
11.   Sakai Kensuke, Tanikawa Chizu, Hirasawa Akira, et al. Identification of a novel uterine leiomyoma GWAS locus in a Japanese population. Scientific Reports. 2020; 10 (1): 1197. doi:10.1038/s41598-020-58066-8  
12.   Tsuboi Akito, Matsui Hiroyuki, Shiraishi Naru, et al. Design and Progress of Oral Health Examinations in the Tohoku Medical Megabank Project. The Tohoku Journal of Experimental Medicine. 2020; 251 (2): 97-115. doi:10.1620/tjem.251.97  
13.   Sugawara Junichi, Ochi Daisuke, Yamashita Riu, et al. Maternity Log study: a longitudinal lifelog monitoring and multiomics analysis for the early prediction of complicated pregnancy. BMJ Open. 2019; 9 (2): e025939. doi:10.1136/bmjopen-2018-025939  
14.   Yamaguchi-Kabata Yumi, Yasuda Jun, Uruno Akira, et al. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. Human Genetics. 2019; 138 (4): 389-409. doi:10.1007/s00439-019-01998-7  
15.   Tadaka Shu, Katsuoka Fumiki, Ueki Masao, et al. 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. Human Genome Variation. 2019; 6 (1): 28. doi:10.1038/s41439-019-0059-5  
16.   Nagasaki Masao, Kuroki Yoko, Shibata Tomoko F., et al. Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing. Human Genome Variation. 2019; 6 (1): 27. doi:10.1038/s41439-019-0057-7  
17.   Fuse Nobuo, Sakurai-Yageta Mika, Katsuoka Fumiki, et al. Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project. JMA Journal. 2019; 2 (2): 113-122. doi:10.31662/jmaj.2019-0014  
18.   Kiniwa Yukiko, Yasuda Jun, Saito Sakae, et al. Identification of genetic alterations in extramammary Paget disease using whole exome analysis. Journal of Dermatological Science. 2019; 94 (1): 229-235. doi:10.1016/j.jdermsci.2019.03.006  
19.   Nikopoulos Konstantinos, Cisarova Katarina, Quinodoz Mathieu, et al. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications. 2019; 10 (1): 2884. doi:10.1038/s41467-019-10746-4  
20.   Yasuda Jun, Kinoshita Kengo, Katsuoka Fumiki, et al. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. The Journal of Biochemistry. 2019; 165 (2): 139-158. doi:10.1093/jb/mvy096  
21.   Mimori Takahiro, Yasuda Jun, Kuroki Yoko, et al. Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing. The Pharmacogenomics Journal. 2019; 19 (2): 136-146. doi:10.1038/s41397-017-0010-4  
22.   Yasuda Jun, Katsuoka Fumiki, Danjoh Inaho, et al. Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project. BMC Genomics. 2018; 19 (1): 551. doi:10.1186/s12864-018-4942-0  
23.   Tanikawa Chizu, Kamatani Yoichiro, Toyoshima Osamu, et al. Genome‐wide association study identifies gastric cancer susceptibility loci at 12q24.11‐12 and 20q11.21. Cancer Science. 2018; 109 (12): 4015-4024. doi:10.1111/cas.13815  
24.   Koshiba Seizo, Motoike Ikuko, Saigusa Daisuke, et al. Omics research project on prospective cohort studies from the Tohoku Medical Megabank Project. Genes to Cells. 2018; 23 (6): 406-417. doi:10.1111/gtc.12588  
25.   Shiga Yukihiro, Akiyama Masato, Nishiguchi Koji M, et al. Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. Human Molecular Genetics. 2018; 27 (8): 1486-1496. doi:10.1093/hmg/ddy053  
26.   Kanaya Akihiro, Sato Toshihiro, Fuse Nobuo, et al. Impact of clinical factors and UGT1A9 and CYP2B6 genotype on inter-individual differences in propofol pharmacokinetics. Journal of Anesthesia. 2018; 32 (2): 236-243. doi:10.1007/s00540-018-2470-3  
27.   Yamaguchi-Kabata Yumi, Yasuda Jun, Tanabe Osamu, et al. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. Journal of Human Genetics. 2018; 63 (2): 213-230. doi:10.1038/s10038-017-0347-1  
28.   Yodsurang Varalee, Tang Yaqi, Takahashi Yukie, et al. Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1. PLOS ONE. 2018; 13 (12): e0209096. doi:10.1371/journal.pone.0209096  
29.   Pan Xiaoqing, Nariai Naoki, Fukuhara Noriko, et al. Monitoring of minimal residual disease in early T‐cell precursor acute lymphoblastic leukaemia by next‐generation sequencing. British Journal of Haematology. 2017; 176 (2): 318-321. doi:10.1111/bjh.13948  
30.   Matsuura Kentaro, Sawai Hiromi, Ikeo Kazuho, et al. Genome-Wide Association Study Identifies TLL1 Variant Associated With Development of Hepatocellular Carcinoma After Eradication of Hepatitis C Virus Infection. Gastroenterology. 2017; 152 (6): 1383-1394. doi:10.1053/j.gastro.2017.01.041  
31.   Hamanaka Teruhiko, Kimura Masae, Sakurai Tetsuro, et al. A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients. Investigative Opthalmology & Visual Science. 2017; 58 (5): 2818. doi:10.1167/iovs.16-20646  
32.   Hachiya Tsuyoshi, Furukawa Ryohei, Shiwa Yuh, et al. Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies. npj Genomic Medicine. 2017; 2 (1): 11. doi:10.1038/s41525-017-0016-5  
33.   Shiga Yukihiro, Nishiguchi Koji M., Kawai Yosuke, et al. Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7. PLOS ONE. 2017; 12 (12): e0186678. doi:10.1371/journal.pone.0186678  
34.   Nakano Tadashi, Mizoue Shiro, Fuse Nobuo, et al. Fixed combination of travoprost and timolol maleate reduces intraocular pressure in Japanese patients with primary open-angle glaucoma or ocular hypertension: analysis by prostaglandin analogue. Clinical Ophthalmology. 2016; Volume 11 : 55-61. doi:10.2147/OPTH.S120639  
35.   Kuriyama Shinichi, Yaegashi Nobuo, Nagami Fuji, et al. The Tohoku Medical Megabank Project: Design and Mission. Journal of Epidemiology. 2016; 26 (9): 493-511. doi:10.2188/jea.JE20150268  
36.   Koshiba Seizo, Motoike Ikuko, Kojima Kaname, et al. The structural origin of metabolic quantitative diversity. Scientific Reports. 2016; 6 (1): 31463. doi:10.1038/srep31463  
37.   Nakano Tadashi, Mizoue Shiro, Fuse Nobuo, et al. Fixed Combination of Travoprost and Timolol Maleate Reduces Intraocular Pressure in Japanese Patients with Primary Open-Angle Glaucoma or Ocular Hypertension: A Prospective Multicenter Open-Label Study. Advances in Therapy. 2015; 32 (9): 823-837. doi:10.1007/s12325-015-0246-9  
38.   Li Zheng, Allingham R. Rand, Nakano Masakazu, et al. A common variant near TGFBR3 is associated with primary open angle glaucoma. Human Molecular Genetics. 2015; 24 (13): 3880-3892. doi:10.1093/hmg/ddv128  
39.   Nagasaki Masao, Yasuda Jun, Katsuoka Fumiki, et al. Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. Nature Communications. 2015; 6 (1): 8018. doi:10.1038/ncomms9018  
40.   Miyashita Masako, Kikuya Masahiro, Yamanaka Chizuru, et al. Eczema and Asthma Symptoms among Schoolchildren in Coastal and Inland Areas after the 2011 Great East Japan Earthquake: The ToMMo Child Health Study. The Tohoku Journal of Experimental Medicine. 2015; 237 (4): 297-305. doi:10.1620/tjem.237.297  
41.   Kikuya Masahiro, Miyashita Masako, Yamanaka Chizuru, et al. Protocol and Research Perspectives of the ToMMo Child Health Study after the 2011 Great East Japan Earthquake. The Tohoku Journal of Experimental Medicine. 2015; 236 (2): 123-130. doi:10.1620/tjem.236.123  
42.   Motoike Ikuko N, Matsumoto Mitsuyo, Danjoh Inaho, et al. Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population. BMC Genomics. 2014; 15 (1): 673. doi:10.1186/1471-2164-15-673  
43.   Mizoue Shiro, Nakano Tadashi, Fuse Nobuo, et al. Travoprost with sofZia® preservative system lowered intraocular pressure of Japanese normal tension glaucoma with minimal side effects. Clinical Ophthalmology. 2014; 8 : 347. doi:10.2147/OPTH.S57640  
44.   Kunikata Hiroshi, Aizawa Naoko, Fuse Nobuo, et al. 25-Gauge Microincision Vitrectomy to Treat Vitreoretinal Disease in Glaucomatous Eyes after Trabeculectomy. Journal of Ophthalmology. 2014; 2014 : 1-8. doi:10.1155/2014/306814  
45.   Shi Dong, Takano Yoshimasa, Nakazawa Toru, et al. Molecular genetic analysis of primary open-angle glaucoma, normal tension glaucoma, and developmental glaucoma for the VAV2 and VAV3 gene variants in Japanese subjects. Biochemical and Biophysical Research Communications. 2013; 432 (3): 509-512. doi:10.1016/j.bbrc.2013.02.003  
46.   Tamai Hiroshi, Ishida Kazuyuki, Murakami Kensuke, et al. Compression neuropathy caused by cancer metastasis to the optic nerve canal. BMC Research Notes. 2013; 6 (1): 546. doi:10.1186/1756-0500-6-546  
47.   Shi Dong, Funayama Tomoyo, Mashima Yukihiko, et al. Association of HK2 and NCK2 with Normal Tension Glaucoma in the Japanese Population. PLoS ONE. 2013; 8 (1): e54115. doi:10.1371/journal.pone.0054115  
48.   布施 昇男、清水 愛、木村 雅恵、高野 良真、石 棟、宮澤 晃子、国松 志保、劉 孟林、渡邊 亮、安田 正幸、横山 悠、檜森 紀子、津田 聡、山本 耕太郎、中澤 徹、安田 純、勝岡 史城、小島 要、成相 直樹、松本 光代、元池 育子、長崎 正朗、木下 賢吾、五十嵐 和彦、山本 雅之、新堀 哲也、青木 洋子、松原 洋一、舟山 亮、長嶋 剛史、中山 啓子、眞島 行彦、舟山 智代、田中 光一、原田 高幸、阿部 春樹、福地 健郎、安田 典子、出田 秀尚、鄭 暁東、白石 敦、大橋 祐一、石田 誠夫、原 岳、金森 章. 緑内障のゲノム解析―次世代医療•個別化医療に向けて. 日本眼科学会雑誌. 2013; 118 ((3)): 216-240.  
49.   Takano Yoshimasa, Shi Dong, Shimizu Ai, et al. Association of Toll-like Receptor 4 Gene Polymorphisms in Japanese Subjects With Primary Open-Angle, Normal-Tension, and Exfoliation Glaucoma. American Journal of Ophthalmology. 2012; 154 (5): 825-832.e1. doi:10.1016/j.ajo.2012.03.050