Katsushi Tokunaga

Summary

Affiliation: University of Tokyo
Country: Japan

Publications

  1. ncbi request reprint [Human genome research and bioethics]
    Katsushi Tokunaga
    Tanpakushitsu Kakusan Koso 50:2308-13. 2005
  2. ncbi request reprint Genetic link between Asians and native Americans: evidence from HLA genes and haplotypes
    K Tokunaga
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Hum Immunol 62:1001-8. 2001
  3. pmc Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan
    Yasuko Takezawa
    Institute for Research in Humanities, Kyoto University, Yoshidahonmachi, Sakyo ku, Kyoto 606 8501, Japan
    BMC Med Ethics 15:33. 2014
  4. pmc Inhibition of glucose-stimulated insulin secretion by KCNJ15, a newly identified susceptibility gene for type 2 diabetes
    Koji Okamoto
    Department of Human Genetics, Graduate School of Tokyo University, Tokyo, Japan
    Diabetes 61:1734-41. 2012
  5. pmc Lessons from Genome-Wide Search for Disease-Related Genes with Special Reference to HLA-Disease Associations
    Katsushi Tokunaga
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113 0013, Japan
    Genes (Basel) 5:84-96. 2014
  6. pmc No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations
    Hiromi Sawai
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 0033, Japan
    BMC Med Genet 13:47. 2012
  7. pmc Human CD72 splicing isoform responsible for resistance to systemic lupus erythematosus regulates serum immunoglobulin level and is localized in endoplasmic reticulum
    Yuki Hitomi
    Laboratory of Immunology, School of Biomedical Science, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8510, Japan
    BMC Immunol 13:72. 2012
  8. pmc A replication study of the association between the IL12B promoter allele CTCTAA and susceptibility to cerebral malaria in Thai population
    Izumi Naka
    Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan
    Malar J 8:290. 2009
  9. pmc Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria
    Izumi Naka
    Doctoral Programme in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan
    Malar J 8:232. 2009
  10. pmc Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals
    Nao Nishida
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    BMC Genomics 9:431. 2008

Detail Information

Publications113 found, 100 shown here

  1. ncbi request reprint [Human genome research and bioethics]
    Katsushi Tokunaga
    Tanpakushitsu Kakusan Koso 50:2308-13. 2005
  2. ncbi request reprint Genetic link between Asians and native Americans: evidence from HLA genes and haplotypes
    K Tokunaga
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Hum Immunol 62:1001-8. 2001
    ..Moreover, relatively small genetic distances and the sharing of several HLA haplotypes between Ainu and Native Americans suggest that these populations are descendants of some Upper Paleolithic populations of East Asia...
  3. pmc Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan
    Yasuko Takezawa
    Institute for Research in Humanities, Kyoto University, Yoshidahonmachi, Sakyo ku, Kyoto 606 8501, Japan
    BMC Med Ethics 15:33. 2014
    ....
  4. pmc Inhibition of glucose-stimulated insulin secretion by KCNJ15, a newly identified susceptibility gene for type 2 diabetes
    Koji Okamoto
    Department of Human Genetics, Graduate School of Tokyo University, Tokyo, Japan
    Diabetes 61:1734-41. 2012
    ..Binding of Kcnj15 with CsR was also detected in INS1 cells. In conclusion, downregulation of Kcnj15 leads to increased insulin secretion in vitro and in vivo. The mechanism to regulate insulin secretion involves KCNJ15 and CsR...
  5. pmc Lessons from Genome-Wide Search for Disease-Related Genes with Special Reference to HLA-Disease Associations
    Katsushi Tokunaga
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113 0013, Japan
    Genes (Basel) 5:84-96. 2014
    ....
  6. pmc No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations
    Hiromi Sawai
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 0033, Japan
    BMC Med Genet 13:47. 2012
    ....
  7. pmc Human CD72 splicing isoform responsible for resistance to systemic lupus erythematosus regulates serum immunoglobulin level and is localized in endoplasmic reticulum
    Yuki Hitomi
    Laboratory of Immunology, School of Biomedical Science, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8510, Japan
    BMC Immunol 13:72. 2012
    ..The human CD72 locus generates a splicing isoform that lacks exon 8 (CD72Δex8) as well as full-length CD72 (CD72fl), and the CD72 polymorphism regulates exon 8 skipping...
  8. pmc A replication study of the association between the IL12B promoter allele CTCTAA and susceptibility to cerebral malaria in Thai population
    Izumi Naka
    Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan
    Malar J 8:290. 2009
    ..An IL12B promoter allele, CTCTAA, at rs17860508 has been reported to be associated with susceptibility to cerebral malaria in African populations. However, this association has not so far been replicated in non-African populations...
  9. pmc Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria
    Izumi Naka
    Doctoral Programme in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan
    Malar J 8:232. 2009
    ....
  10. pmc Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals
    Nao Nishida
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    BMC Genomics 9:431. 2008
    ..0 platform and the genotype calling algorithm "Birdseed"...
  11. pmc Comparative analysis of copy number variation detection methods and database construction
    Asako Koike
    Central Research Laboratory, Hitachi Ltd, Tokyo, Japan
    BMC Genet 12:29. 2011
    ..Furthermore, we identified CNVs of 180 healthy Japanese individuals using parameters that showed the best performance in the HapMap data and investigated their characteristics...
  12. doi request reprint An approach based on a genome-wide association study reveals candidate loci for narcolepsy
    Mihoko Shimada
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 0033, Japan
    Hum Genet 128:433-41. 2010
    ..This novel approach will be applicable to other GWAS in the search of disease-related susceptibility genes...
  13. ncbi request reprint Association study between the TNXB locus and schizophrenia in a Japanese population
    Mamoru Tochigi
    Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Bunkyo, Tokyo, Japan
    Am J Med Genet B Neuropsychiatr Genet 144:305-9. 2007
    ..Although these associations became insignificant after Bonferroni correction, the findings might provide support for the association of the TNXB locus or its adjacent region of the NOTCH4 locus with schizophrenia...
  14. doi request reprint Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype
    Taku Miyagawa
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, Japan
    J Hum Genet 55:63-5. 2010
    ..Thus, TCRA is a plausible candidate for susceptibility to EHS patients positive for the HLA-DRB1*1501-DQB1*0602 haplotype...
  15. doi request reprint Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
    Taku Miyagawa
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo 113 0033, Japan
    Nat Genet 40:1324-8. 2008
    ....
  16. pmc Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the beta-globin gene in the Thai population
    Jun Ohashi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 0033, Japan
    J Hum Genet 50:7-11. 2005
    ..In addition, a novel (AC)n polymorphism adjacent to the (AT)x(T)y repeat (i.e., (AC)3(AT)7(T)5) was found through the variation screening in this study...
  17. doi request reprint FGFR2 is associated with hair thickness in Asian populations
    Akihiro Fujimoto
    Computational Science Research Program, RIKEN, Tokyo, Japan
    J Hum Genet 54:461-5. 2009
    ..0270). These results suggest that the FGFR2 polymorphism affects the variation in hair thickness in Asia through alteration in the expression level of FGFR2...
  18. pmc Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection
    Jun Ohashi
    Department of Human Genetics, The University of Tokyo, Tokyo, Japan
    Am J Hum Genet 74:1198-208. 2004
    ..Our study provides another clear demonstration that a high-resolution LD map across the human genome can detect recent variants that have been subjected to positive selection...
  19. pmc Significant association of KIR2DL3-HLA-C1 combination with cerebral malaria and implications for co-evolution of KIR and HLA
    Kouyuki Hirayasu
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Bunkyo ku, Tokyo, Japan
    PLoS Pathog 8:e1002565. 2012
    ..Our findings provide one possible explanation for KIR-HLA co-evolution driven by a microbial pathogen, and its effect on the global distribution of malaria, KIR and HLA...
  20. doi request reprint Association study of PDE4B with panic disorder in the Japanese population
    Takeshi Otowa
    Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, Tokyo 113 8655, Japan
    Prog Neuropsychopharmacol Biol Psychiatry 35:545-9. 2011
    ..Several studies indicated that PDE4B may be involved in the regulation of anxiety and depression. Therefore, we investigate the association of PDE4B with PD in the Japanese population...
  21. ncbi request reprint Hepatocyte nuclear factor-4alpha P2 promoter haplotypes are associated with type 2 diabetes in the Japanese population
    Kazuo Hara
    Department of Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 8655, Japan
    Diabetes 55:1260-4. 2006
    ..The study also suggested the possible existence of an as-yet-unidentified but functional polymorphism in the P2 promoter region of the HNF4A gene that directly influences susceptibility to type 2 diabetes...
  22. doi request reprint Lack of association of the HbE variant with protection from cerebral malaria in Thailand
    Izumi Naka
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 0033, Japan
    Biochem Genet 46:708-11. 2008
    ..3%) and cerebral malaria (7.4%) patients. Thus, the HbA/HbE polymorphism would not be a major genetic factor influencing the onset of cerebral malaria in Thailand...
  23. ncbi request reprint Absence of association between the Fc gamma receptor IIIA-176F/V polymorphism and the severity of malaria in Thai
    Kazuya Omi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo 113 0033, Japan
    Jpn J Infect Dis 55:167-9. 2002
    ..Thus, we concluded that the association of Fc gamma RIIA-131H/R and Fc gamma RIIIB-NA1/NA2 polymorphisms with cerebral malaria in Thailand is not due to the LD caused by Fc gamma RIIIA-176F/V...
  24. ncbi request reprint Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 with microscopic polyangiitis
    Naoyuki Tsuchiya
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    J Rheumatol 30:1534-40. 2003
    ..Little is known on the genetic background of AAV in Japanese patients mainly because of the difficulty in collecting a sufficient number of samples for the genetics study...
  25. pmc CD36 polymorphism is associated with protection from cerebral malaria
    Kazuya Omi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    Am J Hum Genet 72:364-74. 2003
    ..Results of the present study suggest that LD mapping has potential for detecting a disease-associated variant on the basis of haplotype blocks...
  26. ncbi request reprint FTO polymorphisms in oceanic populations
    Jun Ohashi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    J Hum Genet 52:1031-5. 2007
    ..3% in the six Oceanic populations, and were similar to those in southeast and east Asian populations. Our study of the FTO polymorphisms has generated no evidence to support the thrifty genotype hypothesis for Oceanic populations...
  27. pmc Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia)
    Taku Miyagawa
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    PLoS ONE 4:e5394. 2009
    ..This study was conducted in order to investigate whether these genetic markers are associated with Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy...
  28. ncbi request reprint Phylogenetic relationship of the populations within and around Japan using 105 short tandem repeat polymorphic loci
    Shi lin Li
    Department of Legal Medicine and Bioethics, Graduate School of Medicine, Nagoya University, Nagoya, Japan
    Hum Genet 118:695-707. 2006
    ..This pattern may be the caviar of comparing populations with greatly differing population sizes when STR loci were analyzed...
  29. ncbi request reprint Fcgamma receptor IIA and IIIB polymorphisms are associated with susceptibility to cerebral malaria
    Kazuya Omi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    Parasitol Int 51:361-6. 2002
    ..Our results suggest that FcgammaRIIA-131H/R and FcgammaRIIIB-NA1/NA2 polymorphisms have an interactive effect on host defense against malaria infection...
  30. ncbi request reprint Haplotype analysis of NAD(P)H oxidase p22 phox polymorphisms in end-stage renal disease
    Kent Doi
    Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo, Tokyo 113 8655, Japan
    J Hum Genet 50:641-7. 2005
    ..In conclusion, we identified a risk haplotype for nondiabetic ESRD in the CYBA gene using haplotype analysis. Haplotype analysis proved useful for elucidating the genetic contribution of NAD(P)H oxidase p22 phox to ESRD...
  31. doi request reprint Appropriate data cleaning methods for genome-wide association study
    Taku Miyagawa
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, 113 0033, Japan
    J Hum Genet 53:886-93. 2008
    ..We found that appropriate data cleaning could be achieved using these four parameters. Our findings offer an avenue for obtaining appropriate data from GWAS...
  32. ncbi request reprint Association study of the dysbindin (DTNBP1) gene in schizophrenia from the Japanese population
    Mamoru Tochigi
    Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Neurosci Res 56:154-8. 2006
    ..The results might be similar to a previous Asian study, but specific haplotypes suggested for the association differed between the studies. Studies with more markers and subjects may be required before firm conclusions can be reached...
  33. doi request reprint No evidence for association between the interferon regulatory factor 1 (IRF1) gene and clinical tuberculosis
    Sabine Vollstedt
    Department of Immunology, Graduate School of Medicine and Faculty of Medicine, University of Tokyo, Japan
    Tuberculosis (Edinb) 89:71-6. 2009
    ..However, all polymorphisms with minor allele frequencies higher than 5% and haplotype frequencies in two Southeast Asian populations (Indonesian and Vietnamese) turned out not to be associated with pulmonary tuberculosis...
  34. ncbi request reprint A polymorphism in the AMPKalpha2 subunit gene is associated with insulin resistance and type 2 diabetes in the Japanese population
    Momoko Horikoshi
    Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo, Hongo 7 3 1, Bunkyo ku, Tokyo 113 8655, Japan
    Diabetes 55:919-23. 2006
    ..002; and joint replication control subjects [n = 552], P = 0.037). We speculate that the PRKAA2 gene influences insulin resistance and susceptibility to type 2 diabetes in the Japanese population...
  35. doi request reprint C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytes
    Makoto Hirata
    Sensory and Motor System Medicine, University of Tokyo, Hongo 7 3 1, Bunkyo ku, Tokyo 113 8655, Japan
    Hum Mol Genet 21:1111-23. 2012
    ..Hence, C/EBPβ and RUNX2, with MMP-13 as the target and HIF-2α as the inducer, control cartilage degradation. This molecular network in chondrocytes may represent a therapeutic target for OA...
  36. doi request reprint Association and interaction analyses of NRG1 and ERBB4 genes with schizophrenia in a Japanese population
    Sae Shiota
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, 113 8655, Japan
    J Hum Genet 53:929-35. 2008
    ..Thus, our results suggest the possibility that interaction between variants in NRG1 and ERBB4 might contribute to susceptibility for schizophrenia in a Japanese population. Further investigation may be necessary to confirm our results...
  37. doi request reprint A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia
    Akihiro Fujimoto
    Data Analysis Fusion Team, Computational Science Research Program, RIKEN, Tokyo, Japan
    Hum Genet 124:179-85. 2008
    ..8 x 10(-10)) than those of age, sex, and population. These results indicate that EDAR is the genetic determinant of hair thickness as well as a strong contributor to hair fiber thickness variation among Asian populations...
  38. ncbi request reprint Molecular genetic analyses of human NKG2C (KLRC2) gene deletion
    Risa Miyashita
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113 0033, Japan
    Int Immunol 16:163-8. 2004
    ..These results indicated that NKG2C deletion is commonly present in Japanese and Dutch, suggesting that NKG2C is not essential for survival and reproduction, and is not associated with rheumatic diseases...
  39. ncbi request reprint CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B
    Yuki Hitomi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Japan
    Hum Mol Genet 13:2907-17. 2004
    ..These results indicated that the presence of CD72-*2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72...
  40. doi request reprint Id1/Id3 knockdown inhibits metastatic potential of pancreatic cancer
    Yasutaka Shuno
    Department of Surgical Oncology, University of Tokyo, Tokyo, Japan
    J Surg Res 161:76-82. 2010
    ..Previously, we and others have shown that targeting Id in tumor cells could have important clinical implications. In the present study, we aimed to evaluate the effects of Id inhibition in human pancreatic cancer cells...
  41. ncbi request reprint Polymorphisms of CD36 in Thai malaria patients
    Kazuya Omi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    Southeast Asian J Trop Med Public Health 33:1-4. 2002
    ..040, Fisher's exact test). Although independent studies should be performed in order to confirm our findings, the 539delAC allele might be a high-risk variant for cerebral malaria in Thai...
  42. ncbi request reprint FcgammaRIIB Ile232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreases affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling
    Hajime Kono
    Department of Allergy and Rheumatology, Faculty of Medicine, Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Tokyo 113 8655, Japan
    Hum Mol Genet 14:2881-92. 2005
    ..Collectively, the present findings indicate that the Ile232Thr substitution affects the localization and function of FcgammaRIIB and that the molecular mechanism may link the polymorphism and susceptibility to SLE...
  43. doi request reprint Model incorporating the ITPA genotype identifies patients at high risk of anemia and treatment failure with pegylated-interferon plus ribavirin therapy for chronic hepatitis C
    Masayuki Kurosaki
    Department of Gastroenterology and Hepatology, Musashino Red Cross Hospital, Tokyo, Japan
    J Med Virol 85:449-58. 2013
    ..In conclusion, a predictive model incorporating the ITPA genotype could identify patients with a high risk of anemia and reduced probability of sustained virological response...
  44. pmc A practical genome scan for population-specific strong selective sweeps that have reached fixation
    Ryosuke Kimura
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    PLoS ONE 2:e286. 2007
    ..This study, confirming strong positive selection on genes previously reported to be associated with specific phenotypes, also identifies other candidates that are likely to contribute to phenotypic differences between human populations...
  45. ncbi request reprint Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis
    Risa Miyashita
    University of Tokyo, Hongo, Tokyo, Japan
    Arthritis Rheum 54:992-7. 2006
    ..In this study, we examined possible associations of the presence or absence of KIR loci with a genetic predisposition to MPA...
  46. ncbi request reprint Comparative study of the haplotype structure and linkage disequilibrium of chromosome 1p36.2 region in the Korean and Japanese populations
    Tamao Akesaka
    Department of Human Genetics, University of Tokyo, Tokyo, Japan
    J Hum Genet 49:603-9. 2004
    ..Significant difference in LD strength was present near the TNFR2 region between the Japanese and Korean populations...
  47. ncbi request reprint Role of B cell inhibitory receptor polymorphisms in systemic lupus erythematosus: a negative times a negative makes a positive
    Naoyuki Tsuchiya
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo Bunkyo ku, Tokyo, 113 0033, Japan
    J Hum Genet 51:741-50. 2006
    ..These observations emphasize the need to understand human immune system diversity if we are to improve our understanding of the pathogenesis of autoimmune diseases...
  48. pmc A functional polymorphism in the IL1B gene promoter, IL1B -31C>T, is not associated with cerebral malaria in Thailand
    Jun Ohashi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Tokyo 113 0033, Japan
    Malar J 4:38. 2005
    ..Recently, the level of IL1B expression was reported to be influenced by a polymorphism in the promoter of IL1, IL1B -31C>T...
  49. ncbi request reprint Power of genome-wide linkage disequilibrium testing by using microsatellite markers
    Jun Ohashi
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113 0033, Japan
    J Hum Genet 48:487-91. 2003
    ..This method will be helpful to researchers who design genome-wide LD testing with microsatellite markers...
  50. ncbi request reprint The genotypes of GYPA and GYPB carrying the MNSs antigens are not associated with cerebral malaria
    Izumi Naka
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 0033, Japan
    J Hum Genet 52:476-9. 2007
    ..Thus, we conclude that the MNSs antigens do not reveal the difference in susceptibility to cerebral malaria...
  51. ncbi request reprint Further development of multiplex single nucleotide polymorphism typing method, the DigiTag2 assay
    Nao Nishida
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Bunkyo ku, Tokyo 113 0033, Japan
    Anal Biochem 364:78-85. 2007
    ..The DigiTag2 assay is suitable for genotyping an intermediate number of SNPs (tens to hundreds of sites) with a high conversion rate (>90%), high accuracy, and low cost...
  52. ncbi request reprint Donor killer immunoglobulin-like receptor (KIR) genotype-patient cognate KIR ligand combination and antithymocyte globulin preadministration are critical factors in outcome of HLA-C-KIR ligand-mismatched T cell-replete unrelated bone marrow transplantatio
    Toshio Yabe
    Japanese Red Cross Tokyo Metropolitan Blood Center, Tokyo, Japan
    Biol Blood Marrow Transplant 14:75-87. 2008
    ....
  53. ncbi request reprint Polymorphisms of promoter and coding regions of the arylamine N-acetyltransferase 2 (NAT2) gene in the Indonesian population: proposal for a new nomenclature
    Rika Yuliwulandari
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, Japan
    J Hum Genet 53:201-9. 2008
    ..U1, NAT2*4.U2, NAT2*4.U3, NAT2*4.U5, NAT2*4.U6, NAT2*4.U7, NAT2*6A.U1, NAT2*7B.U2, NAT2*7B.U3, NAT2*5B.U1, NAT2*5B.U4, NAT2*12A.U4 and NAT2*13.U1...
  54. ncbi request reprint Lack of association between interleukin-10 gene promoter polymorphism, -1082G/A, and severe malaria in Thailand
    Jun Ohashi
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Japan
    Southeast Asian J Trop Med Public Health 33:5-7. 2002
    ..6%, 92.1%, and 92.7% respectively. Our results showed no significant association of the -1082G/A polymorphism with the severity of malaria...
  55. ncbi request reprint Association study of the DISC1/TRAX locus with schizophrenia in a Japanese population
    Xuan Zhang
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo, Tokyo, 113 8655 Japan
    Schizophr Res 79:175-80. 2005
    ..Haplotype analysis did not support the association between the patients and controls. The present study suggests that the DISC1/TRAX locus may not have a major role in Japanese schizophrenia...
  56. ncbi request reprint Association of Fcgamma receptor IIA, but not IIB and IIIA, polymorphisms with systemic lupus erythematosus: A family-based association study in Caucasians
    Chieko Kyogoku
    University of Tokyo, Tokyo, Japan
    Arthritis Rheum 50:671-3. 2004
  57. doi request reprint A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population
    Tetsuya Oishi
    Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4 6 1 Shirokanedai, Minato, Tokyo, 108 8639, Japan
    J Hum Genet 53:151-62. 2008
    ..Individuals with risk genotype of both ITPR3 and NKX2.5 loci have higher risk for SLE (odds ratio=5.77). Our data demonstrate that genetic and functional interactions of ITPR3 and NKX2.5 play a crucial role in the pathogenesis of SLE...
  58. doi request reprint Functional polymorphism of the myeloperoxidase gene in hypertensive nephrosclerosis dialysis patients
    Kent Doi
    Department of Nephrology and Endocrinology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Hypertens Res 30:1193-8. 2007
    ....
  59. ncbi request reprint Functional polymorphisms in the vascular endothelial growth factor gene are associated with development of end-stage renal disease in males
    Kent Doi
    Department of Nephrology and Endocrinology, University of Tokyo, 7 3 1 Hongo, Bunkyo, Tokyo, and Department of Nephrology and Kidney and Dialysis Center, Shonan Kamakura General Hospital, Kanagawa, Japan
    J Am Soc Nephrol 17:823-30. 2006
    ..The 936CC-1451CC genotype in the 3' UTR showed not only susceptibility for ESRD but also higher plasma VEGF levels and mRNA stability, indicating the contribution of VEGF to chronic kidney disease progression, especially in males...
  60. pmc Abnormally low serum acylcarnitine levels in narcolepsy patients
    Taku Miyagawa
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Bunkyo ku, Tokyo, Japan
    Sleep 34:349-53A. 2011
    ....
  61. doi request reprint A polymorphism in CCR1/CCR3 is associated with narcolepsy
    Hiromi Toyoda
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    Brain Behav Immun 49:148-55. 2015
    ..CCR1 and CCR3 are newly discovered susceptibility genes for narcolepsy. These results highlight the potential role of CCR genes in narcolepsy and support the hypothesis that patients with narcolepsy have impaired immune function. ..
  62. pmc Identification of KCNJ15 as a susceptibility gene in Asian patients with type 2 diabetes mellitus
    Koji Okamoto
    Department of Human Genetics, Graduate School of Tokyo University, Japan
    Am J Hum Genet 86:54-64. 2010
    ..In conclusion, we demonstrated a significant association between a synonymous variant in KCNJ15 and T2DM in lean Japanese patients with T2DM, suggesting that KCNJ15 is a previously unreported susceptibility gene for T2DM among Asians...
  63. ncbi request reprint A SNP in the ABCC11 gene is the determinant of human earwax type
    Koh ichiro Yoshiura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Nat Genet 38:324-30. 2006
    ..These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G --> A SNP is the first example of DNA polymorphism determining a visible genetic trait...
  64. doi request reprint Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population
    Xiaoxi Liu
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    J Hum Genet 55:137-41. 2010
    ..In conclusion, our study might support that OXTR has a significant role in conferring the risk of ASD in the Japanese population...
  65. doi request reprint Genome-wide association database developed in the Japanese Integrated Database Project
    Asako Koike
    Central Research Laboratory, Hitachi Ltd, Tokyo, Japan
    J Hum Genet 54:543-6. 2009
    ..The same data are also managed as a distributed annotation system to call up useful data from other DBs and to superimpose them on the GWAS data for help in interpretation. The DB is accessible at https://gwas.lifesciencedb.jp/...
  66. doi request reprint Association of human leukocyte antigen class II alleles with severe acute respiratory syndrome in the Vietnamese population
    Naoto Keicho
    Department of Respiratory Diseases, Research Institute, Tokyo, Japan
    Hum Immunol 70:527-31. 2009
    ..0065 and 0.0052, depending on the controls to be compared). Our results and accumulated data on HLA in the Asian populations would help in the understanding of associations with emerging infectious diseases...
  67. ncbi request reprint Genetic variants of beta-globin gene in Thai malaria patients
    Izumi Naka
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    Southeast Asian J Trop Med Public Health 34:29-31. 2003
    ..Thus, the biological significance of IVS+1G>T and its association with malarial infection should be clarified in future studies...
  68. doi request reprint Association between fatty acid binding protein 3 gene variants and essential hypertension in humans
    Takahiro Ueno
    Division of Nephrology and Endocrinology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan
    Am J Hypertens 21:691-5. 2008
    ..In this study, therefore, we explored the role of FABP3 genetic variations in essential hypertension (EH) in humans...
  69. doi request reprint Association of IL28B variants with response to pegylated-interferon alpha plus ribavirin combination therapy reveals intersubgenotypic differences between genotypes 2a and 2b
    Naoya Sakamoto
    Department of Gastroenterology and Hepatology, Tokyo Medical and Dental University, Tokyo, Japan
    J Med Virol 83:871-8. 2011
    ..In conclusion, IL-28B polymorphism affects responses to PEG-IFN-based treatment in difficult-to-treat HCV patients...
  70. doi request reprint A functional single-nucleotide polymorphism in the CR1 promoter region contributes to protection against cerebral malaria
    Phairote Teeranaipong
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    J Infect Dis 198:1880-91. 2008
    ..The present study examined a possible association of polymorphisms in the CR1 gene with the severity of malaria, and it evaluated the influence of the associated polymorphism on expression of E-CR1...
  71. ncbi request reprint Polymorphisms in the ABO blood group gene in three populations in the New Georgia group of the Solomon Islands
    Jun Ohashi
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    J Hum Genet 51:407-11. 2006
    ..The different geographical distribution of ABO alleles provides insight into the migration history of AN-speaking populations in Oceania...
  72. ncbi request reprint Association of six polymorphisms of the NOTCH4 gene with schizophrenia in the Japanese population
    Mamoru Tochigi
    Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, 7 3 1Hongo, Bunkyo ku, Tokyo 113, Japan
    Am J Med Genet B Neuropsychiatr Genet 128:37-40. 2004
    ..In conclusion, the present study provided no clear evidence for an association between the NOTCH4 gene and schizophrenia in the Japanese population...
  73. ncbi request reprint Association of a functional CD19 polymorphism with susceptibility to systemic sclerosis
    Naoyuki Tsuchiya
    Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    Arthritis Rheum 50:4002-7. 2004
    ..In this study, we examined whether CD19 polymorphisms are associated with genetic susceptibility to SSc...
  74. doi request reprint Association of HLA-A, -B, and -DRB1 with pulmonary tuberculosis in western Javanese Indonesia
    Rika Yuliwulandari
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Hum Immunol 71:697-701. 2010
    ..16-0.64), suggesting that stronger susceptibility effect of HLA-B*1802 masked the protective effect of HLA-DRB1*1202. Further studies using larger number of patients with recurrent PTB will be needed to confirm our findings...
  75. ncbi request reprint Immunogenetic features in 120 Japanese patients with idiopathic inflammatory myopathy
    Takefumi Furuya
    Institute of Rheumatology and Department of Neurology, Tokyo Women s Medical University, Tokyo, Japan
    J Rheumatol 31:1768-74. 2004
    ..To examine the role of HLA-DRB1 and tumor necrosis factor (TNF) promoter genotypes in the development and the autoantibody profiles of idiopathic inflammatory myopathy (IIM) in Japanese patients...
  76. ncbi request reprint Long-term persistence of both functional and non-functional alleles at the leukocyte immunoglobulin-like receptor A3 (LILRA3) locus suggests balancing selection
    Kouyuki Hirayasu
    Tokyo Metropolitan Red Cross Blood Center, 4 1 31, Hiroo, Shibuya ku, 150 0012, Tokyo, Japan
    Hum Genet 119:436-43. 2006
    ..This hypothesis is consistent with the observation that the 6.7-kb LILRA3 deletion is detected worldwide in the presence of functional LILRA3 alleles...
  77. doi request reprint Establishment of human cell lines showing circadian rhythms of bioluminescence
    Aki Yoshikawa
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Neurosci Lett 446:40-4. 2008
    ..The established cells will be useful for various in vitro studies of human circadian rhythms and for the development of new therapies for human disorders related to circadian rhythm disturbances...
  78. doi request reprint Association of TNFRSF4 gene polymorphisms with essential hypertension
    Yoichi Mashimo
    Department of Public Health, Graduate School of Medicine, Chiba University, Chiba, Japan
    J Hypertens 26:902-13. 2008
    ..Since essential hypertension is a well-known risk factor for myocardial infarction, we hypothesized that TNFRSF4 could be a susceptibility gene for essential hypertension...
  79. doi request reprint Self-sustained circadian rhythm in cultured human mononuclear cells isolated from peripheral blood
    Takashi Ebisawa
    Department of Sleep Disorder Research Alfressa, Graduate School of Medicine, University of Tokyo, Tokyo 113 0033, Japan
    Neurosci Res 66:223-7. 2010
    ..Activated human PBMCs showed self-sustained circadian rhythm of clock gene expression, which indicates that they are useful for investigating human endogenous circadian rhythm...
  80. ncbi request reprint Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome
    Hirohiko Hohjoh
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    Neurogenetics 4:151-3. 2003
    ..The frequency of the 129 threonine allele is significantly higher in the patients than in the controls ( P=0.0029). The data suggest that AA-NAT could be a susceptibility gene for DSPS...
  81. pmc Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world
    Toshiaki Nakajima
    Division of Genetic Diagnosis, The University of Tokyo, Tokyo 108 8639, Japan
    Am J Hum Genet 74:898-916. 2004
    ..Taken together, patterns of genetic diversity in AGT suggest that natural selection has generally favored the G(-6) variant over the A(-6) variant in non-African populations. However, important localized effects may also be present...
  82. ncbi request reprint Single-nucleotide-polymorphism genotyping for whole-genome-amplified samples using automated fluorescence correlation spectroscopy
    Makoto Bannai
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    Anal Biochem 327:215-21. 2004
    ..WGA coupled with FCS allows specific and high-throughput genotyping of thousands of samples for thousands of different SNPs...
  83. ncbi request reprint Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan
    Rieko Uchihi
    Department of Legal Medicine and Bioethics, Graduate School of Medicine, Nagoya University, Nagoya 466 8550, Japan
    Int J Legal Med 117:34-8. 2003
    ..9976 in Honshu and Okinawa Japanese, respectively. The haplotype analysis at 14 Y-STR loci would be useful for personal identification in forensic fields and for population genetics because of the high divergence of these haplotypes...
  84. ncbi request reprint Significant association of longer forms of CCTTT Microsatellite repeat in the inducible nitric oxide synthase promoter with severe malaria in Thailand
    Jun Ohashi
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Japan
    J Infect Dis 186:578-81. 2002
    ..2, -5.5, -5.8, and -6.1 kb upstream of the iNOS transcriptional start site. Thus, a CCTTT repeat in the iNOS promoter may play a key role in the pathogenesis of severe malaria...
  85. ncbi request reprint Association of eNOS Glu298Asp polymorphism with end-stage renal disease
    Eisei Noiri
    Department of Nephrology and Endocrinology, University of Tokyo, Tokyo, Japan
    Hypertension 40:535-40. 2002
    ..The functional difference in NO generation depending on eNOS with either glutamate or aspartate at position 298 was also confirmed in vitro...
  86. ncbi request reprint High-throughput single nucleotide polymorphism typing by fluorescent single-strand conformation polymorphism analysis with capillary electrophoresis
    Kent Doi
    Department of Nephrology and Endocrinology, Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo, Tokyo 113 8655, Japan
    Electrophoresis 25:833-8. 2004
    ..Thus, fluorescent CE-SSCP analysis is a useful method for large-scale SNP typing...
  87. ncbi request reprint Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility
    Chieko Kyogoku
    University of Tokyo, Tokyo, Japan
    Arthritis Rheum 46:1242-54. 2002
    ....
  88. ncbi request reprint Variations of the CFTR gene in the Hanoi-Vietnamese
    Mai H Nam
    Department of Respiratory Diseases, Research Institute, International Medical Center of Japan, Tokyo, Japan
    Am J Med Genet A 136:249-53. 2005
    ..Three major haplotypes, T7-TG12-M470, T7-TG11-V470, and T7-TG12-V470, estimated by PHASE program, related to 92% of the population. This is the first study of the CFTR gene among the Vietnamese...
  89. ncbi request reprint Recent divergence of the HLA-DRB1*04 allelic lineage from the DRB1*0701 lineage after the separation of the human and chimpanzee species
    Hirohiko Hohjoh
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Immunogenetics 54:856-61. 2003
    ....
  90. ncbi request reprint Brief communication: mitochondrial DNA variation suggests extensive gene flow from Polynesian ancestors to indigenous Melanesians in the northwestern Bismarck Archipelago
    Jun Ohashi
    Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113 0033, Japan
    Am J Phys Anthropol 130:551-6. 2006
    ..e., T16217C, A16247G, and C16261T) suggested that the expansion of Polynesian ancestors possessing these variations occurred approximately 7,000 years ago...
  91. pmc Genomewide association analysis of human narcolepsy and a new resistance gene
    Minae Kawashima
    Department of Sleep Disorder Research Alfresa, Graduate School of Medicine, University of Tokyo, Japan
    Am J Hum Genet 79:252-63. 2006
    ..Therefore, NLC1-A is considered to be a new resistance gene for human narcolepsy...
  92. ncbi request reprint A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness
    Akihiro Fujimoto
    Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Hongo, Tokyo, Japan
    Hum Mol Genet 17:835-43. 2008
    ..These findings lead us to conclude that EDAR is a major genetic determinant of Asian hair thickness and the 1540C allele spread through Asian populations due to recent positive selection...
  93. ncbi request reprint Monocyte chemoattractant protein 1 (MCP-1) gene polymorphism is not associated with severe and cerebral malaria in Thailand
    Naowarut Dechkum
    Department of Microbiology and Immunology, Clinical Tropical Medicine, Faculty of Tropical Medicine, Mahidol Univeristy, Bangkok 10400, Thailand
    Jpn J Infect Dis 59:239-44. 2006
    ..The most common haplotype was GGAC. The results indicated that MCP-1 gene polymorphisms were not associated with malaria severity, implying that MCP-1 was not a cause of malaria severity in this Thai population...
  94. ncbi request reprint Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia
    Atsushi Tajima
    Department of Biosystems Science, The Graduate University for Advanced Studies Sokendai, Hayama, Kanagawa 240 0193, Japan
    Hum Genet 110:80-8. 2002
    ..The distribution patterns of the Y-haplotypes and mutational ages for the key markers suggest that three major groups with different paternal ancestries separately migrated to prehistoric east and southeast Asia...
  95. ncbi request reprint Founder effect of the C9 R95X mutation in Orientals
    Vahid Khajoee
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Hum Genet 112:244-8. 2003
    ....
  96. ncbi request reprint Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages
    Atsushi Tajima
    Department of Biosystems Science, The Graduate University for Advanced Studies Sokendai, Hayama, Kanagawa 240 0193, Japan
    J Hum Genet 49:187-93. 2004
    ..Thus, the present findings suggest that the Ainu retain a certain degree of their own genetic uniqueness, while having higher genetic affinities with other regional populations in Japan and the Nivkhi among Asian populations...
  97. ncbi request reprint A powerful, novel, multiplex typing system for six short tandem repeat loci and the allele frequency distributions in two Japanese regional populations
    Hiroyuki Ohtaki
    Department of Legal Medicine and Bioethics, Nagoya University, Nagoya, Japan
    Electrophoresis 23:3332-40. 2002
    ..This novel, multiplex polymerase chain reaction (PCR) amplification and typing system for six STR loci thus promises to be a convenient and informative new DNA profiling system in the forensic field...
  98. ncbi request reprint Genetic features of Khoton Mongolians revealed by SNP analysis of the X chromosome
    Toru Katoh
    Molecular Life Science, School of Medicine, Tokai University, Bohseidai, Isehara, Kanagawa, 259 1193, Japan
    Gene 357:95-102. 2005
    ..However, the population structure analysis produced an additional finding, namely, that the Khoton population is likely to be an admixed population...
  99. doi request reprint Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder
    Kenji Amano
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Japan
    Psychiatr Genet 18:1-10. 2008
    ....
  100. doi request reprint Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan
    Yukio Horikawa
    Department of Diabetes and Endocrinology, Division of Molecule and Structure, Gifu University School of Medicine, Gifu, Japan
    J Clin Endocrinol Metab 93:3136-41. 2008
    ....
  101. doi request reprint Gene flow and natural selection in oceanic human populations inferred from genome-wide SNP typing
    Ryosuke Kimura
    Department of Forensic Medicine, Tokai University School of Medicine, Kanagawa, Japan
    Mol Biol Evol 25:1750-61. 2008
    ..Conversely, this approach can also shed some light onto the invisible phenotypic differences between populations...