Michiaki Kubo

Summary

Affiliation: RIKEN Brain Science Institute
Country: Japan

Publications

  1. pmc eNOS genotype modifies the effect of leisure-time physical activity on serum triglyceride levels in a Japanese population
    Takahiro Higashibata
    Department of Preventive Medicine, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, 466 8550, Japan
    Lipids Health Dis 11:150. 2012
  2. pmc Aromatase inhibitors, estrogens and musculoskeletal pain: estrogen-dependent T-cell leukemia 1A (TCL1A) gene-mediated regulation of cytokine expression
    Mohan Liu
    Division of Clinical Pharmacology, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Breast Cancer Res 14:R41. 2012
  3. pmc Pro-/anti-inflammatory cytokine gene polymorphisms and chronic kidney disease: a cross-sectional study
    Rieko Okada
    Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan
    BMC Nephrol 13:2. 2012
  4. doi request reprint Secular trends in the incidence of and risk factors for ischemic stroke and its subtypes in Japanese population
    Michiaki Kubo
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Suehiro cho 1 7 22, Tsurumi, Yokohama, Kanagawa, 230 0045, Japan
    Circulation 118:2672-8. 2008
  5. doi request reprint A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population
    Keiko Yamazaki
    Laboratory for Genotyping Development, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, Yokohama, Japan
    Gastroenterology 144:781-8. 2013
  6. doi request reprint Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population
    Ryo Takata
    Laboratory for Biomarker Development, Center of Genomic Medicine, RIKEN, Tokyo, Japan
    Nat Genet 42:751-4. 2010
  7. doi request reprint Functional SNP of ARHGEF10 confers risk of atherothrombotic stroke
    Tomonaga Matsushita
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa, Japan
    Hum Mol Genet 19:1137-46. 2010
  8. doi request reprint Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population
    Tomomitsu Hirota
    Laboratory for Respiratory Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Nat Genet 44:1222-6. 2012
  9. doi request reprint Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes
    Yumi Yamaguchi-Kabata
    Laboratory for Medical Informatics, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, Yokohama, Japan
    J Hum Genet 57:326-34. 2012
  10. doi request reprint Association study of the polymorphisms on chromosome 12p13 with atherothrombotic stroke in the Japanese population
    Tomonaga Matsushita
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN Yokohama Institute, Kanagawa, Japan
    J Hum Genet 55:473-6. 2010

Detail Information

Publications66

  1. pmc eNOS genotype modifies the effect of leisure-time physical activity on serum triglyceride levels in a Japanese population
    Takahiro Higashibata
    Department of Preventive Medicine, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, 466 8550, Japan
    Lipids Health Dis 11:150. 2012
    ..The purpose of this study was to examine possible associations of the NOS3 T-786C polymorphism (rs2070744) with serum lipid levels on the basis of lifestyle factors for tailoring prevention of dyslipidemia...
  2. pmc Aromatase inhibitors, estrogens and musculoskeletal pain: estrogen-dependent T-cell leukemia 1A (TCL1A) gene-mediated regulation of cytokine expression
    Mohan Liu
    Division of Clinical Pharmacology, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Breast Cancer Res 14:R41. 2012
    ..In the present study, we set out to determine whether these SNPs might influence cytokine expression and effect more widely, and, if so, to explore the mechanism of TCL1A-related AI-induced side effects...
  3. pmc Pro-/anti-inflammatory cytokine gene polymorphisms and chronic kidney disease: a cross-sectional study
    Rieko Okada
    Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan
    BMC Nephrol 13:2. 2012
    ....
  4. doi request reprint Secular trends in the incidence of and risk factors for ischemic stroke and its subtypes in Japanese population
    Michiaki Kubo
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Suehiro cho 1 7 22, Tsurumi, Yokohama, Kanagawa, 230 0045, Japan
    Circulation 118:2672-8. 2008
    ..The study of long-term trends in the incidence of and risk factors for ischemic stroke subtypes could offer insights into primary and secondary prevention...
  5. doi request reprint A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population
    Keiko Yamazaki
    Laboratory for Genotyping Development, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, Yokohama, Japan
    Gastroenterology 144:781-8. 2013
    ..We therefore investigated genetic factors associated with Crohn's disease in the Japanese population...
  6. doi request reprint Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population
    Ryo Takata
    Laboratory for Biomarker Development, Center of Genomic Medicine, RIKEN, Tokyo, Japan
    Nat Genet 42:751-4. 2010
    ..6 x 10(-8)). These findings advance our understanding of the genetic basis of prostate carcinogenesis and also highlight the genetic heterogeneity of prostate cancer susceptibility among different ethnic populations...
  7. doi request reprint Functional SNP of ARHGEF10 confers risk of atherothrombotic stroke
    Tomonaga Matsushita
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa, Japan
    Hum Mol Genet 19:1137-46. 2010
    ..033, hazard ratio = 1.79, 95% CI = 1.05-3.04). Our data suggest that the functional SNP of ARHGEF10 confers the susceptibility to atherothrombotic stroke...
  8. doi request reprint Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population
    Tomomitsu Hirota
    Laboratory for Respiratory Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Nat Genet 44:1222-6. 2012
    ..These findings advance the understanding of the genetic basis of atopic dermatitis...
  9. doi request reprint Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes
    Yumi Yamaguchi-Kabata
    Laboratory for Medical Informatics, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, Yokohama, Japan
    J Hum Genet 57:326-34. 2012
    ....
  10. doi request reprint Association study of the polymorphisms on chromosome 12p13 with atherothrombotic stroke in the Japanese population
    Tomonaga Matsushita
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN Yokohama Institute, Kanagawa, Japan
    J Hum Genet 55:473-6. 2010
    ..19). Rs11833579 showed no association with atherothrombotic stroke or its subtypes in our population. Our data suggest that rs12425791 on chromosome 12p13 is a genetic marker for atherothrombotic stroke in multiethnic population...
  11. doi request reprint IRX4 at 5p15 suppresses prostate cancer growth through the interaction with vitamin D receptor, conferring prostate cancer susceptibility
    Hai Ha Nguyen
    Laboratory for Biomarker Development, Center for Genome Medicine, RIKEN, Tokyo, Japan
    Hum Mol Genet 21:2076-85. 2012
    ....
  12. doi request reprint Making a haplotype catalog with estimated frequencies based on SNP homozygotes
    Yumi Yamaguchi-Kabata
    Laboratory for Statistical Analysis, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, Minato ku, Tokyo, Japan
    J Hum Genet 55:500-6. 2010
    ..In addition, the unambiguously determined haplotypes with their estimated frequencies can be used as a catalog of haplotypes for the population, which is useful for the design of genome-wide association studies...
  13. pmc Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population
    Natsuhiko Kumasaka
    Research Group for Medical Informatics, Center for Genomic Medicine, RIKEN, Tokyo, Japan
    PLoS ONE 7:e44507. 2012
    ..5 x 10(-52)). These haplotypes were also associated with smoking-related diseases, including lung cancer, chronic obstructive pulmonary disease and arteriosclerosis obliterans...
  14. pmc Variants of C-C motif chemokine 22 (CCL22) are associated with susceptibility to atopic dermatitis: case-control studies
    Tomomitsu Hirota
    Laboratory for Respiratory Diseases, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, Kanagawa, Japan
    PLoS ONE 6:e26987. 2011
    ..Although further functional analyses are needed, it is likely that related variants play a role in susceptibility to AD in a gain-of-function manner. Our findings provide a new insight into the etiology and pathogenesis of AD...
  15. doi request reprint HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease
    Yukinori Okada
    Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Yokohama Institute, Japan
    Gastroenterology 141:864-871.e1-5. 2011
    ..There are many genetic factors that are associated with both ulcerative colitis (UC) and Crohn's disease (CD). However, genetic factors that have distinct effects on UC and CD have not been examined...
  16. pmc Identification of nine novel loci associated with white blood cell subtypes in a Japanese population
    Yukinori Okada
    Laboratory for Statistical Analysis, Center for Genomic Medicine, Institute of Physical and Chemical Research, Yokohama, Japan
    PLoS Genet 7:e1002067. 2011
    ..This study should contribute to the understanding of the genetic backgrounds of the WBC subtypes and hematological traits...
  17. pmc A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese
    Yukinori Okada
    Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    PLoS Genet 8:e1002455. 2012
    ..05). As AFF1 transcripts were prominently expressed in CD4(+) and CD19(+) peripheral blood lymphocytes, up-regulation of AFF1 may cause the abnormality in these lymphocytes, leading to disease onset...
  18. doi request reprint Meta-analysis of published studies identified eight additional common susceptibility loci for Crohn's disease and ulcerative colitis
    Junji Umeno
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Yokohama Institute, Japan Department of Medicine and Clinical Science, Kyushu University, Fukuoka, Japan
    Inflamm Bowel Dis 17:2407-15. 2011
    ..This study is aimed to identify the common genetic factors for CD and UC by a meta-analysis of published studies...
  19. doi request reprint A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese
    Aritoshi Iida
    Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo 108 8639, Japan
    Hum Mol Genet 20:3684-92. 2011
    ..Our results strongly suggest that ZNF512B is an important positive regulator of TGF-β signaling and that decreased ZNF512B expression increases susceptibility to ALS...
  20. doi request reprint Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count
    Yukinori Okada
    Laboratory for Statistical Analysis, Center for Genomic Medicine, Institute of Physical and Chemical Research RIKEN, Kanagawa, Japan
    Hum Mol Genet 19:2079-85. 2010
    ..In conclusion, our study would demonstrate the significant contribution of PSMD3-CSF3 and PLCB4 loci to the regulation of neutrophil count...
  21. doi request reprint Association study of 71 European Crohn's disease susceptibility loci in a Japanese population
    Atsushi Hirano
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN Yokohama Institute, Yokohama, Japan
    Inflamm Bowel Dis 19:526-33. 2013
    ..However, it is not clear whether these susceptibility loci are also shared with Japanese populations...
  22. pmc Reproducibility, performance, and clinical utility of a genetic risk prediction model for prostate cancer in Japanese
    Shusuke Akamatsu
    Laboratory for Biomarker Development, Center for Genomic Medicine, RIKEN, Tokyo, Japan
    PLoS ONE 7:e46454. 2012
    ..The model could have a potential to affect clinical decision when it is applied to patients with gray-zone PSA, which should be confirmed in future clinical studies...
  23. doi request reprint Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese
    Aritoshi Iida
    Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
    Neurobiol Aging 33:1843.e19-24. 2012
    ..Our results suggest that the OPTN deletion mutation in ALS is not infrequent and the prevalence of the OPTN mutation in Japanese sporadic ALS is considerably high...
  24. pmc Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese
    Keiko Myouzen
    Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    PLoS Genet 8:e1002949. 2012
    ..These results suggest that the NF-κB pathway plays a role in pathogenesis and would be a rational target for treatment of rheumatoid arthritis...
  25. doi request reprint PlatinumCNV: a Bayesian Gaussian mixture model for genotyping copy number polymorphisms using SNP array signal intensity data
    Natsuhiko Kumasaka
    Research Group for Medical Informatics, Center for Genomic Medicine, RIKEN, Shirokane dai, Minato ku, Tokyo, Japan
    Genet Epidemiol 35:831-44. 2011
    ..The methods described in this work are implemented in a software package, PlatinumCNV, available on the Internet...
  26. doi request reprint Lack of association between variations of PDE4D and ischemic stroke in the Japanese population
    Tomonaga Matsushita
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa, Japan
    Stroke 40:1245-51. 2009
    ..However, the validity of the association has remained controversial because of the heterogeneity of both genetic markers and phenotypes...
  27. doi request reprint Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus
    Yukinori Okada
    Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Hum Mol Genet 20:1224-31. 2011
    ..0 × 10(-4)), although no pleiotropic association was observed in the CRP or HNF1A locus (α = 0.01). Our study demonstrated the pivotal role of the IL6 locus in the regulation of serum CRP levels and inflammatory pathways...
  28. doi request reprint A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci
    Yukinori Okada
    Center for Genomic Medicine, Institute of Physical and Chemical Research, RIKEN, Kanagawa, Japan
    Hum Mol Genet 19:2303-12. 2010
    ..26 cm (95% confidence interval: 1.18-1.34) per 1.0 increase of the normalized Z score for height-increasing alleles, explaining 4.6% of the total variance of adult height...
  29. doi request reprint Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese
    Shusuke Akamatsu
    Laboratory for Biomarker Development, Center for Genomic Medicine, RIKEN, Tokyo, Japan
    Nat Genet 44:426-9, S1. 2012
    ..08 × 10(-7)). The identification of three new susceptibility loci should provide additional insight into the pathogenesis of prostate cancer and emphasizes the importance of conducting GWAS in diverse populations...
  30. doi request reprint A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population
    Kouichi Asano
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Yokohama Institute, Yokohama, Japan
    Nat Genet 41:1325-9. 2009
    ..Our findings provide insight into the molecular pathogenesis of ulcerative colitis...
  31. pmc Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese
    Ikuyo Kou
    Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan
    PLoS ONE 6:e19641. 2011
    ..Our findings would give a new insight into osteoporosis etiology and pathogenesis...
  32. doi request reprint Establishment of a standardized system to perform population structure analyses with limited sample size or with different sets of SNP genotypes
    Natsuhiko Kumasaka
    Laboratory for Statistical Analysis, Research Group for Medical Informatics, Center for Genomic Medicine, RIKEN, Tokyo, Japan
    J Hum Genet 55:525-33. 2010
    ....
  33. doi request reprint Lessons for pharmacogenomics studies: association study between CYP2D6 genotype and tamoxifen response
    Kazuma Kiyotani
    Laboratory for Pharmacogenetics, RIKEN Center for Genomic Medicine, Yokohama, Japan
    Pharmacogenet Genomics 20:565-8. 2010
    ..This study explained a part of the discrepancies among the reported results...
  34. doi request reprint A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility
    Yuta Kochi
    Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Nat Genet 42:515-9. 2010
    ..Moreover, CCR6DNP was associated with susceptibility to Graves' and Crohn's diseases. These results suggest that CCR6 is critically involved in IL-17-driven autoimmunity in human diseases...
  35. doi request reprint A functional variant in NKX3.1 associated with prostate cancer susceptibility down-regulates NKX3.1 expression
    Shusuke Akamatsu
    Laboratory for Biomarker Development, Center of Genome Medicine, RIKEN, Yokohama, Japan
    Hum Mol Genet 19:4265-72. 2010
    ..1 can affect its transcription by altering the binding affinity of a transcriptional factor Sp1, and might result in PC susceptibility by lowering expression of NKX3.1 in the prostate...
  36. doi request reprint New pharmacogenetic test for detecting an HLA-A*31: 01 allele using the InvaderPlus assay
    Masayuki Aoki
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa, Japan
    Pharmacogenet Genomics 22:441-6. 2012
    ..As most of the available methods for HLA genotyping are laborious, the development of a simple and rapid genotyping method for HLA-A*31:01 is desirable from the viewpoint of a clinical pharmacogenetic test...
  37. doi request reprint Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population
    Yukinori Okada
    Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Nat Genet 44:511-6. 2012
    ..This provided evidence of shared genetic risks of rheumatoid arthritis between the populations...
  38. doi request reprint Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population
    Tomomitsu Hirota
    Laboratory for Respiratory Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa, Japan
    Nat Genet 43:893-6. 2011
    ..Our findings offer a better understanding of the genetic contribution to asthma susceptibility...
  39. doi request reprint Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations
    Yukinori Okada
    Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Nat Genet 44:302-6. 2012
    ..0 × 10(-8)) between a SNP in the KLF9 locus (rs11142387) and one in the MSTN (also known as GDF8) locus at 2q32 (rs13034723). These findings should provide useful insights into the etiology of obesity...
  40. doi request reprint Prostate cancer genomics, biology, and risk assessment through genome-wide association studies
    Hidewaki Nakagawa
    Laboratory for Biomarker Development, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Cancer Sci 103:607-13. 2012
    ....
  41. doi request reprint Development of new HLA-B*3505 genotyping method using Invader assay
    Naoya Hosono
    Laboratory for Genotyping Development, University of Tokyo, Japan
    Pharmacogenet Genomics 20:630-3. 2010
    ..Our results were 100% concordant with those obtained by a sequence-based typing method. As our assay is simple and rapid, we believe our method will be a useful tool for pharmacogenetic testing of the nevirapine-induced skin rash...
  42. doi request reprint SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population
    Asako Aoki
    Laboratory for Cardiovascular disease, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    J Hum Genet 56:47-51. 2011
    ..These findings indicate that the SNPs on chromosome 5p15.3 are novel protective genetic factors against MI...
  43. doi request reprint Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis
    Ikuyo Kou
    Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan
    Nat Genet 45:676-9. 2013
    ..27). GPR126 was highly expressed in cartilage, and the knockdown of gpr126 in zebrafish caused delayed ossification of the developing spine. Our results should provide insights into the etiology and pathogenesis of AIS...
  44. doi request reprint A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations
    Minako Imamura
    Laboratory for Endocrinology and Metabolism, RIKEN Center for Genomic Medicine, Yokohama, Kanagawa, Japan
    Hum Mol Genet 21:3042-9. 2012
    ..The signal of association was weaker in the directly genotyped data, so the improvement in signal indicates the importance of imputation in this particular case...
  45. doi request reprint Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations
    Yukinori Okada
    Laboratory for Statistical Analysis, Center for Genomic Medicine CGM, RIKEN, Yokohama, Japan
    Nat Genet 44:904-9. 2012
    ..We identify pleiotropic associations among these loci with kidney function-related traits and risk of CKD. These findings provide new insights into the genetics of kidney function...
  46. doi request reprint A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis
    Yohei Takahashi
    Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan
    Nat Genet 43:1237-40. 2011
    ..24 × 10(-19); odds ratio (OR) = 1.56) is located near LBX1 (encoding ladybird homeobox 1). The identification of this susceptibility locus provides new insights into the pathogenesis of adolescent idiopathic scoliosis...
  47. doi request reprint Significant effect of polymorphisms in CYP2D6 and ABCC2 on clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients
    Kazuma Kiyotani
    Laboratories for Pharmacogenetics, Genotyping Development, and Medical Informatics, RIKEN Center for Genomic Medicine, Yokohama, Japan
    J Clin Oncol 28:1287-93. 2010
    ..We investigated relationships of polymorphisms in transporter genes and CYP2D6 to clinical outcome of patients receiving tamoxifen...
  48. pmc A practical method to detect SNVs and indels from whole genome and exome sequencing data
    Daichi Shigemizu
    1 Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan 2
    Sci Rep 3:2161. 2013
    ..0068% and 0.17%) and WES (0.0036% and 0.0084%) datasets. Furthermore, short indels were identified with high accuracy (WGS: 94.7%, WES: 97.3%). We believe our method can contribute to the greater understanding of human diseases. ..
  49. doi request reprint Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators
    Akihiro Fujimoto
    Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Nat Genet 44:760-4. 2012
    ..Our whole-genome sequencing analysis of HCCs identified the influence of etiological background on somatic mutation patterns and subsequent carcinogenesis, as well as recurrent mutations in chromatin regulators in HCCs...
  50. doi request reprint Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers
    Daiki Miki
    Laboratory for Digestive Diseases, Center for Genomic Medicine, RIKEN, Hiroshima, Japan
    Nat Genet 43:797-800. 2011
    ..35 × 10(-14), odds ratio = 1.96). Our findings suggest that common variants within the DEPDC5 locus affect susceptibility to HCC in Japanese individuals with chronic HCV infection...
  51. doi request reprint Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population
    Satoshi Arakawa
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN Yokohama Institute, Yokohama, Japan
    Nat Genet 43:1001-4. 2011
    ..30). Fine mapping revealed that rs13278062, which is known to alter TNFRSF10A transcriptional activity, had the most significant association in 8p21 region. Our results provide new insights into the pathophysiology of exudative AMD...
  52. doi request reprint Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing
    Akihiro Fujimoto
    Center for Genomic Medicine, RIKEN, Tsurumi, Yokohama, Japan
    Nat Genet 42:931-6. 2010
    ..Our analysis suggests that considerable variation remains undiscovered in the human genome and that whole-genome sequencing is an invaluable tool for obtaining a complete understanding of human genetic variation...
  53. doi request reprint PADI4 polymorphism predisposes male smokers to rheumatoid arthritis
    Yuta Kochi
    Correspondence to Dr Yuta Kochi, Laboratory for Autoimmune Diseases, CGM, RIKEN, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    Ann Rheum Dis 70:512-5. 2011
    ....
  54. doi request reprint Association study of susceptibility genes for late-onset Alzheimer's disease in the Japanese population
    Tomoyuki Ohara
    Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN Yokohama Institute, Kanagawa, Japan
    Psychiatr Genet 22:290-3. 2012
    ..02, odds ratio=1.23). There was no significant interaction between PICALM and APOE-ε4 carrier status (P for interaction=0.68). Our data indicate that PICALM is also a susceptibility gene for LOAD in the Japanese population...
  55. doi request reprint A genome-wide association study identifies three new risk loci for Kawasaki disease
    Yoshihiro Onouchi
    Laboratory for Cardiovascular Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Nat Genet 44:517-21. 2012
    ..6 × 10(-6)) identified in a recently reported GWAS of Kawasaki disease. Our findings provide new insights into the pathogenesis and pathophysiology of Kawasaki disease...
  56. doi request reprint A genome-wide association study identifies four genetic markers for hematological toxicities in cancer patients receiving gemcitabine therapy
    Kazuma Kiyotani
    Laboratory for Pharmacogenetics bLaboratory for Statistical Analysis, RIKEN Center for Genomic Medicine, Yokohama, Japan
    Pharmacogenet Genomics 22:229-35. 2012
    ..However, genetic factors determining the risk of adverse reactions of gemcitabine are not fully understood...
  57. doi request reprint Inverse association of IL28B genotype and liver mRNA expression of genes promoting or suppressing antiviral state
    Hiromi Abe
    Laboratory for Digestive Diseases, Center for Genomic Medicine, RIKEN, Hiroshima, Japan
    J Med Virol 83:1597-607. 2011
    ..These results suggest that rs12979860 genotype may be associated with response to combination therapy through an inverse relationship between antiviral and suppressor ISGs in the liver...
  58. ncbi request reprint [Genetic risk factors of ischemic stroke identified by a genome-wide association study]
    Michiaki Kubo
    Laboratory for Genotyping Development, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama 230 0045, Japan
    Brain Nerve 60:1339-46. 2008
    ..Therefore we suggest that genome-wide association study is a powerful tool for identifying new susceptibility genes and can provide new insights into the pathogenesis, prevention, and treatment of ischemic stroke...
  59. doi request reprint A genome-wide association study identifies ITGA9 conferring risk of nasopharyngeal carcinoma
    Ching Ching Ng
    Laboratory for International Alliance, RIKEN Center for Genomic Medicine, Tsurumi ku, Yokohama, Japan
    J Hum Genet 54:392-7. 2009
    ..85 x 10(-8) (OR=3.18, 95% CI=1.94-5.21), suggesting that a genetic variation(s) in ITGA9 may influence susceptibility to NPC in the Malaysian Chinese population...
  60. doi request reprint Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians
    Aritoshi Iida
    Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan
    Neurobiol Aging 32:757.e13-4. 2011
    ..58, odds ratio [OR] = 1.03, 95% confidence interval [CI] 0.93-1.13; rs2814707, combined p = 0.88, OR = 1.10, 95% CI 0.93-1.30). The association of these loci with susceptibility to sporadic ALS is considered negative in East Asians...
  61. doi request reprint SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
    Hiroyuki Unoki
    Laboratory for Endocrinology and Metabolism, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa 230 0045, Japan
    Nat Genet 40:1098-102. 2008
    ..5 x 10(-3); OR = 1.14, rs2237897, P = 2.4 x 10(-4); OR = 1.22) and Danish populations (additive model: rs2237895, P = 3.7 x 10(-11); OR = 1.24, rs2237897, P = 1.2 x 10(-4); OR = 1.36)...
  62. doi request reprint Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan
    Siew Kee Low
    Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Yokohama, Japan Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
    Cancer Sci 104:1074-82. 2013
    ..However, we hope that verification of these genetic variants through local and international collaborations could improve the clinical outcome for cancer patients. ..
  63. pmc Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies
    Yumi Yamaguchi-Kabata
    Laboratory for Statistical Analysis, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, 4 6 1 Shirokane dai, Minato ku, Tokyo 108 8639, Japan
    Am J Hum Genet 83:445-56. 2008
    ..Simulation studies showed that the inclusion of different proportions of individuals from different regions of Japan in case and control groups can lead to an inflated rate of false-positive results when the sample sizes are large...
  64. doi request reprint CYP2D6 genotyping for functional-gene dosage analysis by allele copy number detection
    Naoya Hosono
    Laboratory for Genotyping Development, Laboratory for Medical Informatics, Laboratory for Pharmacogenetics, Center for Genomic Medicine, RIKEN, Yokohama, Japan
    Clin Chem 55:1546-54. 2009
    ....
  65. pmc New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study
    Masahiro Nakajima
    Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan
    PLoS ONE 5:e9723. 2010
    ..43x10(-8) for rs7775228 and 6.73x10(-8) for rs10947262). Our results suggest that immunologic mechanism is implicated in the etiology of OA...
  66. doi request reprint Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population
    Akari Suzuki
    Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa 230 0045, Japan
    Nat Genet 40:1224-9. 2008
    ..CD244 is a genetic risk factor for rheumatoid arthritis and may have a role in the autoimmune process shared by rheumatoid arthritis and systemic lupus erythematosus...