Title:
GENETIC TESTING METHOD FOR MULTIFACTORIAL GENETIC DISEASE AND TESTING KIT
Document Type and Number:
WIPO Patent Application WO/2020/111169
Kind Code:
A1
Abstract:
The present invention can be used as a method for testing for the risk of morbidity or for a disease from a functional polymorphism (functional SNP) of a gene of a functional protein which is assumed to be abnormal or responsible for the disease. Since the risk of morbidity for a multifunctional genetic disease can be tested by analyzing a functional SNP, the present invention can be used to assist diagnosis and prevent the disease. Provided are a method, testing chip, and testing kit for testing functional SNPs.
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Inventors:
IYO MASAOMI (JP)
KANAHARA NOBUHISA (JP)
OISHI KENGO (JP)
TAKASE MASAYUKI (JP)
KANAHARA NOBUHISA (JP)
OISHI KENGO (JP)
TAKASE MASAYUKI (JP)
Application Number:
PCT/JP2019/046519
Publication Date:
June 04, 2020
Filing Date:
November 28, 2019
Export Citation:
Assignee:
UNIV CHIBA NAT UNIV CORP (JP)
International Classes:
C12M1/00; C12Q1/6827; G01N33/50
Domestic Patent References:
| WO2018098292A2 | 2018-05-31 |
Foreign References:
| JP2012526562A | 2012-11-01 | |||
| JP2003521879A | 2003-07-22 | |||
| JP2018157776A | 2018-10-11 | |||
| JP2008529524A | 2008-08-07 | |||
| JP2010511380A | 2010-04-15 | |||
| JP2010507388A | 2010-03-11 | |||
| JP2018186768A | 2018-11-29 |
Other References:
OISHI, K. ET AL.: "Vulnerable combinations of functional dopaminergic polymorphisms to late- onset treatment resistant schizophrenia", PLOS ONE, vol. 13, no. 11, 8 November 2018 (2018-11-08), pages 1 - 10, XP055713561
OISHI, KENGO: "Proposal for a new risk assessment method of late-onset treatment- resistant schizophrenia by a comprehensive assessment of functional single nucleotide polymorphisms", CHIBA UNIVERSITY REPOSITORY FOR ACCESS TO OUTCOMES FROM RESEARCH, 30 September 2018 (2018-09-30), pages 1 - 4
TERZIC, T. ET AL.: "GENETIC POLYMORPHISMS IN DOPAMINERGIC SYSTEM AND TREATMENT-RESISTANT SCHIZOPHRENIA", PSYCHIATRIA DANUBINA, vol. 28, no. 2, 2016, pages 127 - 131, XP055713564
OISHI, KENGO ET AL.: "Human genome diversity: Risk of Dopamine Hypersensitivity", CHIBA MEDICAL JOURNAL, vol. 94, no. 5, 1 October 2018 (2018-10-01), pages 191 - 194
NISHI, AKITO ET AL.: "Rheumatoid arthritis and disease susceptibility gene", KAGAKU TO SEIBUTSU, vol. 42, no. 8, 2004, pages 526 - 527
OZAKI, KOICHI ET AL.: "Molecular genetics of coronary artery disease", JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, vol. 266, no. 5, 4 August 2018 (2018-08-04), pages 441 - 448
VESPASIANI-GENTILUCCI, U. ET AL., COMBINING GENETIC VARIANTS TO IMPROVE RISK PREDICTION FOR NAFLD AND ITS PROGRESSION TO CIRRHOSIS: A PROOF OF CONCEPT STUDY, 14 March 2018 (2018-03-14), pages 1 - 9, XP055713637
ALZUBI, R. ET AL.: "SNPs-based Hypertension Disease Detection via Machine Learning Techniques", 2018 24TH INTERNATIONAL CONFERENCE ON AUTOMATION AND COMPUTING (ICAC, 6 September 2018 (2018-09-06), pages 1 - 6, XP033571376, DOI: 10.23919/IConAC.2018.8748972
GOTO, A. ET AL.: "Predictive performance of a genetic risk score using 11 susceptibility alleles for incidence of Type 2 diabetes in a general Japanese population: a nested case-control study", DIABETIC MEDICINE, vol. 35, 14 February 2018 (2018-02-14), pages 602 - 611, XP055713636
CADZOW, M. ET AL.: "Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank", ARTHRITIS RESEARCH & THERAPY, vol. 19, no. 181, 9 August 2017 (2017-08-09), pages 1 - 7, XP055713634
TUNG, MIN-CHE ET AL.: "Dopamine receptor D2 genetic variations is associated with the risk and clinicopathological variables of urothelial cell carcinoma in a Taiwan ese population", INTERNATIONAL JOURNAL OF MEDICAL SCIENCES, vol. 15, 30 July 2018 (2018-07-30), pages 1187 - 1193, XP055713633
VAN DEN BROECK, T. ET AL.: "The Role of Single Nucleotide Polymorphisms in Predicting Prostate Cancer Risk and Therapeutic Decision Making", BIOMED RESEARCH INTERNATIONAL, vol. 2014, 2014, pages 1 - 16, XP055713632
MAYA, SHIGERU ET AL.: "A method to identify disease- related SNP combinations using mutual information", RESEARCH DOCUMENTS OF THE JAPANESE SOCIETY FOR ARTIFICIAL INTELLIGENCE, vol. B5, no. 03, 25 March 2016 (2016-03-25), pages 29 - 34
HU , J. ET AL.: "The role of tyrosine hydroxylase gene variants in suicide attempt in schizophrenia", NEUROSCIENCE LETTERS, vol. 559, 2014, pages 39 - 43, XP028813221, DOI: 10.1016/j.neulet.2013.11.025
GIEGLING, I. ET AL.: "Dopa Decarboxylase and Tyrosine Hydroxylase Gene Variants in Suicidal Behavior", AMERICAN JOURNAL OF MEDICAL GENETICS PART B, vol. 147 B, 2008, pages 308 - 315, XP055713618
HE, H. ET AL.: "Associations between dopamine D2 receptor gene polymorphisms and schizophrenia risk: a PRISMA compliant meta-analysis", NEUROPSYCHIATRIC DISEASE AND TREATMENT, vol. 12, 2016, pages 3129 - 3144, XP055713610
PERKOVIC, M. N. ET AL.: "Monoamine oxidase and agitation in psychiatric patients", PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY, vol. 69, 4 February 2016 (2016-02-04), pages 131 - 146, XP029531711, DOI: 10.1016/j.pnpbp.2016.02.002
OISHI, K. ET AL.: "Genetic combination risk for schizophrenia", SCHIZOPHRENIA RESEARCH, 30 August 2019 (2019-08-30), pages 1 - 14, XP086052782
OISHI, K. ET AL.: "Genetic risks of schizophrenia identified in a matched case-control study", BIORXIV, 13 July 2019 (2019-07-13), pages 1 - 17, XP055713601
OISHI, KENGO: "Proposal for a new risk assessment method of late-onset treatment- resistant schizophrenia by a comprehensive assessment of functional single nucleotide polymorphisms", CHIBA UNIVERSITY REPOSITORY FOR ACCESS TO OUTCOMES FROM RESEARCH, 30 September 2018 (2018-09-30), pages 1 - 4
TERZIC, T. ET AL.: "GENETIC POLYMORPHISMS IN DOPAMINERGIC SYSTEM AND TREATMENT-RESISTANT SCHIZOPHRENIA", PSYCHIATRIA DANUBINA, vol. 28, no. 2, 2016, pages 127 - 131, XP055713564
OISHI, KENGO ET AL.: "Human genome diversity: Risk of Dopamine Hypersensitivity", CHIBA MEDICAL JOURNAL, vol. 94, no. 5, 1 October 2018 (2018-10-01), pages 191 - 194
NISHI, AKITO ET AL.: "Rheumatoid arthritis and disease susceptibility gene", KAGAKU TO SEIBUTSU, vol. 42, no. 8, 2004, pages 526 - 527
OZAKI, KOICHI ET AL.: "Molecular genetics of coronary artery disease", JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, vol. 266, no. 5, 4 August 2018 (2018-08-04), pages 441 - 448
VESPASIANI-GENTILUCCI, U. ET AL., COMBINING GENETIC VARIANTS TO IMPROVE RISK PREDICTION FOR NAFLD AND ITS PROGRESSION TO CIRRHOSIS: A PROOF OF CONCEPT STUDY, 14 March 2018 (2018-03-14), pages 1 - 9, XP055713637
ALZUBI, R. ET AL.: "SNPs-based Hypertension Disease Detection via Machine Learning Techniques", 2018 24TH INTERNATIONAL CONFERENCE ON AUTOMATION AND COMPUTING (ICAC, 6 September 2018 (2018-09-06), pages 1 - 6, XP033571376, DOI: 10.23919/IConAC.2018.8748972
GOTO, A. ET AL.: "Predictive performance of a genetic risk score using 11 susceptibility alleles for incidence of Type 2 diabetes in a general Japanese population: a nested case-control study", DIABETIC MEDICINE, vol. 35, 14 February 2018 (2018-02-14), pages 602 - 611, XP055713636
CADZOW, M. ET AL.: "Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank", ARTHRITIS RESEARCH & THERAPY, vol. 19, no. 181, 9 August 2017 (2017-08-09), pages 1 - 7, XP055713634
TUNG, MIN-CHE ET AL.: "Dopamine receptor D2 genetic variations is associated with the risk and clinicopathological variables of urothelial cell carcinoma in a Taiwan ese population", INTERNATIONAL JOURNAL OF MEDICAL SCIENCES, vol. 15, 30 July 2018 (2018-07-30), pages 1187 - 1193, XP055713633
VAN DEN BROECK, T. ET AL.: "The Role of Single Nucleotide Polymorphisms in Predicting Prostate Cancer Risk and Therapeutic Decision Making", BIOMED RESEARCH INTERNATIONAL, vol. 2014, 2014, pages 1 - 16, XP055713632
MAYA, SHIGERU ET AL.: "A method to identify disease- related SNP combinations using mutual information", RESEARCH DOCUMENTS OF THE JAPANESE SOCIETY FOR ARTIFICIAL INTELLIGENCE, vol. B5, no. 03, 25 March 2016 (2016-03-25), pages 29 - 34
HU , J. ET AL.: "The role of tyrosine hydroxylase gene variants in suicide attempt in schizophrenia", NEUROSCIENCE LETTERS, vol. 559, 2014, pages 39 - 43, XP028813221, DOI: 10.1016/j.neulet.2013.11.025
GIEGLING, I. ET AL.: "Dopa Decarboxylase and Tyrosine Hydroxylase Gene Variants in Suicidal Behavior", AMERICAN JOURNAL OF MEDICAL GENETICS PART B, vol. 147 B, 2008, pages 308 - 315, XP055713618
HE, H. ET AL.: "Associations between dopamine D2 receptor gene polymorphisms and schizophrenia risk: a PRISMA compliant meta-analysis", NEUROPSYCHIATRIC DISEASE AND TREATMENT, vol. 12, 2016, pages 3129 - 3144, XP055713610
PERKOVIC, M. N. ET AL.: "Monoamine oxidase and agitation in psychiatric patients", PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY, vol. 69, 4 February 2016 (2016-02-04), pages 131 - 146, XP029531711, DOI: 10.1016/j.pnpbp.2016.02.002
OISHI, K. ET AL.: "Genetic combination risk for schizophrenia", SCHIZOPHRENIA RESEARCH, 30 August 2019 (2019-08-30), pages 1 - 14, XP086052782
OISHI, K. ET AL.: "Genetic risks of schizophrenia identified in a matched case-control study", BIORXIV, 13 July 2019 (2019-07-13), pages 1 - 17, XP055713601
Attorney, Agent or Firm:
SHIRAKATA Yumiko (JP)
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