Adjacent genes, for COL2A1 and the vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee

Arthritis and Rheumatism

Volumn 43, Issue 7, 2000, Pages 1456-1464

  Uitterlinden, André G ^a,b   Burger, Huibert ^a   Van Duijn, Cornelia M ^b   Huang, Qiuju ^b   Hofman, Albert ^b   Birkenhäger, Jan C ^c   Van Leeuwen, Johannes P T M ^b   Pols, Huibert A P ^b  

^a UTRECHT UNIVERSITY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c Erasmus University Rotterdam ^*

Author keywords

[No Author keywords available]

Indexed keywords

VITAMIN D RECEPTOR;

ADULT; AGED; ARTICLE; COHORT ANALYSIS; DISEASE ASSOCIATION; FEMALE; GENOTYPE; HAPLOTYPE; HUMAN; KNEE OSTEOARTHRITIS; KNEE RADIOGRAPHY; MAJOR CLINICAL STUDY; MALE; OSTEOPHYTE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; TANDEM REPEAT;

AGED; COLLAGEN; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; KNEE JOINT; MALE; MIDDLE AGED; MINISATELLITE REPEATS; NETHERLANDS; ODDS RATIO; OSTEOARTHRITIS, KNEE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PREVALENCE; PROSPECTIVE STUDIES; RECEPTORS, CALCITRIOL;

EID: 0033939458     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/1529-0131(200007)43:7<1456::AID-ANR7>3.0.CO;2-M     Document Type: Article

References (38)

1. Kellgren JH, Lawrence JS, Bier F. Genetic factors in generalised osteoarthritis. Ann Rheum Dis 1963;22:237-55.
2. Spector TD, Cicuttini F, Baker JR, Loughlin JA, Hart DJ. Genetic influences on osteoarthritis in females: a study of twins. BMJ 1996;312:940-4.
3. Hirsch R, Lethbridge-Cejku M, Hanson R, Scott WW Jr. Reichle R, Plato CC, et al. Familial aggregation of osteoarthritis: data from the Baltimore Longitudinal Study on Aging. Arthritis Rheum 1998;41:1227-32.
4. Chitnavis J, Sinsheimer JS, Clipsham K, Loughlin J, Sykes B, Burge PD, et al. Genetic influences in end-stage osteoarthritis. J Bone Joint Surg Br 1997;79:660-4.
5. Holderbaum D, Haqqi TM, Moskowitz RW. Genetics and osteoarthritis: exposing the iceberg. Arthritis Rheum 1999;42:397-405.
6. Felson DT, Couropmitree NN, Chaisson CE, Hannan MT, Zhang Y, McAlindon TE, et al. Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: the Framingham Study. Arthritis Rheum 1998;41:1064-71.
7. Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, et al. Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med 1990;322:526-30.
8. Ritvaniemi P, Körkkö J, Bonaventure J, Vikkula M, Hyland J, Paassilta P, et al. Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. Arthritis Rheum 1995;38:999-1004.
9. Thomas JT, Ayad S, Grant ME. Cartilage collagens: strategies for the study of their organisation and expression in the extracellular matrix. Ann Rheum Dis 1994;53:488-96.
10. Berg ES, Olaisen B. Characterization of the COL2A1 VNTR polymorphism. Genomics 1993;16:350-4.
11. Vikkula M, Palotie A, Ritvaniemi P, Ott J, Ala-Kokko L, Sievers U. et al. Early-onset osteoarthritis linked to the type II procollagen gene: detailed clinical phenotype and further analyses of the gene. Arthritis Rheum 1993;36:401-9.
12. Priestly L, Fergusson C, Ogilvie D, Wordsworth P, Smith R, Pattrick M, et al. A limited association of generalized osteoarthritis with alleles at the type II collagen locus: COL2A1. Br J Rheumatol 1991;30:272-5.
13. Vikkula M, Nissila M, Hirvensalo E, Nuotio P, Palotie A, Aho K, et al. Multiallelic polymorphism of the cartilage collagen gene: no association with osteoarthrosis. Ann Rheum Dis 1993;52:762-4.
14. Loughlin J, Irven C, Fergusson C, Sykes B. Sibling pair analysis shows no linkage of generalized osteoarthritis to the loci encoding type II collagen, cartilage link protein or cartilage matrix protein. Br J Rheumatol 1994;33:1103-6.
15. Uitterlinden AG, Burger H, Huang Q, van Duijn CM, Hofman A, Birkenhäger JC, et al. Vitamin D receptor genotype is strongly associated with osteophytes in osteoarthritis but weakly with bone mineral density [abstract]. J Bone Miner Res 1996;11 Suppl 1:116.
16. Uitterlinden AG, Burger H, Huang Q, Odding E, van Duijn CM, Hofman A, et al. Vitamin D receptor genotype is associated with osteoarthritis. J Clin Invest 1997;100:259-63.
17. Keen RW, Hart DJ, Lanchbury JS, Spector TD. Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene. Arthritis Rheum 1997;40:1444-9.
18. Jones G, White C, Sambrook P, Eisman J. Allelic variation in the vitamin D receptor, lifestyle factors and lumbar spinal degenerative disease. Ann Rheum Dis 1998;57:94-9.
19. Videman T, Leppävuori J, Kaprio J, Battié MC, Gibbons LE, Peltonen L, et al. Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine 1998;23:2477-85.
20. 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.
21. McAlindon TE, Felson DT, Zhang Y, Hannan MT, Aliabadi P, Weissman B, et al. Relation of dietary intake and serum levels of vitamin D to progression of osteoarthritis of the knee among participants in the Framingham study. Ann Intern Med 1996;125:353-9.
22. Lane NE, Gore R, Cummings SR, Hochberg MC, Scott JC, Williams EN, et al. Serum vitamin D levels and incident changes of radiographic hip osteoarthritis: a longitudinal study. Arthritis Rheum 1999;42:854-60.
23. Labuda M, Fujiwara TM, Ross K, Morgan J, Garcia-Heras J, Ledbetter DH, et al. Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. J Bone Miner Res 1992;7:1447-53.
24. Pedeutour F, Merscher S, Durieux E, Montgomery K, Krauter K, Clevy J-P, et al. Mapping of the 12q12-q22 region with respect to tumor translocation breakpoints. Genomics 1994;22:512-8.
25. Hofman A, Grobbee DE, de Jong PTVM, van den Ouweland FA. Determinants of disease and disability in the elderly: the Rotterdam Elderly Study. Eur J Epidemiol 1991;7:403-22.
26. Uitterlinden AG, Huang Q, Pols HAP, van Leeuwen JPTM. Population analysis of the collagen type IIα1 3′ variable number of tandem repeat polymorphism by heteroduplex genotyping. Electrophoresis 1998;19:661-6.
27. Odding E. Locomotor disability in the elderly [thesis]. Rotterdam: Erasmus Univ.; 1994.
28. Burger H, van Daele PLA, Odding E, Valkenburg HA, Hofman A, Grobbee DE, et al. Association of radiographically evident osteoarthritis with higher bone mineral density and increased bone loss with age: the Rotterdam Study. Arthritis Rheum 1996;39:81-6.
29. Odding E, Valkenburg HA, Algra D, van den Ouweland FA, Grobbee DE, Hofman A. Association of radiological osteoarthritis of the hip and knee with locomotor disability in the Rotterdam Study. Ann Rheum Dis 1998;57:203-8.
30. Uitterlinden AG, Pols HAP, Burger H, Huang Q, van Daele PLA, van Duijn CM, et al. A large scale population-based study of the association of vitamin D receptor gene polymorphisms with bone mineral density. J Bone Miner Res 1996;11:1242-8.
31. Terwilliger JD, Ott J. Handbook of human genetic linkage. Baltimore: The Johns Hopkins University Press; 1994.
32. Van Saase J, van Romunde L, Cats A, van den Broucke JP, Valkenburg HA. Epidemiology of osteoarthritis: Zoetermeer survey, comparison of radiological osteoarthritis in a Dutch population with that in 10 other populations. Ann Rheum Dis 1989;48:271-80.
33. Felson DT, Zhang Y, Hannan MT, Naimark A, Weissman BN, Aliabadi P, et al. The incidence and natural history of knee osteoarthritis in the elderly: the Framingham Osteoarthritis Study. Arthritis Rheum 1995;38:1500-5.
34. Tsai CL, Liu TK. Osteoarthritis in women: its relationship to estrogen and current trends. Life Sci 1992;50:1737-44.
35. Kellgren JH, Jeffrey MR, Ball J, editors. Atlas of standard radiographs of arthritis. Vol. 2. The epidemiology of chronic rheumatism. Oxford: Blackwell Scientific Publications; 1963.
36. Hart DJ, Spector TD. Radiographic criteria for epidemiologic studies of osteoarthritis. J Rheumatol 1995;22 Suppl 43:46-8.
37. Meulenbelt I, Williams CJ, te Koppele JM, van de Giessen GC, Slagboom PE. Population haplotype analysis and evolutionary relations of the COL2A1 gene. Ann Hum Genet 1996;60:189-99.
38. Williams CJ, Harrison DA, Hopkinson I, Baldwin CT, Ahmad NN, Ala-Kokko L, et al. Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA. Hum Mutat 1992;1:403-16.