EP1989319A4 - Variants in complement regulatory genes predict age-related macular degeneration - Google Patents

Variants in complement regulatory genes predict age-related macular degeneration

Info

Publication number
EP1989319A4
EP1989319A4 EP07750527A EP07750527A EP1989319A4 EP 1989319 A4 EP1989319 A4 EP 1989319A4 EP 07750527 A EP07750527 A EP 07750527A EP 07750527 A EP07750527 A EP 07750527A EP 1989319 A4 EP1989319 A4 EP 1989319A4
Authority
EP
European Patent Office
Prior art keywords
variants
macular degeneration
related macular
regulatory genes
complement regulatory
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.)
Withdrawn
Application number
EP07750527A
Other languages
German (de)
French (fr)
Other versions
EP1989319A2 (en
Inventor
Rando L Allikmets
Gregory S Hageman
Michael C Dean
Albert M Gold
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
University of Iowa Research Foundation UIRF
Columbia University of New York
National Institutes of Health NIH
Original Assignee
University of Iowa Research Foundation UIRF
Columbia University of New York
National Institutes of Health NIH
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 University of Iowa Research Foundation UIRF, Columbia University of New York, National Institutes of Health NIH filed Critical University of Iowa Research Foundation UIRF
Publication of EP1989319A2 publication Critical patent/EP1989319A2/en
Publication of EP1989319A4 publication Critical patent/EP1989319A4/en
Withdrawn legal-status Critical Current

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
    • 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
    • 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
    • C12Q2600/112Disease subtyping, staging or classification
    • 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
    • C12Q2600/156Polymorphic or mutational markers
    • 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
    • C12Q2600/158Expression markers
    • 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
EP07750527A 2006-02-13 2007-02-13 Variants in complement regulatory genes predict age-related macular degeneration Withdrawn EP1989319A4 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US77298906P 2006-02-13 2006-02-13
PCT/US2007/003696 WO2007095185A2 (en) 2006-02-13 2007-02-13 Variants in complement regulatory genes predict age-related macular degeneration

Publications (2)

Publication Number Publication Date
EP1989319A2 EP1989319A2 (en) 2008-11-12
EP1989319A4 true EP1989319A4 (en) 2009-11-11

Family

ID=38372062

Family Applications (1)

Application Number Title Priority Date Filing Date
EP07750527A Withdrawn EP1989319A4 (en) 2006-02-13 2007-02-13 Variants in complement regulatory genes predict age-related macular degeneration

Country Status (8)

Country Link
EP (1) EP1989319A4 (en)
JP (1) JP5290772B2 (en)
CN (1) CN101421409A (en)
AU (1) AU2007215218B2 (en)
CA (1) CA2638916A1 (en)
IL (1) IL193396A (en)
NZ (1) NZ570431A (en)
WO (1) WO2007095185A2 (en)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8012683B2 (en) 2006-02-13 2011-09-06 University Of Iowa Research Foundation Variants in complement regulatory genes predict age-related macular degeneration
WO2010127176A2 (en) * 2009-04-29 2010-11-04 Massachusetts Eye And Ear Infirmary Methods and compositions for prognosing detecting age-related macular degeneration
CA2781595C (en) * 2009-07-10 2016-07-05 The Regents Of The University Of Michigan Compositions and methods for diagnosing and treating macular degeneration
WO2011053774A1 (en) * 2009-10-30 2011-05-05 Alcon Research, Ltd. Single nucleotide polymorphisms and genes associated with age-related macular degeneration
US9056874B2 (en) 2012-05-04 2015-06-16 Novartis Ag Complement pathway modulators and uses thereof
CN102707068B (en) * 2012-05-31 2015-03-18 北京大学 Application of complement factor H (CFH) to genetic expression products of methamphetamine (METH) addiction patient
CN105229003B (en) 2013-03-14 2017-03-15 诺华股份有限公司 It is used for 2 (4 ylmethyl of 1H indole) 3H imidazos [4,5 B] 6 6-carbonitrile derivatives of pyridine for treating ophthalmic diseasess as complement factor B inhibitor
JP2016535042A (en) 2013-10-30 2016-11-10 ノバルティス アーゲー 2-Benzyl-benzimidazole complement factor B inhibitor and uses thereof
WO2015120130A1 (en) * 2014-02-07 2015-08-13 Novartis Ag Impact of genetic factors on disease progression and response to anti-c5 antibody in geographic atrophy
WO2016100745A2 (en) * 2014-12-19 2016-06-23 Children's Hospital Medical Center Methods and compositions related to transplant-associated thrombotic microangiopathy
CN109082460B (en) * 2018-09-27 2021-07-13 领航基因科技(杭州)有限公司 Non-competitive probe design method, detection method and application applied to SNP typing

Citations (1)

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Publication number Priority date Publication date Assignee Title
WO2006062716A2 (en) * 2004-11-18 2006-06-15 Yale University Methods and compositions for treating ocular disorders

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EP0155950B1 (en) 1983-09-02 1990-01-17 Molecular Biosystems, Inc. Oligonucleotide polymeric support system
GB8810400D0 (en) 1988-05-03 1988-06-08 Southern E Analysing polynucleotide sequences
US5474796A (en) * 1991-09-04 1995-12-12 Protogene Laboratories, Inc. Method and apparatus for conducting an array of chemical reactions on a support surface
US5554501A (en) 1992-10-29 1996-09-10 Beckman Instruments, Inc. Biopolymer synthesis using surface activated biaxially oriented polypropylene
AU2360195A (en) 1994-05-05 1995-11-29 Beckman Instruments, Inc. Oligonucleotide repeat arrays
US5985567A (en) 1997-08-15 1999-11-16 Beckman Coulter, Inc. Hybridization detection by pretreating bound single-stranded probes
US6013789A (en) 1998-02-20 2000-01-11 Beckman Coulter, Inc. Covalent attachment of biomolecules to derivatized polypropylene supports

Patent Citations (1)

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Publication number Priority date Publication date Assignee Title
WO2006062716A2 (en) * 2004-11-18 2006-06-15 Yale University Methods and compositions for treating ocular disorders

Non-Patent Citations (23)

* Cited by examiner, † Cited by third party
Title
"Homo sapiens bead probe urn: LSID:sanger.hapmap.org:Assay:1730462:1 for variation rs4151667", Retrieved from the Internet <URL:http://www.ncbi.nlm.nih.gov/probe/?term=pr501784&report=fullreport> *
"Homo sapiens bead probe urn:LSID:sanger.hapmap.org:Assay:1727808:1 for variation rs641153", Retrieved from the Internet <URL:http://www.ncbi.nlm.nih.gov/probe/503071?report=fullreport> *
"Homo sapiens SSO probe urn:lsid:perlegen.hapmap.org:Assay:25175.4056446:1 for variation rs547154", Retrieved from the Internet <URL:http://www.ncbi.nlm.nih.gov/probe/3131349> *
CHARBEL ISSA P ET AL: "The complement system and its possible role in the pathogenesis of age-related macular degeneration (AMD)", OPHTHALMOLOGE 2005 GERMANY, vol. 102, no. 11, 2005, pages 1036 - 1042, XP002452750, ISSN: 0941-293X *
DATABASE HAPMAP PROJECT HOMPAGE [online] XP002452762, retrieved from HTTP://WWW.HAPMAP.ORG/DOWNLOADS/ASSAY-DESIGN_PROTOCOLS.HTML *
DATABASE PROBE [online] 16 September 2005 (2005-09-16), XP002452757, retrieved from NCBI Database accession no. Pr503071 *
DATABASE PROBE [online] 16 September 2005 (2005-09-16), XP002452758, retrieved from NCBI Database accession no. Pr501784 *
DATABASE PROBE [online] 24 January 2006 (2006-01-24), XP002452761, retrieved from NCBI Database accession no. Pr003249825 *
DATABASE PROBE [online] 25 January 2006 (2006-01-25), XP002452759, retrieved from NCBI Database accession no. Pr003131349 *
DATABASE PROBE [online] 5 October 2005 (2005-10-05), XP002452760, retrieved from NCBI Database accession no. Pr001347746 *
DATABASE SNP [online] 3 December 2002 (2002-12-03), XP002550606, retrieved from NCBI Database accession no. rs641153 *
DATABASE SNP [online] 3 December 2002 (2002-12-03), XP002550607, retrieved from NCBI Database accession no. rs4151667 *
DATABASE SNP [online] 3 December 2002 (2002-12-03), XP002550609, retrieved from NCBI Database accession no. rs1048709 *
DATABASE SNP [online] 3 September 2003 (2003-09-03), XP002550605, retrieved from NCBI Database accession no. rs9332739 *
DATABASE SNP [online] 3 September 2003 (2003-09-03), XP002550608, retrieved from NCBI Database accession no. rs547154 *
FAN BAO JIAN ET AL: "Molecular diagnostics of genetic eye diseases", CLINICAL BIOCHEMISTRY, vol. 39, no. 3, January 2006 (2006-01-01), pages 231 - 239, XP002452749, ISSN: 0009-9120 *
GOLD BERT ET AL: "Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration", NATURE GENETICS, vol. 38, no. 4, April 2006 (2006-04-01), pages 458 - 462, XP002452747, ISSN: 1061-4036 *
GUNDERSON KEVIN L ET AL: "A genome-wide scalable SNP genotyping assay using microarray technology", NATURE GENETICS, vol. 37, no. 5, May 2005 (2005-05-01), pages 549 - 554, XP002452745, ISSN: 1061-4036 *
HAGEMAN GREGORY S ET AL: "A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol. 102, no. 20, May 2005 (2005-05-01), pages 7227 - 7232, XP002391909, ISSN: 0027-8424 *
MALLER JULIAN ET AL: "Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration", NATURE GENETICS, vol. 38, no. 9, September 2006 (2006-09-01), pages 1055 - 1059, XP002452748, ISSN: 1061-4036 *
MATSUZAKI HAJIME ET AL: "GENOTYPING OVER 100,000 SNPS ON A PAIR OF OLIGONUCLEOTIDE ARRAYS", NATURE METHODS, vol. 1, no. 2, 1 November 2004 (2004-11-01), NATURE PUBLISHING GROUP, GB, pages 109 - 111, XP009082656, ISSN: 1548-7091, DOI: 10.1038/NMETH718 *
See also references of WO2007095185A2 *
ZIPFEL P F ET AL: "Complement and diseases: Defective alternative pathway control results in kidney and eye diseases", MOLECULAR IMMUNOLOGY, PERGAMON, GB, vol. 43, no. 1-2, 1 January 2006 (2006-01-01), pages 97 - 106, XP025037099, ISSN: 0161-5890, [retrieved on 20060101] *

Also Published As

Publication number Publication date
CN101421409A (en) 2009-04-29
JP2009526524A (en) 2009-07-23
CA2638916A1 (en) 2007-08-23
IL193396A (en) 2013-03-24
IL193396A0 (en) 2009-05-04
WO2007095185A2 (en) 2007-08-23
EP1989319A2 (en) 2008-11-12
AU2007215218A1 (en) 2007-08-23
JP5290772B2 (en) 2013-09-18
WO2007095185A3 (en) 2008-09-25
AU2007215218B2 (en) 2013-09-19
NZ570431A (en) 2011-12-22

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