DK2704800T3 - PROCEDURES FOR Predicting the development of complement-mediated disease - Google Patents

PROCEDURES FOR Predicting the development of complement-mediated disease Download PDF

Info

Publication number
DK2704800T3
DK2704800T3 DK12776262.3T DK12776262T DK2704800T3 DK 2704800 T3 DK2704800 T3 DK 2704800T3 DK 12776262 T DK12776262 T DK 12776262T DK 2704800 T3 DK2704800 T3 DK 2704800T3
Authority
DK
Denmark
Prior art keywords
subject
haplotypes
complement
haplotype
snps
Prior art date
Application number
DK12776262.3T
Other languages
Danish (da)
English (en)
Inventor
Christian Matthew Pappas
Eric N Brown
David Hutcheson
Gregory S Hageman
Original Assignee
Univ Utah Res Found
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 Univ Utah Res Found filed Critical Univ Utah Res Found
Application granted granted Critical
Publication of DK2704800T3 publication Critical patent/DK2704800T3/en

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00Drugs for disorders of the senses
    • A61P27/02Ophthalmic agents
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53Immunoassay; Biospecific binding assay; Materials therefor
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00Applications; Uses
    • C12N2320/30Special therapeutic applications
    • C12N2320/34Allele or polymorphism specific uses
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2565/00Nucleic acid analysis characterised by mode or means of detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2565/00Nucleic acid analysis characterised by mode or means of detection
    • C12Q2565/50Detection characterised by immobilisation to a surface
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2565/00Nucleic acid analysis characterised by mode or means of detection
    • C12Q2565/50Detection characterised by immobilisation to a surface
    • C12Q2565/501Detection characterised by immobilisation to a surface being an array of oligonucleotides
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/118Prognosis of disease development
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/435Assays involving biological materials from specific organisms or of a specific nature from animals; from humans
    • G01N2333/46Assays involving biological materials from specific organisms or of a specific nature from animals; from humans from vertebrates
    • G01N2333/47Assays involving proteins of known structure or function as defined in the subgroups
    • G01N2333/4701Details
    • G01N2333/4716Complement proteins, e.g. anaphylatoxin, C3a, C5a
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/16Ophthalmology
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/16Ophthalmology
    • G01N2800/164Retinal disorders, e.g. retinopathy
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/28Neurological disorders
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/50Determining the risk of developing a disease
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/54Determining the risk of relapse
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/56Staging of a disease; Further complications associated with the disease
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/60Complex 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)
DK12776262.3T 2011-04-29 2012-04-27 PROCEDURES FOR Predicting the development of complement-mediated disease DK2704800T3 (en)

Applications Claiming Priority (2)

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

Publications (1)

Publication Number Publication Date
DK2704800T3 true DK2704800T3 (en) 2019-01-14

Family

ID=47073084

Family Applications (1)

Application Number Title Priority Date Filing Date
DK12776262.3T DK2704800T3 (en) 2011-04-29 2012-04-27 PROCEDURES FOR Predicting the development of complement-mediated disease

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)

Families Citing this family (5)

* 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
JP6829878B2 (ja) * 2017-03-10 2021-02-17 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
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

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2357257B1 (en) * 2005-02-14 2019-07-31 University of Iowa Research Foundation Methods and reagents for treatment and diagnosis of age-related macular degeneration
CA2599080A1 (en) * 2005-03-04 2006-09-14 Duke University Genetic variants increase the risk of age-related macular degeneration
NZ574046A (en) * 2006-07-13 2012-09-28 Univ Iowa Res Found Methods and reagents for treatment and diagnosis of vascular disorders and age-related macular degeneration
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
JP2014515012A (ja) * 2011-03-15 2014-06-26 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 血管関連黄斑症およびその症状の診断および治療方法
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)

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
JP2014513958A (ja) 2014-06-19
CN103874526A (zh) 2014-06-18
EP2704800A2 (en) 2014-03-12
US20180155788A1 (en) 2018-06-07
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
US20200239958A1 (en) Methods of predicting the development of complement-mediated disease
Mootha et al. Association and familial segregation of CTG18. 1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy
Gajecka et al. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32
Lam et al. A genome-wide scan maps a novel high myopia locus to 5p15
US8053190B2 (en) Susceptibility genes for age-related maculopathy (ARM) on chromosome 10q26
CN102177436B (zh) 鉴定疾病风险因子的方法
US20210180129A1 (en) Methods of predicting the development of amd based on chromosome 1 and chromosome10
US20070037183A1 (en) Diagnostic and therapeutic target for macular degeneration
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
Kondo et al. Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology
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
WO2013035861A1 (ja) 加齢黄斑変性の易罹患性判定方法、プライマー対、プローブ、加齢黄斑変性診断キット、加齢黄斑変性の治療薬及び加齢黄斑変性の治療薬のスクリーニング方法
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).
Wang Gene discovery for age-related macular degeneration
Jakobsdóttir Genetics of age-related maculopathy & Score statistics for X-linked quantitative trait loci