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2023

  1. Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer
    Usui Y., Taniyama Y., Endo M., Koyanagi Y. N., Kasugai Y., Oze I., et al.; N Engl J Med 388(13):1181-1190, 2023
    DOI: 10.1056/NEJMoa2211807 　 日本語解説: 理研プレスリリース 　
  2. Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer. Reply
    Usui Y., Matsuo K., Momozawa Y.; N Engl J Med 389(4):379-381, 2023
    DOI: 10.1056/NEJMc2306877
  3. Personalized medicine with germline pathogenic variants: Importance of population- and region-wide evidence
    Usui Y., Momozawa Y.; Cancer Sci 114(10):3816-3824, 2023
    DOI: 10.1111/cas.15922
  4. Development of a high-throughput screening method for the detection of 188 pathogenic variants and its application in Mishima cattle
    Shibutani S.+, Endo M.+, Mizukami K., Hosoi E., Sakai Y., Taniguchi M., et al.; Anim Genet 54(3):416-417, 2023
    DOI: 10.1111/age.13301
  5. Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer.
    Okawa Y, Iwasaki Y, Johnson TA, Ebata N, Inai C, Endo M, et al.; J Hepatol 78:333-342, 2023
    DOI: 10.1016/j.jhep.2022.09.025 　 日本語解説: 理研プレスリリース 　
  6. Genetic variations predicting progression with docetaxel and novel androgen-receptor pathway inhibitors.
    Shiota M, Akamatsu S, Sekine Y, Kimura H, Narita S, Fujimoto N, et al.; Cancer Sci 114(4):1625-1634, 2023
    DOI: 10.1111/cas.15718 　
  7. Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.
    Miyazawa K, Ito K, Ito M, Zou Z, Kubota M, Nomura S, et al.; Nat Genet 55:187-197, 2023
    DOI: 10.1038/s41588-022-01284-9 　 日本語解説: 理研プレスリリース 　
  8. Germline DDX41 mutations define a unique subtype of myeloid neoplasms.
    Makishima M, Saiki R, Nannya N, Korotev S, Gurnari C, Takeda J, et al.; Blood 141:534-549, 2023
    DOI: 10.1182/blood.2022018221 　
  9. Comparison of the loci associated with HbA1c and blood glucose levels identified by a genome-wide association study in the Japanese population
    Sakashita T., Nakamura Y., Sutoh Y., Shimizu A., Hachiya T., Otsuka-Yamasaki Y., et al.; Diabetol Int 14(2):188-198, 2023
    DOI: 10.1007/s13340-023-00618-0
  10. Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals
    Akiyama M., Sakaue S., Takahashi A., Ishigaki K., Hirata M., Matsuda K., et al.; Commun Biol 6(1):143, 2023
    DOI: 10.1038/s42003-023-04491-0
  11. Effects of gene-lifestyle interactions on obesity based on a multi-locus risk score: A cross-sectional analysis
    Nakamura S., Fang X. M., Saito Y., Narimatsu H., Ota A., Ikezaki H., et al.; PLoS One 18(2):e0279169, 2023
    DOI: 10.1371/journal.pone.0279169
  12. Association of 25-hydroxyvitamin D with risk of overall and colorectal cancer among Japanese using a Mendelian randomization approach
    Katagiri R., Goto A., Nakano S., Nakatochi M., Koyanagi Y. N., et al.; Sci Rep 13(1):2384, 2023
    DOI: 10.1038/s41598-023-29596-8
  13. Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan
    Tamura K., Kanazashi Y., Kawada C., Sekine Y., Maejima K., Ashida S., et al.; Hum Mol Genet 32(12):2046-2054, 2023
    DOI: 10.1093/hmg/ddad039
  14. Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population
    Shi J. X., Shiraishi K., Choi J. Y., Matsuo K., Chen T. Y., Dai J. C., et al.; Nat Commun 14(1):3043, 2023
    DOI: 10.1038/s41467-023-38196-z 　 日本語解説: 理研プレスリリース 　
  15. Genome-Wide Association Study of Age-Related Macular Degeneration Reveals 2 New Loci Implying Shared Genetic Components with Central Serous Chorioretinopathy.
    Akiyama M, Miyake M, Momozawa Y, Arakawa S, Maruyama-Inoue M, Endo M, et al.; Ophthalmology S0161-6420(22)00900-9, 2023
    DOI: 10.1016/j.ophtha.2022.10.034 　
  16. Investigating the association between glycaemic traits and colorectal cancer in the Japanese population using Mendelian randomisation
    Hanyuda A., Goto A., Katagiri R., Koyanagi Y. N., Nakatochi M., Sutoh Y., et al.; Sci Rep 13(1):7052, 2023
    DOI: 10.1038/s41598-023-33966-7
  17. Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk
    Kojima S., Koyama S., Ka M., Saito Y., Parrish E. H., Endo M., et al.; Nat Genet 55(6):939-951, 2023
    DOI: 10.1038/s41588-023-01390-2 　 日本語解説: 理研プレスリリース 　
  18. Detection of trait-associated structural variations using short-read sequencing
    Kosugi S., Kamatani Y., Harada K., Tomizuka K., Momozawa Y., Morisaki T., et al.; Cell Genom 3(6):100328, 2023
    DOI: 10.1016/j.xgen.2023.100328 　 日本語解説: 理研プレスリリース 　
  19. Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study
    Otomo N., Khanshour A. M., Koido M., Takeda K., Momozawa Y., Kubo M., et al.; Front Endocrinol 14:1089414, 2023
    DOI: 10.3389/fendo.2023.1089414 　 日本語解説: 理研プレスリリース 　
  20. Genome-wide association studies in advanced prostate cancer: KYUCOG-1401-A study
    Shiota M., Tatarano S., Kamoto T., Matsuyama H., Sakai H., Igawa T., et al.; Endocr Relat Cancer 30(7):e230044, 2023
    DOI: 10.1530/ERC-23-0044
  21. Genetic insights into ossification of the posterior longitudinal ligament of the spine
    Koike Y., Takahata M., Nakajima M., Otomo N., Suetsugu H., Liu X. X., et al.; Elife 12:e86514, 2023
    DOI: 10.7554/eLife.86514 　 日本語解説: 理研プレスリリース 　
  22. GWAS of folate metabolism with gene-environment interaction analysis revealed the possible role of lifestyles in the control of blood folate metabolites in Japanese-the J-MICC Study.
    Tsukamoto M., Hishida A., Tamura T., Nagayoshi M., Okada R., Kubo Y., et al.; J Epidemiol, 2023
    DOI: 10.2188/jea.JE20220341
  23. Multi-ancestry genome-wide analysis identifies shared genetic effects and common genetic variants for self-reported sleep duration
    Scammell B. H., Tchio C., Song Y., Nishiyama T., Louie T. L., Dashti H. S., et al.; Hum Mol Genet 32(18):2797-2807, 2023
    DOI: 10.1093/hmg/ddad101
  24. A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants
    Choi J., Kim S., Kim J., Son H. Y., Yoo S. K., et al.; Sci Adv 9(32):eadg6319, 2023
    DOI: 10.1126/sciadv.adg6319
  25. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
    Stolarova L., Kleiblova P., Zemankova P., Stastna B., Janatova M., Soukupova J., et al.; Clin Cancer Res 29(16):3037-3050, 2023
    DOI: 10.1158/1078-0432.CCR-23-0212
  26. Androgen receptor binding sites enabling genetic prediction of mortality due to prostate cancer in cancer-free subjects
    Ito S., Liu X., Ishikawa Y., Conti D., Otomo N., Kote-Jarai Z., et al.; Nature Communicationsl 14(1):4863, 2023
    DOI: 10.1038/s41467-023-39858-8 　 日本語解説: 理研プレスリリース 　
  27. Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model
    Guo Q., Ji S., Takeuchi K., Urasaki W., Suzuki A., Iwasaki Y., et al.; J Hum Genet 68(12):849-857, 2023
    DOI: 10.1038/s10038-023-01194-6
  28. Natural Selection Signatures in the Hondo and Ryukyu Japanese Subpopulations
    Liu X., Matsunami M., Horikoshi M., Ito S., Ishikawa Y., Suzuki K., et al.; Mol Biol Evol 40(10):msad231, 2023
    DOI: 10.1093/molbev/msad231 　 日本語解説: 琉球大学プレスリリース 　
  29. Identification of telomere maintenance gene variations related to lung adenocarcinoma risk by genome-wide association and whole genome sequencing analyses
    Shiraishi K., Takahashi A., Momozawa Y., Daigo Y., Kaneko S., Kawaguchi T., et al.; Cancer Commun 44(2):287-293, 2023
    DOI: 10.1002/cac2.12498
  30. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
    Wang A., Shen J., Rodriguez A. A., Saunders E. J., Chen F., Janivara R., et al.; Nat Genet 55(12):2065-2074, 2023
    DOI: 10.1038/s41588-023-01534-4
  31. Association Between Glycemic Traits and Primary Open-Angle Glaucoma: A Mendelian Randomization Study in the Japanese Population.
    Hanyuda A, Goto A, Nakatochi M, Sutoh Y, Narita A, Nakano S, et al.; Am J Ophthalmol 245:193-201, 2023
    DOI: 10.1016/j.ajo.2022.09.004