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2020


  1. Genome wide association study of 40 clinical measurements in eight dog breeds.
    Momozawa Y, Merveille AC, Battaille G, Wiberg M, Koch J, Willesen JL, et al.; Sci Rep 10:6520, 2020
    DOI: 10.1038/s41598-020-63457-y   日本語解説: 理研プレスリリース  
  2. Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
    Mizukami K, Iwasaki Y, Kawakami E, Hirata M, Kamatani Y, Matsuda K, et al.; EBioMedicine 60:103033, 2020
    DOI: 10.1016/j.ebiom.2020.103033   日本語解説: 理研プレスリリース  
  3. Prevalence and Spectrum of Pathogenic Germline Variants in Japanese Patients With Early-Onset Colorectal, Breast, and Prostate Cancer.
    Liu X, Takata S, Ashikawa K, Aoi T, Kosugi S, Terao C, et al.; JCO Precision Oncology no. 4:183-191, 2020
    DOI: 10.1200/PO.19.00224   日本語解説: 理研プレスリリース  
  4. Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.
    Koyama S, Ito K, Terao C, Akiyama M, Horikoshi M, Momozawa Y, et al.; Nat Genet 52:1169-1177, 2020
    DOI: 10.1038/s41588-020-0705-3   日本語解説: 理研プレスリリース  
  5. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
    Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, et al.; Nat Genet 52:669-679, 2020
    DOI: 10.1038/s41588-020-0640-3   日本語解説: 理研プレスリリース  
  6. Chromosomal alterations among age-related haematopoietic clones in Japan.
    Terao C, Suzuki A, Momozawa Y, Akiyama M, Ishigaki K, Yamamoto K, et al.; Nature 584:130-135, 2020
    DOI: 10.1038/s41586-020-2426-2   日本語解説: 理研プレスリリース  
  7. GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits.
    Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, et al.; Nat Hum Behav 4:308-316, 2020
    DOI: 10.1038/s41562-019-0805-1   日本語解説: 理研プレスリリース  
  8. Endogenization and excision of human herpesvirus 6 in human genomes.
    Liu X, Kosugi S, Koide R, Kawamura Y, Ito J, Miura H, et al.; PLoS Genet 16:e1008915, 2020
    DOI: 10.1371/journal.pgen.1008915   日本語解説: 理研プレスリリース  
  9. Update on next generation sequencing of pharmacokinetics-related genes: Development of the PKseq panel, a platform for amplicon sequencing of drug-metabolizing enzyme and drug transporter genes.
    Fukunaga K, Momozawa Y, Mushiroda T; Drug Metab Pharmacokinet 37:100370, 2020
    DOI: 10.1016/j.dmpk.2020.11.005  
  10. Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population.
    Yamamoto K, Sakaue S, Matsuda K, Murakami Y, Kamatani Y, Ozono K, et al.; Commun Biol 3:104, 2020
    DOI: 10.1038/s42003-020-0812-9   日本語解説: AMEDプレスリリース  
  11. Substantially Increased Plasma Coproporphyrin-I Concentrations Associated With OATP1B1*15 Allele in Japanese General Population.
    Suzuki Y, Sasamoto Y, Koyama T, Yoshijima C, Nakatochi M, Kubo M, et al.; Clin Transl Sci, 2020
    DOI: 10.1111/cts.12889  
  12. Tuberculosis infection and lung adenocarcinoma: Mendelian randomization and pathway analysis of genome-wide association study data from never-smoking Asian women.
    Wong JYY, Zhang H, Hsiung CA, Shiraishi K, Yu K, Matsuo K, et al.; Genomics 112:1223-1232, 2020
    DOI: 10.1016/j.ygeno.2019.07.008  
  13. Polygenic risk scores in schizophrenia with clinically significant copy number variants.
    Taniguchi S, Ninomiya K, Kushima I, Saito T, Shimasaki A, Sakusabe T, et al.; Psychiatry Clin Neurosci 74:35-39, 2020
    DOI: 10.1111/pcn.12926  
  14. Study profile of the Japan Multi-institutional Collaborative Cohort (J-MICC) Study.
    Takeuchi K, Naito M, Kawai S, Tsukamoto M, Kadomatsu Y, Kubo Y, et al.; J Epidemiol, 2020
    DOI: 10.2188/jea.JE20200147  
  15. A genome-wide association study on fish consumption in a Japanese population-the Japan Multi-Institutional Collaborative Cohort study.
    Suzuki T, Nakamura Y, Matsuo K, Oze I, Doi Y, Narita A, et al.; Eur J Clin Nutr, 2020
    DOI: 10.1038/s41430-020-00702-7  
  16. A genome-wide association study in Japanese identified one variant associated with a preference for a Japanese dietary pattern.
    Suzuki H, Nakamura Y, Matsuo K, Imaeda N, Goto C, Narita A, et al.; Eur J Clin Nutr, 2020
    DOI: 10.1038/s41430-020-00823-z  
  17. Identification of a novel uterine leiomyoma GWAS locus in a Japanese population.
    Sakai K, Tanikawa C, Hirasawa A, Chiyoda T, Yamagami W, Kataoka F, et al.; Sci Rep 10:1197, 2020
    DOI: 10.1038/s41598-020-58066-8  
  18. Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
    Nishiguchi KM, Kunikata H, Fujita K, Hashimoto K, Koyanagi Y, Akiyama M, et al.; Clin Exp Ophthalmol, 2020
    DOI: 10.1111/ceo.13743  
  19. The interaction between ABCA1 polymorphism and physical activity on the HDL-cholesterol levels in a Japanese population.
    Nishida Y, Hachiya T, Hara M, Shimanoe C, Tanaka K, Sutoh Y, et al.; J Lipid Res 61:86-94, 2020
    DOI: 10.1194/jlr.p091546  
  20. Study design and baseline characteristics of a population-based prospective cohort study of dementia in Japan: the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD).
    Ninomiya T, Nakaji S, Maeda T, Yamada M, Mimura M, Nakashima K, et al.; Environ Health Prev Med 25:64, 2020
    DOI: 10.1186/s12199-020-00903-3  
  21. A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
    Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N, et al.; Commun Biol 3:526, 2020
    DOI: 10.1038/s42003-020-01251-2  
  22. Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
    Mutai H, Wasano K, Momozawa Y, Kamatani Y, Miya F, Masuda S, et al.; PLoS Genet 16:e1008643, 2020
    DOI: 10.1371/journal.pgen.1008643   日本語解説: AMED成果情報  
  23. Differential effect of polymorphisms on body mass index across the life course of Japanese: the Japan Multi-Institutional Collaborative Cohort Study.
    Iwase M, Matsuo K, Nakatochi M, Oze I, Ito H, Koyanagi Y, et al.; J Epidemiol, 2020
    DOI: 10.2188/jea.je20190296  
  24. High-throughput functional evaluation of BRCA2 variants of unknown significance.
    Ikegami M, Kohsaka S, Ueno T, Momozawa Y, Inoue S, Tamura K, et al.; Nat Commun 11:2573, 2020
    DOI: 10.1038/s41467-020-16141-8   日本語解説: AMEDプレスリリース  
  25. Diabetes and cancer risk: A Mendelian randomization study.
    Goto A, Yamaji T, Sawada N, Momozawa Y, Kamatani Y, Kubo M, et al.; Int J Cancer 146:712-719, 2020
    DOI: 10.1002/ijc.32310