WO2006134154A3 - Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications - Google Patents

Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications Download PDF

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Publication number
WO2006134154A3
WO2006134154A3 PCT/EP2006/063256 EP2006063256W WO2006134154A3 WO 2006134154 A3 WO2006134154 A3 WO 2006134154A3 EP 2006063256 W EP2006063256 W EP 2006063256W WO 2006134154 A3 WO2006134154 A3 WO 2006134154A3
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WIPO (PCT)
Prior art keywords
obesity
enpp1
risk
determining
diabetes
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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.)
Ceased
Application number
PCT/EP2006/063256
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French (fr)
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WO2006134154A2 (en
Inventor
Philippe Froguel
David Meyre
Christian Dina
Philippe Boutin
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.)
Centre National de la Recherche Scientifique CNRS
Universite Lille 2 Droit et Sante
Original Assignee
Centre National de la Recherche Scientifique CNRS
Universite Lille 2 Droit et Sante
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Application filed by Centre National de la Recherche Scientifique CNRS, Universite Lille 2 Droit et Sante filed Critical Centre National de la Recherche Scientifique CNRS
Priority to JP2008516328A priority Critical patent/JP5297799B2/en
Priority to US11/917,586 priority patent/US8017324B1/en
Priority to EP06763749A priority patent/EP1891237B9/en
Priority to CA002612160A priority patent/CA2612160A1/en
Priority to AT06763749T priority patent/ATE449192T1/en
Priority to DE602006010544T priority patent/DE602006010544D1/en
Publication of WO2006134154A2 publication Critical patent/WO2006134154A2/en
Publication of WO2006134154A3 publication Critical patent/WO2006134154A3/en
Anticipated expiration legal-status Critical
Priority to US13/197,327 priority patent/US20120009592A1/en
Ceased legal-status Critical Current

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    • 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
    • G01N33/573—Immunoassay; Biospecific binding assay; Materials therefor for enzymes or isoenzymes
    • 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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • 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
    • G01N33/68—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
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/035—Animal model for multifactorial diseases
    • A01K2267/0362—Animal model for lipid/glucose metabolism, e.g. obesity, type-2 diabetes
    • 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
    • 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
    • G01N2500/00—Screening for compounds of potential therapeutic value
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/04—Endocrine or metabolic disorders
    • G01N2800/042—Disorders of carbohydrate metabolism, e.g. diabetes, glucose metabolism
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/04—Endocrine or metabolic disorders
    • G01N2800/044—Hyperlipemia or hypolipemia, e.g. dyslipidaemia, obesity
    • 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

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Organic Chemistry (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biotechnology (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Pathology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • Cell Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Food Science & Technology (AREA)
  • Biophysics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

The present invention is directed to a method for determining if a subject is at increased risk to develop obesity or pathology related to obesity by determining the presence of a haplotype comprising three specific SNPs in a DNA or RNA sample of this subject and/or an elevated serum ENPP1 protein concentration. The present invention also relates to a kit and to an isolated nucleic sequence, vector or recombinant cell comprises said ENPP1 gene haplotype. The invention further comprises a method for selecting a compound for the treatment or the prevention of obesity or pathology related to obesity and a method for determining the efficacy of a drug to reduce the risk of obesity or pathology related to obesity in a patient.
PCT/EP2006/063256 2005-06-17 2006-06-15 Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications Ceased WO2006134154A2 (en)

Priority Applications (7)

Application Number Priority Date Filing Date Title
JP2008516328A JP5297799B2 (en) 2005-06-17 2006-06-15 ENPP1 (PC-1) gene haplotype associated with obesity and type 2 diabetes risk and its application
US11/917,586 US8017324B1 (en) 2005-06-17 2006-06-15 ENPP1 (PC-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications
EP06763749A EP1891237B9 (en) 2005-06-17 2006-06-15 Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications
CA002612160A CA2612160A1 (en) 2005-06-17 2006-06-15 Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications
AT06763749T ATE449192T1 (en) 2005-06-17 2006-06-15 HAPLOTYPE OF THE ENPP1 (PC1) GENE ASSOCIATED WITH THE RISK OF OBESITY AND TYPE 2 DIABETES AND APPLICATIONS THEREOF
DE602006010544T DE602006010544D1 (en) 2005-06-17 2006-06-15 ASSOCIATED WITH THE RISK OF OBESITY AND TYPE-2 DIABETES HAPLOTYP OF THE ENPP1 GENE (PC1) AND APPLICATIONS THEREOF
US13/197,327 US20120009592A1 (en) 2005-06-17 2011-08-03 Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP05291298.7 2005-06-17
EP05291298A EP1736553A1 (en) 2005-06-17 2005-06-17 ENPP1 (PC-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications

Related Child Applications (1)

Application Number Title Priority Date Filing Date
US13/197,327 Division US20120009592A1 (en) 2005-06-17 2011-08-03 Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications

Publications (2)

Publication Number Publication Date
WO2006134154A2 WO2006134154A2 (en) 2006-12-21
WO2006134154A3 true WO2006134154A3 (en) 2007-02-01

Family

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Family Applications (1)

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PCT/EP2006/063256 Ceased WO2006134154A2 (en) 2005-06-17 2006-06-15 Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications

Country Status (8)

Country Link
US (2) US8017324B1 (en)
EP (2) EP1736553A1 (en)
JP (1) JP5297799B2 (en)
AT (1) ATE449192T1 (en)
CA (1) CA2612160A1 (en)
DE (1) DE602006010544D1 (en)
ES (1) ES2337181T3 (en)
WO (1) WO2006134154A2 (en)

Families Citing this family (17)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2674793A1 (en) * 2007-01-19 2008-07-24 Integragen Human diabetes susceptibility btbd9 gene
WO2008087209A1 (en) * 2007-01-19 2008-07-24 Integragen Human diabetes susceptibility iglc gene
WO2008101971A1 (en) 2007-02-21 2008-08-28 Integragen Human diabetes susceptibility shank2 gene
WO2008101972A1 (en) * 2007-02-21 2008-08-28 Integragen Human diabetes susceptibility pebp4 gene
EP1978107A1 (en) * 2007-04-03 2008-10-08 Centre National De La Recherche Scientifique (Cnrs) Fto gene polymorphisms associated to obesity and/or type II diabetes
EP2145020A2 (en) * 2007-05-04 2010-01-20 Integragen Human diabetes susceptibility eefsec gene
JP5427352B2 (en) * 2007-11-16 2014-02-26 国立大学法人 東京大学 A method for determining the risk of developing obesity based on genetic polymorphisms associated with human body fat mass
US8877443B2 (en) 2009-05-15 2014-11-04 The University Of Tokyo Method and kit for evaluation of predisposition to development of obesity, anti-obesity agent and method for screening thereof, non-human animal, adipose tissue, adipocyte, method for production of transgenic mouse, antigen, and antibody
KR101486877B1 (en) * 2014-06-25 2015-02-05 대한민국 Method of providing the information of single nucleotide polymorphism associated with fasting plasma glucose
JP2020506948A (en) * 2017-02-07 2020-03-05 ザ リージェンツ オブ ザ ユニバーシティ オブ カリフォルニア Gene therapy for haploinsufficiency
EP3687565A1 (en) 2017-09-27 2020-08-05 Alexion Pharmaceuticals, Inc. Methods of improving cardiovascular function and treating cardiovascular disease using a recombinant ectonucleotide pyrophosphatase phosphodiesterase (npp1)
KR20210142599A (en) * 2019-01-18 2021-11-25 이노자임 파마, 인코포레이티드 Treatment of diseases involving ENPP1 or ENPP3 deficiency
CN110244058B (en) * 2019-06-10 2020-05-22 浙江大学 Application of ENPP1 in the preparation of diagnostic and prognostic kits for high-grade serous ovarian cancer
WO2022076848A1 (en) * 2020-10-08 2022-04-14 Inozyme Pharma, Inc. Liver specific production of enpp1 or enpp3
CN114093518B (en) * 2022-01-24 2022-04-26 北京健康有益科技有限公司 Diabetes risk assessment system and method based on obesity degree
CA3246877A1 (en) * 2022-03-30 2023-10-05 Yale University Method and compositions for treatment, amelioration, and/or prevention of diffuse idiopathic skeletal hyperostosis (dish)
WO2024216211A2 (en) * 2023-04-14 2024-10-17 The Board Of Trustees Of The Leland Stanford Junior University Methods of inhibiting tumor progression and metastasis by inhibition of enpp1

Citations (1)

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US6465185B1 (en) * 1998-11-18 2002-10-15 Instituto Di Ricovero E Cura A Carattere Scientifico Polymorphic human PC-1 sequences associated with insulin resistance

Patent Citations (1)

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Publication number Priority date Publication date Assignee Title
US6465185B1 (en) * 1998-11-18 2002-10-15 Instituto Di Ricovero E Cura A Carattere Scientifico Polymorphic human PC-1 sequences associated with insulin resistance

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
FRITTITTA LUCIA ET AL: "A cluster of three single nucleotide polymorphisms in the 3'-untranslated region of human glycoprotein PC-1 gene stabilizes PC-1 mRNA and is associated with increased PC-1 protein content and insulin resistance-related abnormalities", DIABETES, vol. 50, no. 8, August 2001 (2001-08-01), pages 1952 - 1955, XP002354159, ISSN: 0012-1797 *
FRITTITTA LUCIA ET AL: "The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance", JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, vol. 86, no. 12, December 2001 (2001-12-01), pages 5888 - 5891, XP002354157, ISSN: 0021-972X *
GODING J W ET AL: "Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family", BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE, AMSTERDAM, NL, vol. 1638, no. 1, 20 May 2003 (2003-05-20), pages 1 - 19, XP004426713, ISSN: 0925-4439 *
HAMAGUCHI KAZUYUKI ET AL: "The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes.", JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol. 89, no. 3, March 2004 (2004-03-01), pages 1359 - 1364, XP002354158, ISSN: 0021-972X *
MEYRE DAVID ET AL: "Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes", NATURE GENETICS, vol. 37, no. 8, August 2005 (2005-08-01), pages 863 - 867, XP002354160, ISSN: 1061-4036 *
STEFANOVIC VLADISAV ET AL: "Plasma cell membrane glycoprotein 1 (PC-1): a marker of insulin resistance in obesity, uremia and diabetes mellitus.", CLINICAL LABORATORY. 2004, vol. 50, no. 5-6, 2004, pages 271 - 278, XP009057018, ISSN: 1433-6510 *

Also Published As

Publication number Publication date
US20120009592A1 (en) 2012-01-12
EP1891237B9 (en) 2010-07-21
WO2006134154A2 (en) 2006-12-21
US8017324B1 (en) 2011-09-13
EP1736553A1 (en) 2006-12-27
JP5297799B2 (en) 2013-09-25
EP1891237B1 (en) 2009-11-18
EP1891237A2 (en) 2008-02-27
CA2612160A1 (en) 2006-12-21
DE602006010544D1 (en) 2009-12-31
JP2008546380A (en) 2008-12-25
ATE449192T1 (en) 2009-12-15
ES2337181T3 (en) 2010-04-21

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