EP2016196A2 - Polymorphisme de apq5 - Google Patents

Polymorphisme de apq5

Info

Publication number
EP2016196A2
EP2016196A2 EP07765365A EP07765365A EP2016196A2 EP 2016196 A2 EP2016196 A2 EP 2016196A2 EP 07765365 A EP07765365 A EP 07765365A EP 07765365 A EP07765365 A EP 07765365A EP 2016196 A2 EP2016196 A2 EP 2016196A2
Authority
EP
European Patent Office
Prior art keywords
aqp5
polymorphism
gene
disease
genotype
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Withdrawn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
EP07765365A
Other languages
German (de)
English (en)
Inventor
Michael Adamzik
Ulrich Frey
Winfried Siffert
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.)
Universitaet Duisburg Essen
Original Assignee
Universitaet Duisburg Essen
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 Universitaet Duisburg Essen filed Critical Universitaet Duisburg Essen
Publication of EP2016196A2 publication Critical patent/EP2016196A2/fr
Withdrawn legal-status Critical Current

Links

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
    • 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
    • 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
    • C12Q2600/156—Polymorphic or mutational markers
    • 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
    • C12Q2600/158—Expression markers

Definitions

  • the invention relates to the use of a gene alteration in the human AQP5 gene to predict disease risks, disease trajectories, and to predict disease response or measures to influence the quality or appearance of the human skin.
  • AQP5 can be regulated by substances which directly or indirectly influence the content of intracellular cAMP (8) or cGMP (11) or the activity of protein kinases directly or indirectly.
  • cAMP intracellular cAMP
  • cGMP protein kinases
  • beta-adrenergic agonists dobutamine, isoprenaline, terbutaline
  • beta-blockers propranolol
  • vasopressin and prostaglandins are also included.
  • the cause of the increased capillary leak is the influence of AQP5 on the pulmonary vascular tone.
  • PAH pulmo ⁇ nalvaskulärer hypertension
  • Prosta ⁇ noide prostacyclins or nitric oxide (NO) are tested for their efficacy in PAH. This test is necessary because the pulmonary vascular tone of the patients reacts very differently to the respective drugs.
  • the AQP5-1364 SNP is responsible for allowing patients to respond to one drug and not to another, thereby significantly improving drug choice.

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Pour prévoir les risques de maladies, l'évolution de maladies et la réaction d'un patient individuel à des thérapies pharmacologiques et non pharmacologiques, on recherche un polymorphisme dans le gène APQ5, notamment dans la région du promoteur de ce gène, sur le chromosome 12q13 chez l'homme. Selon l'invention, la thérapie peut également consister en un traitement cosmétique.
EP07765365A 2006-06-19 2007-06-12 Polymorphisme de apq5 Withdrawn EP2016196A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
DE102006028009A DE102006028009A1 (de) 2006-06-19 2006-06-19 AQP5-Polymorphismus
PCT/EP2007/055731 WO2007147748A2 (fr) 2006-06-19 2007-06-12 Polymorphisme de apq5

Publications (1)

Publication Number Publication Date
EP2016196A2 true EP2016196A2 (fr) 2009-01-21

Family

ID=38608398

Family Applications (1)

Application Number Title Priority Date Filing Date
EP07765365A Withdrawn EP2016196A2 (fr) 2006-06-19 2007-06-12 Polymorphisme de apq5

Country Status (4)

Country Link
US (1) US20100136532A1 (fr)
EP (1) EP2016196A2 (fr)
DE (1) DE102006028009A1 (fr)
WO (1) WO2007147748A2 (fr)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2110443A1 (fr) * 2008-04-14 2009-10-21 Universität Duisburg-Essen Polymorphismes FNTB
KR101966515B1 (ko) 2017-04-12 2019-04-05 서울대학교산학협력단 아쿠아포린 5에 대한 자가항체를 특이적으로 인식하는 에피토프 펩타이드 및 그 용도
CN107586830B (zh) * 2017-10-21 2021-02-02 云南中烟工业有限责任公司 一种卷烟烟气对水通道蛋白5细胞mRNA表达量影响的检测方法

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20020029445A (ko) * 2000-09-09 2002-04-19 문우철 Ａｑｐ 돌연변이 유전자, ａｑｐ의 돌연변이 및 발현을이용한 암 검색 방법, 및 ａｑｐ 돌연변이 염기서열의올리고뉴클레오타이드를 갖는 ｄｎａ 칩
US20030092019A1 (en) * 2001-01-09 2003-05-15 Millennium Pharmaceuticals, Inc. Methods and compositions for diagnosing and treating neuropsychiatric disorders such as schizophrenia
WO2004077010A2 (fr) * 2003-02-03 2004-09-10 The Scripps Research Institute Analyses de voie a eau
US20040213782A1 (en) * 2003-02-03 2004-10-28 Pharmacia Corporation Compositions of an aquaporin modulating agent and an aqueous humor modulating agent for the treatment of elevated intraocular pressure
WO2005094806A1 (fr) * 2004-03-31 2005-10-13 Stichting Katholieke Universiteit Utilisation de composes d'ammonium quaternaire comme agents bloquants specifiques du transport dans l'aquaporine, compositions comprenant ces composes et procede de selection de ces composes
DE102006019794B4 (de) * 2005-05-19 2025-10-09 Basf Beauty Care Solutions France S.A.S. Kosmetische Zubereitung mit Aquaporin-Stimulatoren und deren Verwendung

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
See references of WO2007147748A2 *

Also Published As

Publication number Publication date
DE102006028009A1 (de) 2007-12-20
US20100136532A1 (en) 2010-06-03
WO2007147748A2 (fr) 2007-12-27
WO2007147748A3 (fr) 2008-06-12

Similar Documents

Publication Publication Date Title
Waltes et al. The neurobiological basis of human aggression: a review on genetic and epigenetic mechanisms
Taylor Pharmacogenetics of the human beta-adrenergic receptors
Liu et al. A functional polymorphism of PON1 interferes with microRNA binding to increase the risk of ischemic stroke and carotid atherosclerosis
Bruhn-Olszewska et al. Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development
Hindorff et al. The association of PAI-1 promoter 4G/5G insertion/deletion polymorphism with myocardial infarction and stroke in young women
Liu et al. Brain derived neurotrophic factor in newly diagnosed diabetes and prediabetes
Jackson et al. Mechanisms responsible for genetic hypertension in schlager BPH/2 mice
Falcone et al. Relationship between the-374T/A RAGE gene polymorphism and angiographic coronary artery disease
DE112017008268T5 (de) DDX24-Mutationen und deren Verwendung
Zhang et al. Neuropeptide Y (NPY) genetic variation in the human promoter alters glucocorticoid signaling, yielding increased NPY secretion and stress responses
Guo et al. GCH1 plays a role in the high-altitude adaptation of Tibetans
Busby et al. α-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer’s disease
Chen et al. Correlation of rs1122608 SNP with acute myocardial infarction susceptibility and clinical characteristics in a Chinese Han population: A case-control study.
Riha et al. Genetic aspects of hypertension and metabolic disease in the obstructive sleep apnoea–hypopnoea syndrome
EP2016196A2 (fr) Polymorphisme de apq5
Wang et al. Neuropeptide Y1Receptor NPY1R: Discovery of Naturally Occurring Human Genetic Variants Governing Gene Expression In Cella as Well as Pleiotropic Effects on Autonomic Activity and Blood Pressure In Vivo
Ramu et al. Candidate gene polymorphisms of renin angiotensin system and essential hypertension in a South Indian Tamilian population
Cui et al. Thrombospondin-4 1186G> C (A387P) is a sex-dependent risk factor for myocardial infarction: a large replication study with increased sample size from the same population
Nkeh et al. Association between an atrial natriuretic peptide gene polymorphism and normal blood pressure in subjects of African ancestry: cardiovascular topics
Fukuda et al. Association of a mast cell chymase gene variant with HDL cholesterol, but not with blood pressure in the Ohasama study
CN103667301A (zh) 冠心病相关基因及其体外检测的试剂、制剂或试剂盒、应用
WO2002074987A2 (fr) Analyse diagnostique quantitative de l'hypertonie
Hassan et al. The association of TCF7L2 Gene (rs12255372) single nucleotide polymorphism with type two diabetes mellitus in Al Najaf Governorate
Shen et al. Asp905Tyr polymorphism of the gene for the skeletal muscle-specific glycogen-targeting subunit of protein phosphatase 1 in NIDDM
Qu et al. Polymorphisms of Transferrin gene are associated with schizophrenia in Chinese Han population

Legal Events

Date Code Title Description
PUAI Public reference made under article 153(3) epc to a published international application that has entered the european phase

Free format text: ORIGINAL CODE: 0009012

17P Request for examination filed

Effective date: 20081201

AK Designated contracting states

Kind code of ref document: A2

Designated state(s): AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HU IE IS IT LI LT LU LV MC MT NL PL PT RO SE SI SK TR

AX Request for extension of the european patent

Extension state: AL BA HR MK RS

17Q First examination report despatched

Effective date: 20090415

DAX Request for extension of the european patent (deleted)
STAA Information on the status of an ep patent application or granted ep patent

Free format text: STATUS: THE APPLICATION HAS BEEN WITHDRAWN

18W Application withdrawn

Effective date: 20110418