Title:
ESTROGEN RECEPTOR GENE POLYMORPHISMS AS MARKERS FOR DETERMINING A PREDISPOSITION FOR LOW BONE DENSITY
Document Type and Number:
WIPO Patent Application WO2002006522
Kind Code:
A3
Abstract:
The invention relates to a method of determining genetic predisposition to low or high bone mineral density of a patient, wherein low beone density is indicative of a predisposition to esteoporosis, esteopenia or bone fracture and high bone density is indicative of resistance to osteoporosis, osteopenia or bone fracture. The invention further relates to a marker at the estrogen receptor or equivalents thereof to prognose a response to esteoporosis therapy. As well, the invention relates to a method for determining osteoporosis susceptibility, prognosis and response to therapy based on a determination of the combination of the genotype at the estrogen receptor or at markers in linkage disequilibrium therewith, alone or together with other parameters such as age, or a therapeutic regimen. The invention further relates to screening assays to identify and select agents which can be used in the treatment of osteoporosis.
Inventors:
ROUSSEAU FRANCOIS (CA)
Application Number:
PCT/CA2001/000898
Publication Date:
March 06, 2003
Filing Date:
June 15, 2001
Export Citation:
Assignee:
SIGNALGENE INC (CA)
ROUSSEAU FRANCOIS (CA)
ROUSSEAU FRANCOIS (CA)
International Classes:
C12Q1/68; G01N33/50; (IPC1-7): C12Q1/68; G01N33/50
Domestic Patent References:
| WO1997027321A1 | 1997-07-31 | |||
| WO1996022387A1 | 1996-07-25 | |||
| WO2000015836A2 | 2000-03-23 |
Other References:
GIGUERE YVES ET AL: "The association between heel ultrasound and hormone replacement therapy is modulated by a two-locus vitamin D and estrogen receptor genotype.", JOURNAL OF BONE AND MINERAL RESEARCH, vol. 15, no. 6, June 2000 (2000-06-01), pages 1076 - 1084, XP001106669, ISSN: 0884-0431
KOBAYASHI S ET AL: "ASSOCIATION OF BONE MINERAL DENSITY WITH POLYMORPHISM OF THE ESTROGEN RECEPTOR GENE", JOURNAL OF BONE AND MINERAL RESEARCH, NEW YORK, NY, US, vol. 11, no. 3, 1 March 1996 (1996-03-01), pages 306 - 311, XP000671392, ISSN: 0884-0431
ALBAGHA O ET AL: "ESTROGEN RECEPTOR -ALPHA AND -BETA GENE POLYMORPHISMS AND OSTEOPOROSIS: A POPULATION BASED STUDY", CALCIFIED TISSUE INTERNATIONAL, NEW YORK, NY, US, vol. 64, no. SUPPL 1, 1999, pages S86, XP001023177, ISSN: 0171-967X
WILLING M ET AL: "BONE MINERAL DENSITY AND ITS CHANGE IN WHITE WOMEN: ESTROGEN AND VITAMIN D RECEPTOR GENOTYPES AND THEIR INTERACTION", JOURNAL OF BONE AND MINERAL RESEARCH, NEW YORK, NY, US, vol. 13, no. 4, 1998, pages 695 - 705, XP000915461, ISSN: 0884-0431
BLANCHET C ET AL: "Association between bone mineral density, physical activity, vitamin D and estrogen receptors polymorphisms in postmenopausal women.", MEDICINE AND SCIENCE IN SPORTS AND EXERCISE, vol. 30, no. 5 SUPPL., May 1998 (1998-05-01), 45th Annual Meeting of the American College of Sports Medicine;Orlando, Florida, USA; June 3-6, 1998, pages S228, XP001106246, ISSN: 0195-9131
GENNARI LUIGI ET AL: "Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: Evidence of multiple gene contribution to bone mineral density.", JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol. 83, no. 3, March 1998 (1998-03-01), pages 939 - 944, XP002216180, ISSN: 0021-972X
GIGUERE Y ET AL: "Common polymorphisms in vitamin D receptor and estrogen receptor in the prediction of bone mineral density and stiffness index in a cohort of postmenopausal women.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, no. 4 SUPPL., October 1997 (1997-10-01), 47th Annual Meeting of the American Society of Human Genetics;Baltimore, Maryland, USA; October 28-November 1, 1997, pages A199, XP001106248, ISSN: 0002-9297
SAMBROOK P N: "Corticosteroid osteoporosis.", ZEITSCHRIFT FUER RHEUMATOLOGIE, vol. 59, no. 1 Suppl. 1, 2000, pages 45 - 47, XP002216181, ISSN: 0340-1855
DATABASE BIOSIS [online] BIOSCIENCES INFORMATION SERVICE, PHILADELPHIA, PA, US; 2000, JULKUNEN HEIKKI: "Hormone replacement therapy in women with rheumatic diseases.", XP002216183, Database accession no. PREV200000351945
YAICH L ET AL: "ANALYSIS OF THE PVUII RESTRICTION FRAGMENT-LENGTH POLYMORPHISM AND EXON STRUCTURE OF THE ESTROGEN RECEPTOR GENE IN BREAST CANCER AND PERIPHERAL BLOOD", CANCER RESEARCH, AMERICAN ASSOCIATION FOR CANCER RESEARCH, BALTIMORE, MD, US, vol. 52, 1992, pages 77 - 83, XP002030083, ISSN: 0008-5472
SANO M ET AL: "ASSOCIATION OF ESTROGEN RECEPTOR DINUCLEOTIDE REPEAT POLYMORPHISM WITH OSTEOPOROSIS", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ACADEMIC PRESS INC. ORLANDO, FL, US, vol. 217, no. 1, 5 December 1995 (1995-12-05), pages 378 - 383, XP002030082, ISSN: 0006-291X
KOBAYASHI S ET AL: "ASSOCIATION OF BONE MINERAL DENSITY WITH POLYMORPHISM OF THE ESTROGEN RECEPTOR GENE", JOURNAL OF BONE AND MINERAL RESEARCH, NEW YORK, NY, US, vol. 11, no. 3, 1 March 1996 (1996-03-01), pages 306 - 311, XP000671392, ISSN: 0884-0431
ALBAGHA O ET AL: "ESTROGEN RECEPTOR -ALPHA AND -BETA GENE POLYMORPHISMS AND OSTEOPOROSIS: A POPULATION BASED STUDY", CALCIFIED TISSUE INTERNATIONAL, NEW YORK, NY, US, vol. 64, no. SUPPL 1, 1999, pages S86, XP001023177, ISSN: 0171-967X
WILLING M ET AL: "BONE MINERAL DENSITY AND ITS CHANGE IN WHITE WOMEN: ESTROGEN AND VITAMIN D RECEPTOR GENOTYPES AND THEIR INTERACTION", JOURNAL OF BONE AND MINERAL RESEARCH, NEW YORK, NY, US, vol. 13, no. 4, 1998, pages 695 - 705, XP000915461, ISSN: 0884-0431
BLANCHET C ET AL: "Association between bone mineral density, physical activity, vitamin D and estrogen receptors polymorphisms in postmenopausal women.", MEDICINE AND SCIENCE IN SPORTS AND EXERCISE, vol. 30, no. 5 SUPPL., May 1998 (1998-05-01), 45th Annual Meeting of the American College of Sports Medicine;Orlando, Florida, USA; June 3-6, 1998, pages S228, XP001106246, ISSN: 0195-9131
GENNARI LUIGI ET AL: "Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: Evidence of multiple gene contribution to bone mineral density.", JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol. 83, no. 3, March 1998 (1998-03-01), pages 939 - 944, XP002216180, ISSN: 0021-972X
GIGUERE Y ET AL: "Common polymorphisms in vitamin D receptor and estrogen receptor in the prediction of bone mineral density and stiffness index in a cohort of postmenopausal women.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, no. 4 SUPPL., October 1997 (1997-10-01), 47th Annual Meeting of the American Society of Human Genetics;Baltimore, Maryland, USA; October 28-November 1, 1997, pages A199, XP001106248, ISSN: 0002-9297
SAMBROOK P N: "Corticosteroid osteoporosis.", ZEITSCHRIFT FUER RHEUMATOLOGIE, vol. 59, no. 1 Suppl. 1, 2000, pages 45 - 47, XP002216181, ISSN: 0340-1855
DATABASE BIOSIS [online] BIOSCIENCES INFORMATION SERVICE, PHILADELPHIA, PA, US; 2000, JULKUNEN HEIKKI: "Hormone replacement therapy in women with rheumatic diseases.", XP002216183, Database accession no. PREV200000351945
YAICH L ET AL: "ANALYSIS OF THE PVUII RESTRICTION FRAGMENT-LENGTH POLYMORPHISM AND EXON STRUCTURE OF THE ESTROGEN RECEPTOR GENE IN BREAST CANCER AND PERIPHERAL BLOOD", CANCER RESEARCH, AMERICAN ASSOCIATION FOR CANCER RESEARCH, BALTIMORE, MD, US, vol. 52, 1992, pages 77 - 83, XP002030083, ISSN: 0008-5472
SANO M ET AL: "ASSOCIATION OF ESTROGEN RECEPTOR DINUCLEOTIDE REPEAT POLYMORPHISM WITH OSTEOPOROSIS", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ACADEMIC PRESS INC. ORLANDO, FL, US, vol. 217, no. 1, 5 December 1995 (1995-12-05), pages 378 - 383, XP002030082, ISSN: 0006-291X
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