JP2014513958A - 補体媒介性疾患の発症を予測する方法 - Google Patents

補体媒介性疾患の発症を予測する方法 Download PDF

Info

Publication number
JP2014513958A
JP2014513958A JP2014508602A JP2014508602A JP2014513958A JP 2014513958 A JP2014513958 A JP 2014513958A JP 2014508602 A JP2014508602 A JP 2014508602A JP 2014508602 A JP2014508602 A JP 2014508602A JP 2014513958 A JP2014513958 A JP 2014513958A
Authority
JP
Japan
Prior art keywords
subject
age
macular degeneration
related macular
haplotype
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
JP2014508602A
Other languages
English (en)
Japanese (ja)
Other versions
JP2014513958A5 (enExample
Inventor
グレゴリー エス ヘイジマン
クリスティアン マシュー パッパス
エリック エヌ ブラウン
デイヴィッド ハッチェソン
Original Assignee
ユニヴァーシティー オブ ユタ リサーチ ファウンデーション
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by ユニヴァーシティー オブ ユタ リサーチ ファウンデーション filed Critical ユニヴァーシティー オブ ユタ リサーチ ファウンデーション
Publication of JP2014513958A publication Critical patent/JP2014513958A/ja
Publication of JP2014513958A5 publication Critical patent/JP2014513958A5/ja
Pending legal-status Critical Current

Links

Images

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/34—Allele or polymorphism specific uses
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2565/00—Nucleic acid analysis characterised by mode or means of detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2565/00—Nucleic acid analysis characterised by mode or means of detection
    • C12Q2565/50—Detection characterised by immobilisation to a surface
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2565/00—Nucleic acid analysis characterised by mode or means of detection
    • C12Q2565/50—Detection characterised by immobilisation to a surface
    • C12Q2565/501—Detection characterised by immobilisation to a surface being an array of oligonucleotides
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/118—Prognosis of disease development
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/435—Assays involving biological materials from specific organisms or of a specific nature from animals; from humans
    • G01N2333/46—Assays involving biological materials from specific organisms or of a specific nature from animals; from humans from vertebrates
    • G01N2333/47—Assays involving proteins of known structure or function as defined in the subgroups
    • G01N2333/4701—Details
    • G01N2333/4716—Complement proteins, e.g. anaphylatoxin, C3a, C5a
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/16—Ophthalmology
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/16—Ophthalmology
    • G01N2800/164—Retinal disorders, e.g. retinopathy
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/50—Determining the risk of developing a disease
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/54—Determining the risk of relapse
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/56—Staging of a disease; Further complications associated with the disease
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/60—Complex ways of combining multiple protein biomarkers for diagnosis

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Urology & Nephrology (AREA)
  • Medicinal Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Ophthalmology & Optometry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Cell Biology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
JP2014508602A 2011-04-29 2012-04-27 補体媒介性疾患の発症を予測する方法 Pending JP2014513958A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161480929P 2011-04-29 2011-04-29
US61/480,929 2011-04-29
PCT/US2012/035467 WO2012149329A2 (en) 2011-04-29 2012-04-27 Methods of predicting the development of complement-mediated disease

Publications (2)

Publication Number Publication Date
JP2014513958A true JP2014513958A (ja) 2014-06-19
JP2014513958A5 JP2014513958A5 (enExample) 2015-07-16

Family

ID=47073084

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2014508602A Pending JP2014513958A (ja) 2011-04-29 2012-04-27 補体媒介性疾患の発症を予測する方法

Country Status (11)

Country Link
US (3) US20140357732A1 (enExample)
EP (1) EP2704800B1 (enExample)
JP (1) JP2014513958A (enExample)
KR (1) KR20140074258A (enExample)
CN (1) CN103874526A (enExample)
AU (1) AU2012249521A1 (enExample)
BR (1) BR112013027851A2 (enExample)
CA (1) CA2834676A1 (enExample)
DK (1) DK2704800T3 (enExample)
SG (1) SG194235A1 (enExample)
WO (1) WO2012149329A2 (enExample)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2018148827A (ja) * 2017-03-10 2018-09-27 国立大学法人浜松医科大学 加齢黄斑変性の発症リスクの評価方法

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10155983B2 (en) 2014-03-31 2018-12-18 Machaon Diagnostics, Inc. Method of diagnosis of complement-mediated thrombotic microangiopathies
EP3824095A4 (en) 2018-07-20 2022-04-20 University of Utah Research Foundation GENE THERAPY FOR MACULATE GENERATION
KR102333953B1 (ko) * 2020-07-10 2021-12-02 인제대학교 산학협력단 신규한 황반변성 진단용 유전자 마커
CN119694384B (zh) * 2024-12-03 2025-10-03 南京医科大学 基于汇总统计数据的复杂性状关联基因检测方法及系统

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2006096561A2 (en) * 2005-03-04 2006-09-14 Duke University Genetic variants increase the risk of age-related macular degeneration
JP2008529536A (ja) * 2005-02-14 2008-08-07 ユニバーシティー オブ アイオワ リサーチ ファウンデーション 加齢性黄斑変性を処置および診断するための方法および試薬
JP2009544280A (ja) * 2006-07-13 2009-12-17 ユニバーシティー オブ アイオワ リサーチ ファンデーション 血管障害および加齢黄斑変性症の治療および診断のための方法および試薬
WO2012125869A1 (en) * 2011-03-15 2012-09-20 University Of Utah Research Foundation Methods of diagnosing and treating vascular associated maculopathy and symptoms thereof

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2704809A1 (en) * 2007-11-01 2009-05-07 University Of Iowa Research Foundation Rca locus analysis to assess susceptibility to amd and mpgnii
US8114592B2 (en) * 2008-03-18 2012-02-14 Cambridge Enterprise Limited Genetic markers associated with age-related macular degeneration, methods of detection and uses thereof
US20120115925A1 (en) * 2008-12-23 2012-05-10 Massachusetts Eye And Ear Infirmary Allelic Variants Associated with Advanced Age-Related Macular Degeneration
WO2012051462A2 (en) * 2010-10-14 2012-04-19 Sequenom, Inc. Complement factor h copy number variants found in the rca locus
WO2012082912A2 (en) * 2010-12-14 2012-06-21 Tufts Medical Center, Inc. Markers related to age-related macular degeneration and uses therefor
WO2014043558A1 (en) * 2012-09-14 2014-03-20 University Of Utah Research Foundation Methods of predicting the development of amd based on chromosome 1 and chromosome 10
US9896728B2 (en) * 2013-01-29 2018-02-20 Arcticrx Ltd. Method for determining a therapeutic approach for the treatment of age-related macular degeneration (AMD)

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2008529536A (ja) * 2005-02-14 2008-08-07 ユニバーシティー オブ アイオワ リサーチ ファウンデーション 加齢性黄斑変性を処置および診断するための方法および試薬
WO2006096561A2 (en) * 2005-03-04 2006-09-14 Duke University Genetic variants increase the risk of age-related macular degeneration
JP2009544280A (ja) * 2006-07-13 2009-12-17 ユニバーシティー オブ アイオワ リサーチ ファンデーション 血管障害および加齢黄斑変性症の治療および診断のための方法および試薬
WO2012125869A1 (en) * 2011-03-15 2012-09-20 University Of Utah Research Foundation Methods of diagnosing and treating vascular associated maculopathy and symptoms thereof

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2018148827A (ja) * 2017-03-10 2018-09-27 国立大学法人浜松医科大学 加齢黄斑変性の発症リスクの評価方法

Also Published As

Publication number Publication date
WO2012149329A2 (en) 2012-11-01
EP2704800A4 (en) 2015-04-29
SG194235A1 (en) 2013-12-30
EP2704800B1 (en) 2018-09-12
CA2834676A1 (en) 2012-11-01
WO2012149329A3 (en) 2012-12-20
US20140357732A1 (en) 2014-12-04
CN103874526A (zh) 2014-06-18
EP2704800A2 (en) 2014-03-12
US20180155788A1 (en) 2018-06-07
DK2704800T3 (en) 2019-01-14
US20200239958A1 (en) 2020-07-30
KR20140074258A (ko) 2014-06-17
BR112013027851A2 (pt) 2017-11-07
AU2012249521A1 (en) 2013-11-14

Similar Documents

Publication Publication Date Title
US10865449B2 (en) Method of identifying disease risk factors
Lam et al. A genome-wide scan maps a novel high myopia locus to 5p15
US20200239958A1 (en) Methods of predicting the development of complement-mediated disease
Alkelai et al. Identification of new schizophrenia susceptibility loci in an ethnically homogeneous, family‐based, Arab‐Israeli sample
US20150292016A1 (en) Novel markers for mental disorders
US20200155494A1 (en) Method for treating idiopathic pulmonary fibrosis
US20140141432A1 (en) Method and kit for diagnosing glaucoma in dogs
Vincent et al. Characterization of a de novo translocation t (5; 18)(q33. 1; q12. 1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q
EP1673472B1 (en) Use of genetic polymorphisms to predict drug-induced hepatotoxicity
McGrattan et al. DETECTION OF A 12P13 CHROMOSOME ANOMALY INVOLVING ETV6 AT RELAPSE IN AN ADOLESCENT PRESENTING WITH CYTOGENETICALLY NORMAL, FLT3-ITD+, TYPE A NPM1+ DE NOVO AML (M5 FAB-TYPE).
Tucci The use of next generation sequencing technologies to dissect the aetiologies of neurodegenerative diseases
WO2015074165A2 (zh) 精神分裂症致病基因及用途

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20150427

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20150427

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20150526

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20160222

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20160519

A02 Decision of refusal

Free format text: JAPANESE INTERMEDIATE CODE: A02

Effective date: 20161026