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2018


  1. Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
    Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, et al.; Nat Commun 9:4083, 2018
    DOI: 10.1038/s41467-018-06581-8   日本語解説: 理研プレスリリース  
  2. IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
    Momozawa Y, Dmitrieva J, Theatre E, Deffontaine V, Rahmouni S, Charloteaux B, et al.; Nat Commun 9:2427, 2018
    DOI: 10.1038/s41467-018-04365-8   日本語解説: 理研プレスリリース  
  3. Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese.
    Tajima T, Morita H, Ito K, Yamazaki T, Kubo M, Komuro I, et al.; Sci Rep 8:8107, 2018
    DOI: 10.1038/s41598-018-26453-x   日本語解説: AMEDプレスリリース  
  4. Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.
    Shiga Y, Akiyama M, Nishiguchi KM, Sato K, Shimozawa N, Takahashi A, et al.; Hum Mol Genet 27:1486-1496, 2018
    DOI: 10.1093/hmg/ddy053   日本語解説: 理研プレスリリース  
  5. Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration.
    Akiyama M, Takahashi A, Momozawa Y, Arakawa S, Miya F, Tsunoda T, et al.; J Hum Genet 63:1083-1091, 2018
    DOI: 10.1038/s10038-018-0493-0  
  6. A genome-wide association study in the Japanese population identifies the 12q24 locus for habitual coffee consumption: The J-MICC Study.
    Nakagawa-Senda H, Hachiya T, Shimizu A, Hosono S, Oze I, Watanabe M, et al.; Sci Rep 8:1493, 2018
    DOI: 10.1038/s41598-018-19914-w  
  7. Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.
    Okada Y, Momozawa Y, Sakaue S, Kanai M, Ishigaki K, Akiyama M, et al.; Nat Commun 9:1631, 2018
    DOI: 10.1038/s41467-018-03274-0   日本語解説: 理研プレスリリース  
  8. A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder.
    Ikeda M, Takahashi A, Kamatani Y, Okahisa Y, Kunugi H, Mori N, et al.; Mol Psychiatry 23:639-647, 2018
    DOI: 10.1038/mp.2016.259   日本語解説: AMEDプレスリリース  
  9. Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1.
    Yodsurang V, Tang Y, Takahashi Y, Tanikawa C, Kamatani Y, Takahashi A, et al.; PLoS One 13:e0209096, 2018
    DOI: 10.1371/journal.pone.0209096  
  10. Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer's disease.
    Yamaguchi-Kabata Y, Morihara T, Ohara T, Ninomiya T, Takahashi A, Akatsu H, et al.; Hum Genet 137:521-533, 2018
    DOI: 10.1007/s00439-018-1906-z  
  11. LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins.
    Wei WQ, Li X, Feng Q, Kubo M, Kullo IJ, Peissig PL, et al.; Circulation 138:1839-1849, 2018
    DOI: 10.1161/circulationaha.117.031356  
  12. Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
    Wardell CP, Fujita M, Yamada T, Simbolo M, Fassan M, Karlic R, et al.; J Hepatol 68:959-969, 2018
    DOI: 10.1016/j.jhep.2018.01.009   日本語解説: 理研プレスリリース  
  13. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.
    van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, et al.; Diabetes 67:1414-1427, 2018
    DOI: 10.2337/db17-0914  
  14. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
    Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, et al.; Nat Commun 9:4455, 2018
    DOI: 10.1038/s41467-018-06356-1  
  15. Genome-wide association study of response to methotrexate in early rheumatoid arthritis patients.
    Taylor JC, Bongartz T, Massey J, Mifsud B, Spiliopoulou A, Scott IC, et al.; Pharmacogenomics J 18:528-538, 2018
    DOI: 10.1038/s41397-018-0025-5  
  16. Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility.
    Tanikawa C, Ueda K, Suzuki A, Iida A, Nakamura R, Atsuta N, et al.; Cell Rep 22:1473-1483, 2018
    DOI: 10.1016/j.celrep.2018.01.031   日本語解説: 東京大学 発表論文解説  
  17. Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21.
    Tanikawa C, Kamatani Y, Toyoshima O, Sakamoto H, Ito H, Takahashi A, et al.; Cancer Sci 109:4015-4024, 2018
    DOI: 10.1111/cas.13815  
  18. GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
    Tanikawa C, Kamatani Y, Takahashi A, Momozawa Y, Leveque K, Nagayama S, et al.; Carcinogenesis 39:652-660, 2018
    DOI: 10.1093/carcin/bgy026  
  19. Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
    Takeuchi F, Akiyama M, Matoba N, Katsuya T, Nakatochi M, Tabara Y, et al.; Nat Commun 9:5052, 2018
    DOI: 10.1038/s41467-018-07345-0   日本語解説: 国立国際医療研究センタープレスリリース  
  20. A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
    Sung YJ, Winkler TW, de Las Fuentes L, Bentley AR, Brown MR, Kraja AT, et al.; Am J Hum Genet 102:375-400, 2018
    DOI: 10.1016/j.ajhg.2018.01.015  
  21. Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes.
    Rotroff DM, Yee SW, Zhou K, Marvel SW, Shah HS, Jack JR, et al.; Diabetes 67:1428-1440, 2018
    DOI: 10.2337/db17-1164  
  22. A genome-wide association study identifies three novel genetic markers for response to tamoxifen: A prospective multicenter study.
    Onishi H, Udagawa C, Kubo M, Nakamura S, Akashi-Tanaka S, Kuwayama T, et al.; PLoS One 13:e0201606, 2018
    DOI: 10.1371/journal.pone.0201606  
  23. Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.
    Okuno M, Ayabe T, Yokota I, Musha I, Shiga K, Kikuchi T, et al.; Diabet Med 35:376-380, 2018
    DOI: 10.1111/dme.13566  
  24. Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics.
    Liu D, Ray B, Neavin DR, Zhang J, Athreya AP, Biernacka JM, et al.; Transl Psychiatry 8:10, 2018
    DOI: 10.1038/s41398-017-0056-8  
  25. Identification of a Genomic Region between SLC29A1 and HSP90AB1 Associated with Risk of Bevacizumab-Induced Hypertension: CALGB 80405 (Alliance).
    Li M, Mulkey F, Jiang C, O'Neil BH, Schneider BP, Shen F, et al.; Clin Cancer Res 24:4734-4744, 2018
    DOI: 10.1158/1078-0432.ccr-17-1523  
  26. A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis.
    Kou I, Watanabe K, Takahashi Y, Momozawa Y, Khanshour A, Grauers A, et al.; Sci Rep 8:11575, 2018
    DOI: 10.1038/s41598-018-29011-7  
  27. Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis.
    Kochi Y, Kamatani Y, Kondo Y, Suzuki A, Kawakami E, Hiwa R, et al.; Ann Rheum Dis 77:602-611, 2018
    DOI: 10.1136/annrheumdis-2017-212149  
  28. Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
    Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, et al.; Nat Genet 50:390-400, 2018
    DOI: 10.1038/s41588-018-0047-6   日本語解説: 理研プレスリリース  
  29. Genetic variation determines VEGF-A plasma levels in cancer patients.
    Innocenti F, Jiang C, Sibley AB, Etheridge AS, Hatch AJ, Denning S, et al.; Sci Rep 8:16332, 2018
    DOI: 10.1038/s41598-018-34506-4  
  30. Germline genome-wide association studies in women receiving neoadjuvant chemotherapy with or without bevacizumab.
    Ingle JN, Kalari KR, Wickerham DL, von Minckwitz G, Fasching PA, Furukawa Y, et al.; Pharmacogenet Genomics 28:147-152, 2018
    DOI: 10.1097/fpc.0000000000000337  
  31. TCL1A, a Novel Transcription Factor and a Coregulator of Nuclear Factor κB p65: Single Nucleotide Polymorphism and Estrogen Dependence.
    Ho MF, Lummertz da Rocha E, Zhang C, Ingle JN, Goss PE, Shepherd LE, et al.; J Pharmacol Exp Ther 365:700-710, 2018
    DOI: 10.1124/jpet.118.247718  
  32. Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study.
    Hishida A, Nakatochi M, Akiyama M, Kamatani Y, Nishiyama T, Ito H, et al.; Am J Nephrol 47:304-316, 2018
    DOI: 10.1159/000488946  
  33. Genomewide Association Study of Leisure-Time Exercise Behavior in Japanese Adults.
    Hara M, Hachiya T, Sutoh Y, Matsuo K, Nishida Y, Shimanoe C, et al.; Med Sci Sports Exerc 50:2433-2441, 2018
    DOI: 10.1249/mss.0000000000001712  
  34. Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians.
    Han B, Akiyama M, Kim KK, Oh H, Choi H, Lee CH, et al.; Hum Mol Genet 27:3901-3910, 2018
    DOI: 10.1093/hmg/ddy285  
  35. Genome-wide association study for pollinosis identified two novel loci in interleukin (IL)-1B in a Japanese population.
    Fujii R, Hishida A, Wu MC, Kondo T, Hattori Y, Naito M, et al.; Nagoya J Med Sci 80:109-120, 2018
    DOI: 10.18999/nagjms.80.1.109  
  36. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
    Feitosa MF, Kraja AT, Chasman DI, Sung YJ, Winkler TW, Ntalla I, et al.; PLoS One 13:e0198166, 2018
    DOI: 10.1371/journal.pone.0198166  
  37. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
    Demenais F, Margaritte-Jeannin P, Barnes KC, Cookson WOC, Altmuller J, Ang W, et al.; Nat Genet 50:42-53, 2018
    DOI: 10.1038/s41588-017-0014-7   日本語解説: 理研プレスリリース  
  38. The phosphatidylinositide 3-kinase (PI3K) signaling pathway is a determinant of zileuton response in adults with asthma.
    Dahlin A, Qiu W, Litonjua AA, Lima JJ, Tamari M, Kubo M, et al.; Pharmacogenomics J 18:665-677, 2018
    DOI: 10.1038/s41397-017-0006-0  
  39. Genome-wide association study identifies pharmacogenomic loci linked with specific antihypertensive drug treatment and new-onset diabetes.
    Chang SW, McDonough CW, Gong Y, Johnson TA, Tsunoda T, Gamazon ER, et al.; Pharmacogenomics J 18:106-112, 2018
    DOI: 10.1038/tpj.2016.67  
  40. Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.
    Amininejad L, Charloteaux B, Theatre E, Liefferinckx C, Dmitrieva J, Hayard P, et al.; Gastroenterology 154:2165-2177, 2018
    DOI: 10.1053/j.gastro.2018.02.028  
  41. Association of the Polygenic Scores for Personality Traits and Response to Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder.
    Amare AT, Schubert KO, Tekola-Ayele F, Hsu YH, Sangkuhl K, Jenkins G, et al.; Front Psychiatry 9:65, 2018
    DOI: 10.3389/fpsyt.2018.00065  
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