Type I collagen α1 Sp1 transcription factor binding site polymorphism is associated with reduced risk of hip osteoarthritis defined by severe joint space narrowing in elderly women

Arthritis and Rheumatism

Volumn 52, Issue 5, 2005, Pages 1431-1436

  Lian, K ^a   Zmuda, J M ^b   Nevitt, M C ^a   Lui, L ^a   Hochberg, M C ^c   Greene, D ^d   Li, J ^d   Wang, J ^d   Lane, N E ^a,e  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UNIVERSITY OF MARYLAND   (United States)

^d ROCHE MOLECULAR SYSTEMS   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SP1;

AGED; ALLELE; ARTICLE; BINDING SITE; BONE DENSITY; COL1A1 GENE; COMPARATIVE STUDY; CONFIDENCE INTERVAL; CONTROLLED STUDY; CROFT SUMMARY GRADE SCORE; FEMALE; FEMORAL OSTEOPHYTOSIS; FRAGILITY FRACTURE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HIP OSTEOARTHRITIS; HIP RADIOGRAPHY; HUMAN; INTRON; JOINT CAVITY; JOINT SPACE NARROWING; JOINT SPACE NARROWING SCORE; MAJOR CLINICAL STUDY; MULTIVARIATE LOGISTIC REGRESSION ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; OSTEOPHYTE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCORING SYSTEM; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE;

AGE FACTORS; AGED; COLLAGEN TYPE I; FEMALE; HUMANS; OSTEOARTHRITIS, HIP; POLYMORPHISM, GENETIC; RISK FACTORS; SEVERITY OF ILLNESS INDEX; SP1 TRANSCRIPTION FACTOR;

EID: 18644375563     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.21011     Document Type: Article

References (19)

1. Felson DT, Lawrence RC, Dieppe PA, Hirsch R, Helmick CG, Jordan JM, et al. Osteoarthritis: new insights. I. The disease and its risk factors [review]. Ann Intern Med 2000;133:635-46.
2. Spector TD, MacGregor AJ. Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage 2004;12 Suppl A:S39-44.
3. Loughlin J. Genetic epidemiology of primary osteoarthritis. Curr Opin Rheumatol 2001;13:111-6.
4. Kuivaniemi H, Tromp G, Prockop DJ. Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J 1991;5:2052-60.
5. Grant SF, 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 α 1 gene. Nat Genet 1996;14:203-5.
6. Uitterlinden AG, Burger H, Huang Q, Yue F, McGuigan FE, Grant SF, et al. Relation of alleles of the collagen type Iα1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 1998;338:1016-21.
7. Mann V, Hobson EE, Li B, Stewart TL, Grant SF, Robins SP, et al. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001;107:889-907.
8. McGuigan FA, Reid DM, Ralston SH. Susceptibility to osteoporotic fracture is determined by allelic variation at the Sp1 site, rather than other polymorphic sites at the COL1A1 locus. Osteoporos Int 2000;11:338-43.
9. Nevitt MC, Lane NE, Scott JC, Hochberg MC, Pressman AR, Genant AK, et al, and the Study of Osteoporotic Fractures Research Group. Radiographic osteoarthritis of the hip and bone mineral density. Arthritis Rheum 1995;38:907-16.
10. Hart DJ, Cronin C, Daniels M, Worthy T, Doyle DV, Spector TD. The relationship of bone density and fracture to incident and progressive radiographic osteoarthritis of the knee: the Chingford Study. Arthritis Rheum 2002;46:92-9.
11. Sowers M, Lachance L, Jamadar D, Hochberg MC, Hollis B, Crutchfield M, et al. The associations of bone mineral density and bone turnover markers with osteoarthritis of the hand and knee in pre- and perimenopausal women. Arthritis Rheum 1999;42:483-9.
12. Loughlin J, Sinsheimer JS, Mustafa Z, Carr AJ, Clipsham K, Bloomfield VA, et al. Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis. J Rheumatol 2000;27:779-84.
13. Radin EL, Paul IL, Rose RM. Role of mechanical factors in the pathogenesis of OA. Lancet 1972;1:519-22.
14. 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;11:1946-50.
15. Cummings SR, Nevitt MC, Browner WS, Stone K, Fox KM, Ensrud KE, et al, and the Study of Osteoporotic Fractures Research Group. Risk factors for hip fracture in white women. N Engl J Med 1995;332:767-73.
16. Lane NE, Nevitt MC, Hochberg MC, Hung YY, Palermo L. Progression of radiographic hip osteoarthritis over eight years in a community sample of elderly white women. Arthritis Rheum 2004;50:1477-86.
17. Morin PA, Saiz R, Monjazeb A. High-throughput single nucleotide polymorphism genotyping by fluorescent 5′ exonuclease assay. Biotechniques 1999;27:538-52.
18. Germer S, Holland MJ, Higuchi R. High throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR. Genome Res 2000;10:258-66.
19. Burr JB. The importance of subchondral bone in pression of OA. J Rheumatol 2004;31 Suppl 70:77-82.