研究成果・広報活動
研究成果一覧
学術論文 2019年
Characterizing rare and low-frequency height-associated variants in the Japanese population.
Akiyama M, Ishigaki K, Sakaue S, et al. Characterizing rare and low-frequency height-associated variants in the Japanese population. Nat Commun. 2019;10(1):4393-019-12276-5. doi: 10.1038/s41467-019-12276-5.
Associations of autozygosity with a broad range of human phenotypes.
Clark DW, Okada Y, Moore KHS, et al. Associations of autozygosity with a broad range of human phenotypes. Nat Commun. 2019;10(1):4957-019-12283-6. doi: 10.1038/s41467-019-12283-6.
Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles.
Degenhardt F, Wendorff M, Wittig M, et al. Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles. Hum Mol Genet. 2019;28(12):2078-2092. doi: 10.1093/hmg/ddy443.
Genetically Determined Levels of Circulating Cytokines and Risk of Stroke.
Georgakis MK, Gill D, Rannikmae K, et al. Genetically determined levels of circulating cytokines and risk of stroke. Circulation. 2019;139(2):256-268. doi: 10.1161/CIRCULATIONAHA.118.035905.
HLA-B*51:01 and CYP2C9*3 Are Risk Factors for Phenytoin-Induced Eruption in the Japanese Population: Analysis of Data From the Biobank Japan Project.
Hikino K, Ozeki T, Koido M, et al. HLA-B*51:01 and CYP2C9*3 Are Risk Factors for Phenytoin-Induced Eruption in the Japanese Population: Analysis of Data From the Biobank Japan Project. Clin Pharmacol Ther. 2019. doi: 10.1002/cpt.1706.
Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project.
Hikino K, Ozeki T, Koido M, et al. Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project. J Hum Genet. 2019;64(12):1195-1202. doi: 10.1038/s10038-019-0677-2.
Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population.
Hirata J, Hosomichi K, Sakaue S, et al. Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population. Nat Genet. 2019;51(3):470-480. doi: 10.1038/s41588-018-0336-0.
12 New Susceptibility Loci for Prostate Cancer Identified by Genome-wide Association Study in Japanese Population
Ryo Takata, Atsushi Takahashi, Masashi Fujita, Yukihide Momozawa, Ed Saunders, Hiroki Yamada, Kazihiro Maejima, Kaoru Nakano, Yuichiro Nishida, Asahi Hishida, Keitaro Matsuo, Kenji Wakai, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Shoichiro Tsugane, Makoto Sasaki, Atsushi Shimizu, Kozo Tanno, Naoko Minegishi, Kichiya Suzuki, Koichi Matsuda, Michiaki Kubo, Johji Inazawa, Shin Egawa, Christopher Haiman, Osamu Ogawa, Wataru Obara, Yoichiro Kamatani, Shusuke Akamatsu, and Hidewaki Nakagawa
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A, Takano K, Takeshita E, et al. A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: Case report and review of the literature. Cold Spring Harb Mol Case Stud. 2019;5(6):10.1101/mcs.a003988. Print 2019 Dec. doi: 10.1101/mcs.a003988.
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.
Iida A, Takeshita E, Kosugi S, et al. A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. Hum Genome Var. 2018;6:1-018-0032-8. eCollection 2019. doi: 10.1038/s41439-018-0032-8.
Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
Ikeda M, Takahashi A, Kamatani Y, et al. Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. Schizophr Bull. 2019;45(4):824-834. doi: 10.1093/schbul/sby140.
Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data.
Kishikawa T, Momozawa Y, Ozeki T, et al. Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data. Sci Rep. 2019;9(1):1784-018-38346-0. doi: 10.1038/s41598-018-38346-0.
Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias.
Kojima Y, Koguchi T, Mizuno K, et al. Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias. J Urol. 2019;201(2):386-392. doi: 10.1016/j.juro.2018.07.050.
Comparative genetic architectures of schizophrenia in East Asian and European populations.
Lam M, Chen CY, Li Z, et al. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nat Genet. 2019;51(12):1670-1678. doi: 10.1038/s41588-019-0512-x.
Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study.
Larsson SC, Traylor M, Burgess S, et al. Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study. Neurology. 2019;92(9):e944-e950. doi: 10.1212/WNL.0000000000007001.
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, et al. Polygenic burden in focal and generalized epilepsies. Brain. 2019;142(11):3473-3481. doi: 10.1093/brain/awz292.
Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population.
Low SK, Chin YM, Ito H, et al. Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population. Sci Rep. 2019;9(1):17332-019-53654-9. doi: 10.1038/s41598-019-53654-9.
Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls.
Momozawa Y, Iwasaki Y, Hirata M, et al. Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls. J Natl Cancer Inst. 2019. doi: 10.1093/jnci/djz124.
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
Morris AP, Le TH, Wu H, et al. Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. Nat Commun. 2019;10(1):29-018-07867-7. doi: 10.1038/s41467-018-07867-7.
Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling.
Motegi T, Kochi Y, Matsuda K, et al. Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling. Ann Rheum Dis. 2019;78(8):1062-1069. doi: 10.1136/annrheumdis-2019-215062.
Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion.
Ohki K, Kiyokawa N, Saito Y, et al. Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion. Haematologica. 2019;104(1):128-137. doi: 10.3324/haematol.2017.186320.
Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis.
Okazaki S, Morimoto T, Kamatani Y, et al. Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis. Circulation. 2019;139(2):295-298. doi: 10.1161/CIRCULATIONAHA.118.038439.
Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.
Pollack S, Igo RP,Jr, Jensen RA, et al. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes. 2019;68(2):441-456. doi: 10.2337/db18-0567.
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
Schmit SL, Edlund CK, Schumacher FR, et al. Novel Common Genetic Susceptibility Loci for Colorectal Cancer. J Natl Cancer Inst. 2019;111(2):146-157. doi: 10.1093/jnci/djy099.
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
Suzuki K, Akiyama M, Ishigaki K, et al. Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. Nat Genet. 2019;51(3):379-386. doi: 10.1038/s41588-018-0332-4.
12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.
Takata R, Takahashi A, Fujita M, et al. 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. Nat Commun. 2019;10(1):4422-019-12267-6. doi: 10.1038/s41467-019-12267-6.
Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection.
Takeuchi F, Kukimoto I, Li Z, et al. Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection. Hum Mol Genet. 2019;28(2):341-348. doi: 10.1093/hmg/ddy390.
GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation.
Terao C, Momozawa Y, Ishigaki K, et al. GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation. Nat Commun. 2019;10(1):4719-019-12705-5. doi: 10.1038/s41467-019-12705-5.
Genetic predisposition to mosaic Y chromosome loss in blood.
Thompson DJ, Genovese G, Halvardson J, et al. Genetic predisposition to mosaic Y chromosome loss in blood. Nature. 2019;575(7784):652-657. doi: 10.1038/s41586-019-1765-3.
Genetic and phenotypic landscape of the MHC region in the Japanese population.
un Hirata1,2, Kazuyoshi Hosomichi3, Saori Sakaue1,4,5, Masahiro Kanai1,4,6, Hirofumi Nakaoka7, Kazuyoshi Ishigaki4, Ken Suzuki1,4,8, Masato Akiyama4,9, Toshihiro Kishikawa1,10, Kotaro Ogawa1,11, Tatsuo Masuda 1,12, Kenichi Yamamoto1,13, Makoto Hirata14, Koichi Matsuda15, Yukihide Momozawa16, Ituro Inoue7, Michiaki Kubo17, Yoichiro Kamatani4,18, Yukinori Okada1,4,19,*.
GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture
Nana Matoba, Masato Akiyama, Kazuyoshi Ishigaki, Masahiro Kanai, Atsushi Takahashi, Yukihide Momozawa, Shiro Ikegawa, Masashi Ikeda, Nakao Iwata, Makoto Hirata, Koichi Matsuda, Michiaki Kubo, Yukinori Okada and Yoichiro Kamatani.
