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2019


  1. 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, Kubo M, Yamamoto K, Momozawa Y; Ann Rheum Dis 78:1062-1069, 2019
    DOI: 10.1136/annrheumdis-2019-215062   日本語解説: 理研プレスリリース  
  2. Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls.
    Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, et al.; J Natl Cancer Inst, 2019
    DOI: 10.1093/jnci/djz124   日本語解説: 理研プレスリリース  
  3. Evidence of genetic contribution to patellar luxation in Toy Poodle puppies.
    Maeda K, Inoue M, Tanaka M, Momozawa Y; J Vet Med Sci 81:532-537, 2019
    DOI: 10.1292/jvms.18-0485   日本語解説: アニコムニュースリリース  
  4. The potential of translational research in dogs in human medicine.
    Momozawa Y; Translational and Regulatory Sciences 1:31-36, 2019
    DOI: 10.33611/trs.1_31  
  5. Impact of PSCA polymorphisms on the risk of duodenal ulcer.
    Usui Y, Matsuo K, Oze I, Ugai T, Koyanagi Y, Maeda Y, et al.; J Epidemiol, 2019
    DOI: 10.2188/jea.je20190184  
  6. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
    Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, et al.; J Med Genet 56:662-670, 2019
    DOI: 10.1136/jmedgenet-2018-105691   日本語解説: 九州大学NEWS  
  7. Characterizing rare and low-frequency height-associated variants in the Japanese population.
    Akiyama M, Ishigaki K, Sakaue S, Momozawa Y, Horikoshi M, Hirata M, et al.; Nat Commun 10:4393, 2019
    DOI: 10.1038/s41467-019-12276-5   日本語解説: 理研プレスリリース  
  8. 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.
    Takata R, Takahashi A, Fujita M, Momozawa Y, Saunders EJ, Yamada H, et al.; Nat Commun 10:4422, 2019
    DOI: 10.1038/s41467-019-12267-6   日本語解説: 東京大学プレスリリース  
  9. A genome-wide association study of coping behaviors suggests FBXO45 is associated with emotional expression.
    Shimanoe C, Hachiya T, Hara M, Nishida Y, Tanaka K, Sutoh Y, et al.; Genes Brain Behav 18:e12481, 2019
    DOI: 10.1111/gbb.12481  
  10. 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, Hirabayashi S, Nakabayashi K, Ichikawa H, et al.; Haematologica 104:128-137, 2019
    DOI: 10.3324/haematol.2017.186320  
  11. Association Between Genetic Risk and Development of Type 2 Diabetes in a General Japanese Population: The Hisayama Study.
    Inaishi J, Hirakawa Y, Horikoshi M, Akiyama M, Higashioka M, Yoshinari M, et al.; J Clin Endocrinol Metab 104:3213-3222, 2019
    DOI: 10.1210/jc.2018-01782  
  12. Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
    Ikeda M, Takahashi A, Kamatani Y, Momozawa Y, Saito T, Kondo K, et al.; Schizophr Bull 45:824-834, 2019
    DOI: 10.1093/schbul/sby140  
  13. Direct comparison of retinal structure and function in retinitis pigmentosa by co-registering microperimetry and optical coherence tomography.
    Funatsu J, Murakami Y, Nakatake S, Akiyama M, Fujiwara K, Shimokawa S, et al.; PLoS One 14:e0226097, 2019
    DOI: 10.1371/journal.pone.0226097  
  14. GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation.
    Terao C, Momozawa Y, Ishigaki K, Kawakami E, Akiyama M, Loh PR, et al.; Nat Commun 10:4719, 2019
    DOI: 10.1038/s41467-019-12705-5   日本語解説: 理研プレスリリース  
  15. Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.
    Tanikawa C, Kamatani Y, Terao C, Usami M, Takahashi A, Momozawa Y, et al.; J Am Soc Nephrol 30:855-864, 2019
    DOI: 10.1681/asn.2018090942  
  16. A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.
    Takeda K, Kou I, Otomo N, Grauers A, Fan YH, Ogura Y, et al.; J Hum Genet 64:493-498, 2019
    DOI: 10.1038/s10038-019-0575-7  
  17. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.
    Sung YJ, de Las Fuentes L, Winkler TW, Chasman DI, Bentley AR, Kraja AT, et al.; Hum Mol Genet, 2019
    DOI: 10.1093/hmg/ddz070  
  18. A Pharmacogenetic Prediction Model of Progression-Free Survival in Breast Cancer using Genome-Wide Genotyping Data from CALGB 40502 (Alliance).
    Rashkin SR, Chua KC, Ho C, Mulkey F, Jiang C, Mushiroda T, et al.; Clin Pharmacol Ther 105:738-745, 2019
    DOI: 10.1002/cpt.1241  
  19. Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population.
    Otsuka I, Akiyama M, Shirakawa O, Okazaki S, Momozawa Y, Kamatani Y, et al.; Neuropsychopharmacology 44:2119-2124, 2019
    DOI: 10.1038/s41386-019-0506-5  
  20. Genome-wide association meta-analysis and Mendelian randomization analysis confirm the influence of ALDH2 on sleep durationin the Japanese population.
    Nishiyama T, Nakatochi M, Goto A, Iwasaki M, Hachiya T, Sutoh Y, et al.; Sleep 42, 2019
    DOI: 10.1093/sleep/zsz046  
  21. Early detection of cone photoreceptor cell loss in retinitis pigmentosa using adaptive optics scanning laser ophthalmoscopy.
    Nakatake S, Murakami Y, Funatsu J, Koyanagi Y, Akiyama M, Momozawa Y, et al.; Graefes Arch Clin Exp Ophthalmol 257:1169-1181, 2019
    DOI: 10.1007/s00417-019-04307-0  
  22. Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
    Morris AP, Le TH, Wu H, Akbarov A, van der Most PJ, Hemani G, et al.; Nat Commun 10:29, 2019
    DOI: 10.1038/s41467-018-07867-7  
  23. GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture.
    Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, et al.; Nat Hum Behav 3:471-477, 2019
    DOI: 10.1038/s41562-019-0557-y   日本語解説: 理研プレスリリース  
  24. Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population.
    Low SK, Chin YM, Ito H, Matsuo K, Tanikawa C, Matsuda K, et al.; Sci Rep 9:17332, 2019
    DOI: 10.1038/s41598-019-53654-9  
  25. Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
    Kou I, Otomo N, Takeda K, Momozawa Y, Lu HF, Kubo M, et al.; Nat Commun 10:3685, 2019
    DOI: 10.1038/s41467-019-11596-w   日本語解説: 理研プレスリリース  
  26. Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing.
    Kosugi S, Momozawa Y, Liu X, Terao C, Kubo M, Kamatani Y; Genome Biol 20:117, 2019
    DOI: 10.1186/s13059-019-1720-5   日本語解説: 理研プレスリリース  
  27. Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data.
    Kishikawa T, Momozawa Y, Ozeki T, Mushiroda T, Inohara H, Kamatani Y, et al.; Sci Rep 9:1784, 2019
    DOI: 10.1038/s41598-018-38346-0  
  28. Relationships Between Serum Antioxidant and Oxidant Statuses and Visual Function in Retinitis Pigmentosa.
    Ishizu M, Murakami Y, Fujiwara K, Funatsu J, Shimokawa S, Nakatake S, et al.; Invest Ophthalmol Vis Sci 60:4462-4468, 2019
    DOI: 10.1167/iovs.19-26927  
  29. Deep sequencing across germline genome-wide association study signals relating to breast cancer events in women receiving aromatase inhibitors for adjuvant therapy of early breast cancer.
    Ingle JN, Kalari KR, Momozawa Y, Kubo M, Furukawa Y, Shepherd LE, et al.; Pharmacogenet Genomics 29:183-191, 2019
    DOI: 10.1097/fpc.0000000000000382  
  30. A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.
    Iida A, Takeshita E, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, et al.; Hum Genome Var 6:1, 2019
    DOI: 10.1038/s41439-018-0032-8  
  31. 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, Abe-Hatano C, Hirabayashi S, Inaba Y, et al.; Cold Spring Harb Mol Case Stud 5, 2019
    DOI: 10.1101/mcs.a003988  
  32. GWAS analysis reveals a significant contribution of PSCA to the risk of Heliobacter pylori-induced gastric atrophy.
    Hishida A, Ugai T, Fujii R, Nakatochi M, Wu MC, Ito H, et al.; Carcinogenesis 40:661-668, 2019
    DOI: 10.1093/carcin/bgz016  
  33. Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population.
    Hirata J, Hosomichi K, Sakaue S, Kanai M, Nakaoka H, Ishigaki K, et al.; Nat Genet 51:470-480, 2019
    DOI: 10.1038/s41588-018-0336-0   日本語解説: 大阪大学プレスリリース  
  34. Association of genetic risk score and chronic kidney disease in a Japanese population.
    Fujii R, Hishida A, Nakatochi M, Furusyo N, Murata M, Tanaka K, et al.; Nephrology (Carlton) 24:670-673, 2019
    DOI: 10.1111/nep.13479  
  35. Genome-wide association analysis of common genetic variants of resistant hypertension.
    El Rouby N, McDonough CW, Gong Y, McClure LA, Mitchell BD, Horenstein RB, et al.; Pharmacogenomics J 19:295-304, 2019
    DOI: 10.1038/s41397-018-0049-x  
  36. Associations of autozygosity with a broad range of human phenotypes.
    Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, et al.; Nat Commun 10:4957, 2019
    DOI: 10.1038/s41467-019-12283-6  
  37. Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
    Bentley AR, Sung YJ, Brown MR, Winkler TW, Kraja AT, Ntalla I, et al.; Nat Genet 51:636-648, 2019
    DOI: 10.1038/s41588-019-0378-y  
  38. The association of obesity and coronary artery disease genes with response to SSRIs treatment in major depression.
    Amare AT, Schubert KO, Tekola-Ayele F, Hsu YH, Sangkuhl K, Jenkins G, et al.; J Neural Transm (Vienna) 126:35-45, 2019
    DOI: 10.1007/s00702-018-01966-x