Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis

Journal of Rheumatology

Volumn 27, Issue 3, 2000, Pages 779-784

  Loughlin, John ^a   Sinsheimer, Janet S ^b   Mustafa, Zehra ^b   Carr, Andrew J ^b   Clipsham, Kim ^b   Bloomfield, Victoria A ^b   Chitnavis, Jai ^b   Bailey, Allen ^b   Sykes, Bryan ^b   Chapman, Kay ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NONE

Author keywords

COL1A1; Estrogen receptor; Genetic association; Osteoarthritis; Vitamin D receptor

Indexed keywords

COLLAGEN TYPE 1; ESTROGEN RECEPTOR; VITAMIN D RECEPTOR;

ARTICLE; BONE DENSITY; FEMALE; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; OSTEOARTHRITIS; PRIORITY JOURNAL;

AGED; AGED, 80 AND OVER; ALLELES; CASE-CONTROL STUDIES; COHORT STUDIES; COLLAGEN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; OSTEOARTHRITIS; POLYMORPHISM, GENETIC; RECEPTORS, CALCITRIOL; RECEPTORS, ESTROGEN; SEX CHARACTERISTICS;

EID: 0034099328     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Creamer P, Hochberg MC. Osteoarthritis. Lancet 1997;350:503-8.
2. Jones A, Doherty M. ABC of rheumatology. Osteoarthritis. BMJ 1995;310:457-60.
3. Spector TD, Cicuttini F, Baker J. Loughlin J, Hart D. Genetic influences on osteoarthritis in women: a twin study. BMJ 1996;312:940-3.
4. Kaprio J, Kujala UM, Peltonen L, Koskenvuo M. Genetic liability to osteoarthritis may be greater in women than men [letter]. BMJ 1996;313:232.
5. Chitnavis J, Sinsheimer JS, Clipsham K, et al. Genetic influences in endstage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis. J Bone Joint Surg Br 1997;79B:660-4.
6. Felson DT, Couropmitree NN, Chaisson CE, et al. Evidence for a Mendelian gene in a segregation analysis of generalised radiographic osteoarthritis. Arthritis Rheum 1998;41:1064-71.
7. Hirsch R, Lethbridge-Cejku M, Hanson R, et al. Familial aggregation of osteoarthritis - data from the Baltimore Longitudinal Study on Aging. Arthritis Rheum 1998;41:1227-32.
8. Dequeker J, Mokassa L, Aerssens J, Boonen S. Bone density and local growth factors in generalized osteoarthritis. Microsc Res Tech 1997;37:358-71.
9. Mansell JP, Bailey AJ. Abnormal cancellous bone collagen metabolism in osteoarthritis. J Clin Invest 1998;101:1596-603.
10. Lane NE, Nevitt MC. Osteoarthritis and bone mass. J Rheumatol 1994;21:1393-5.
11. Sambrook P, Naganathan V. What is the relationship between osteoarthritis and osteoporosis? Bailliere's Clin Rheumatol 1997;11:695-710.
12. Morrison NA, Qi JC, Tokita A, et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994;367:284-7.
13. Grant SFA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α1 gene. Nat Genet 1996;14:203-5.
14. Roux C, Dougados M, Abel L, Mercier G, Lucotte G. Association of a polymorphism in the collagen I α1 gene with osteoporosis in French women. Arthritis Rheum 1998;41:187-8.
15. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H. Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 1996;11:306-11.
16. Eisman JA. Vitamin D receptor gene alleles and osteoporosis: an affirmative view. J Bone Miner Res 1995;10:1289-93.
17. Peacock M. Vitamin D receptor gene alleles and osteoporosis: a contrasting view. J Bone Miner Res 1995;10:1294-7.
18. Morrison NA, Qi JC, Tokita A, et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994;367:284-7.
19. Keen RW, Hart DJ, Lanchbury JS, Spector TD. Association of early osteoarthritis of the knee with a TaqI polymorphism of the vitamin D receptor gene. Arthritis Rheum 1997;40:1444-9.
20. Uitterlinden AG, Burger H, Huang Q, et al. Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee. J Clin Invest 1997;100:259-63.
21. Ushiyama T, Ueyama H, Inoue K, Nishioka J, Ohkubo I, Hukuda S. Estrogen receptor gene polymorphism and generalised osteoarthritis. J Rheumatol 1998;25:134-7.
22. Spector TD, Keen RW, Arden NK, et al. Influence of vitamin D receptor genotype on bone mineral density in postmenopausal women: a twin study in Britain. BMJ 1995;310:1357-60.
23. Bornstein P, McKay J, Morishima JK, Devarayalu S, Gelinas RE. Regulatory elements in the first intron contribute to transcriptional control of the human α1 (I) collagen gene. Proc Natl Acad Sci USA 1987;84:8869-73.
24. Kidd KK, Ott J. Power and sample-size in linkage studies. Cytogenet Cell Genet 1984;37:510-1.
25. Cohen J. Statistical power analysis for the behavioral sciences. 2nd ed. Hillsdale, NJ: Lawrence Erlbaum Associates; 1988.
26. Loughlin J, Irven C, Fergusson C, Sykes B. Sibling pair analysis shows no linkage of generalised osteoarthritis to the loci encoding type II collagen (COL2A1), cartilage link protein (CRTL1) or cartilage matrix protein (CRTM). Br J Rheumatol 1994;33:1103-6.
27. Aerssens J, Dequeker J, Peeters J, Breemans S, Boonen S. Lack of association between osteoarthritis of the hip and gene polymorphisms of VDR, COL1A1 and COL2A1 in postmenopausal women. Arthritis Rheum 1998;41:1946-50.