WO2004067774A2 - Polymorphismes de nucleotide simple utilises en tant que diagnostics predictifs d'effet indesirable (adr) et d'efficacite d'un medicament - Google Patents

Polymorphismes de nucleotide simple utilises en tant que diagnostics predictifs d'effet indesirable (adr) et d'efficacite d'un medicament Download PDF

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Publication number
WO2004067774A2
WO2004067774A2 PCT/EP2004/000539 EP2004000539W WO2004067774A2 WO 2004067774 A2 WO2004067774 A2 WO 2004067774A2 EP 2004000539 W EP2004000539 W EP 2004000539W WO 2004067774 A2 WO2004067774 A2 WO 2004067774A2
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WO
WIPO (PCT)
Prior art keywords
gene
polypeptide
polymoφhic
drug
genes
Prior art date
Application number
PCT/EP2004/000539
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English (en)
Other versions
WO2004067774A3 (fr
Inventor
Udo Stropp
Stephan Schwers
Harald Kallabis
Original Assignee
Bayer Healthcare Ag
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.)
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Publication date
Application filed by Bayer Healthcare Ag filed Critical Bayer Healthcare Ag
Priority to EP04704556A priority Critical patent/EP1592808A2/fr
Publication of WO2004067774A2 publication Critical patent/WO2004067774A2/fr
Publication of WO2004067774A3 publication Critical patent/WO2004067774A3/fr

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Classifications

    • 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
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • G01N33/5091—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing the pathological state of an organism
    • 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
    • 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
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
    • 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
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
    • G01N33/502—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics for testing non-proliferative effects
    • 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
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • 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
    • C12Q2600/156—Polymorphic or mutational markers
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/52—Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis

Definitions

  • Heart failure is defined as a pathophysiologic state in which an abnormality of cardiac function is responsible for the failure of the heart to pump blood at a rate commensurate with the requirement of the metabolizing tissue. It includes all forms of pumping failure such as high-output and low-output, acute and chronic, right- sided or left-sided, systolic or diastolic, independent of the underlying cause.
  • MI Myocardial infarction
  • the first observable event in the formation of an atherosclerotic plaque occurs when blood-borne monocytes adhere to the vascular endothelial layer and transmigrate through to the sub-endothelial space. Adjacent endothelial cells at the same time produce oxidized low density lipoprotein (LDL). These oxidized LDLs are then taken up in large amounts by the monocytes through scavenger receptors expressed on their surfaces. In contrast to the regulated pathway by which native LDL (nLDL) is taken up by nLDL specific receptors, the scavenger pathway of uptake is not regulated by the monocytes.
  • LDL low density lipoprotein
  • the invention may also be of use in confirming or corroborating the results of other diagnostic methods.
  • the diagnosis of the invention may thus suitably be used either as an isolated technique or in combination with other methods and apparatus for diagnosis, in which latter case the invention provides a further test on which a diagnosis may be assessed.
  • Atherosclerosis Complications of atherosclerosis are the most common causes of death in Western societies.
  • atherosclerosis can be considered to be a form of chronic inflammation resulting from interaction modified lipoproteins, monocyte-derived macrophageSjT cells, and the normal cellular elements of the arterial wall. This inflammatory process can ultimately lead to the development of complex lesions, or plaques, that protrude into the arterial lumen. Finally plaque rupture and thrombosis result in the acute clinical complications of myocardial infarction and stroke (Glass et al., Cell 2001, 104:503-516).
  • alleles refers to alternative forms of a gene or portions thereof. Alleles occupy the same locus or position on homologous chromosomes. When a subject has two identical alleles of a gene, the subject is said to be homozygous for the gene or allele. When a subject has two different alleles of a gene, the subject is said to be heterozygous for the gene. Alleles of a specific gene can differ from each other in a single nucleotide, or several nucleotides, and can include substitutions, deletions, and insertions of nucleotides.
  • An allele of a gene can also be a form of a gene containing a mutation.
  • allelic variant of a polymorphic region of a gene refers to a region of a gene having one of several nucleotide sequences found in that region of the gene in other individuals.
  • polymorphism refers to the coexistence of more than one form of a gene or portion thereof.
  • a portion of a gene of which there are at least two different forms, i.e., two different nucleotide sequences, is referred to as a "polymorphic region of a gene".
  • a polymorphic region can be a single nucleotide, the identity of which differs in different alleles.
  • a polymorphic region can also be several nucleotides long.
  • transcription factors are active only if they are phosphorylated on specific residues.
  • transcription factors can be active in the absence of phosphorylated residues and become inactivated by phosphorylation.
  • a list of known transcription factors and their DNA binding site can be found, e.g., in public databases, e.g., TFMATRIX Transcription Factor Binding Site Profile database.
  • Interventions with pharmaceutical agents not yet known whose activity correlates with particular polymo ⁇ hic patterns associated with cardiovascular disease are also encompassed. It is contemplated, for example, that patients who are candidates for a particular therapeutic regimen will be screened for polymo ⁇ hic patterns that correlate with responsivity to that particular regimen.
  • allelic variant of the nucleotide polymo ⁇ hism of nucleotide A or G at position 33 of Seq ID 1 (baySNP179) and that of other possible polymo ⁇ hic regions can be determined in a single hybridization experiment.
  • the whole PCR reaction is transferred into a PSQ plate TM (Pyrosequencing) and prepared using the Sample Prep Tool TM and SNP Reagent Kit TM from Pyrosequencing according to their instructions.

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • Cell Biology (AREA)
  • General Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Food Science & Technology (AREA)
  • Tropical Medicine & Parasitology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Toxicology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • Physiology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)

Abstract

L'invention concerne des méthodes diagnostiques et des kits comprenant des oligo et/ou des polynucléotides ou des dérivés associés, notamment des anticorps qui déterminent si un sujet humain présente un risque de subir les effets indésirables d'un médicament après un traitement par statines, si le sujet répond faiblement ou fortement au traitement, ou s'il métabolise bien ou pas les statines. L'invention concerne également des méthodes diagnostiques et des kits comprenant des anticorps qui déterminent si un sujet humain présente un risque pour une maladie cardiovasculaire. L'invention concerne en outre des séquences polymorphiques et d'autres gènes.
PCT/EP2004/000539 2003-01-31 2004-01-23 Polymorphismes de nucleotide simple utilises en tant que diagnostics predictifs d'effet indesirable (adr) et d'efficacite d'un medicament WO2004067774A2 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
EP04704556A EP1592808A2 (fr) 2003-01-31 2004-01-23 Polymorphismes de nucleotide simple utilises en tant que diagnostics predictifs d'effet indesirable (adr) et d'efficacite d'un medicament

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
EP03002212.3 2003-01-31
EP03002212 2003-01-31
EP03002153.9 2003-02-03
EP03002153 2003-02-03

Publications (2)

Publication Number Publication Date
WO2004067774A2 true WO2004067774A2 (fr) 2004-08-12
WO2004067774A3 WO2004067774A3 (fr) 2004-10-21

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PCT/EP2004/000539 WO2004067774A2 (fr) 2003-01-31 2004-01-23 Polymorphismes de nucleotide simple utilises en tant que diagnostics predictifs d'effet indesirable (adr) et d'efficacite d'un medicament

Country Status (2)

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EP (1) EP1592808A2 (fr)
WO (1) WO2004067774A2 (fr)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2007071382A2 (fr) * 2005-12-22 2007-06-28 Siemens Medical Solutions Diagnostics Gmbh Méthode pour prédire des réponses indésirable à un médicament

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1136554A1 (fr) * 2000-03-24 2001-09-26 Bayer Aktiengesellschaft Polymorphismes du gène codant le transporteur à cassette de fixation à l'ATP 1 (ABC1), et usages pour le diagnostique et le traitement de désordres lipidiques, de maladies cardiovasculaires et de maladies inflammatoires

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1136554A1 (fr) * 2000-03-24 2001-09-26 Bayer Aktiengesellschaft Polymorphismes du gène codant le transporteur à cassette de fixation à l'ATP 1 (ABC1), et usages pour le diagnostique et le traitement de désordres lipidiques, de maladies cardiovasculaires et de maladies inflammatoires

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
DATABASE EMBL [Online] 4 June 1995 (1995-06-04), HABETS ET AL.: "Human T-lymphomia invasion and metastasis inducing TIAM1 protein (TIAM1) mRNA, complete cds." XP002279808 Database accession no. HS162961 cited in the application *
DORNBROOK-LAVENDER KIMBERLY A ET AL: "Genetic polymorphisms in emerging cardiovascular risk factors and response to statin therapy." CARDIOVASCULAR DRUGS AND THERAPY, vol. 17, no. 1, January 2003 (2003-01), pages 75-82, XP009030786 ISSN: 0920-3206 (ISSN print) *
HABETS G G M ET AL: "SEQUENCE OF THE HUMAN INVASION-INDUCING TIAM1 GENE, ITS CONSERVATION IN EVOLUTION AND ITS EXPRESSION IN TUMOR CELL LINES OF DIFFERENT TISSUE ORIGIN" ONCOGENE, BASINGSTOKE, HANTS, GB, vol. 10, no. 7, 6 April 1995 (1995-04-06), pages 1371-1376, XP002039499 ISSN: 0950-9232 *
HWANG DAVID M ET AL: "A genome-based resource for molecular cardiovascular medicine: Toward a compendium of cardiovascular genes" CIRCULATION, AMERICAN HEART ASSOCIATION, DALLAS, TX, US, vol. 96, no. 12, 16 December 1997 (1997-12-16), pages 4146-4203, XP002197842 ISSN: 0009-7322 cited in the application *
OHNISHI Y ET AL: "IDENTIFICATION OF 187 SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS) AMONG 41 CANDIDATE GENES FOR ISCHEMIC HEART DISEASE IN THE JAPANESE POPULATION" HUMAN GENETICS, BERLIN, DE, vol. 106, 2000, pages 288-292, XP002949197 ISSN: 0340-6717 *
TURNER S T ET AL: "Antihypertensive pharmacogenetics: Getting the right drug into the right patient" JOURNAL OF HYPERTENSION, CURRENT SCIENCE, PHILADELPHIA, PA, US, vol. 19, no. 1, January 2001 (2001-01), pages 1-11, XP002241062 ISSN: 0263-6352 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2007071382A2 (fr) * 2005-12-22 2007-06-28 Siemens Medical Solutions Diagnostics Gmbh Méthode pour prédire des réponses indésirable à un médicament
WO2007071382A3 (fr) * 2005-12-22 2007-10-11 Bayer Healthcare Ag Méthode pour prédire des réponses indésirable à un médicament

Also Published As

Publication number Publication date
WO2004067774A3 (fr) 2004-10-21
EP1592808A2 (fr) 2005-11-09

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