The Contribution of Genes to Osteoarthritis

Rheumatic Disease Clinics of North America - Tập 34 - Trang 581-603 - 2008
Ana M. Valdes1, Timothy D. Spector1
1Twin Research & Genetic Epidemiology Unit, St. Thomas' Hospital Campus, Kings College London School of Medicine, London SE1 7EH, UK

Tài liệu tham khảo

Dieppe, 1994, The localization of osteoarthritis, Br J Rheumatol, 33, 201, 10.1093/rheumatology/33.3.201 Lawrence, 2008, Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part II, Arthritis Rheum, 58, 26, 10.1002/art.23176 Stoddard Sharma, 2006, Epidemiology of osteoarthritis: an update, Curr Opin Rheumatol, 18, 147, 10.1097/01.bor.0000209426.84775.f8 Doherty, 2004, How important are genetic factors in osteoarthritis?, J Rheumatol Suppl, 70, 22 Stecher, 1941, Heberden's nodes: heredity in hypertrophic arthritis of the finger joints, Am J Med Sci, 210, 801, 10.1097/00000441-194106000-00004 Kellgren, 1963, Genetic factors in generalized osteoarthritis, Ann Rheum Dis, 22, 237, 10.1136/ard.22.4.237 Loughlin, 2005, Polymorphism in signal transduction is a major route through which osteoarthritis susceptibility is acting, Curr Opin Rheumatol, 17, 629, 10.1097/01.bor.0000176687.85198.49 Ikegawa, 2007, New gene associations in osteoarthritis: what do they provide, and where are we going?, Curr Opin Rheumatol, 19, 429, 10.1097/BOR.0b013e32825b079d Risch, 1990, Linkage strategies for genetically complex traits. Multilocus models, Am J Hum Genet, 46, 222 Guo, 2002, Sibling recurrence risk ratio as a measure of genetic effect: caveat emptor!, Am J Hum Genet, 70, 818, 10.1086/339369 Lanyon, 2000, Assessment of a genetic contribution to osteoarthritis of the hip: sibling study, BMJ, 321, 1179, 10.1136/bmj.321.7270.1179 Neame, 2004, Genetic risk of knee osteoarthritis: a sibling study, Ann Rheum Dis, 63, 1022, 10.1136/ard.2003.014498 Chitnavis, 1997, Genetic influences in end-stage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis, J Bone Joint Surg Br, 79, 660, 10.1302/0301-620X.79B4.7437 McDonnell, 2007, Genetic influences in the aetiology of anteromedial osteoarthritis of the knee, J Bone Joint Surg Br, 89, 901, 10.1302/0301-620X.89B7.18915 Kellgren, 1952, Generalised osteoarthritis and Heberden's nodes, BMJ, 1, 181, 10.1136/bmj.1.4751.181 Riyazi, 2005, Evidence for familial aggregation of hand, hip, and spine but not knee osteoarthritis in siblings with multiple joint involvement: the GARP study, Ann Rheum Dis, 64, 438, 10.1136/ard.2004.024661 Botha-Scheepers, 2007, Influence of familial factors on radiologic disease progression over two years in siblings with osteoarthritis at multiple sites: a prospective longitudinal cohort study, Arthritis Rheum, 57, 626, 10.1002/art.22680 Khoury, 1988, Can familial aggregation of disease be explained by familial aggregation of environmental risk factors?, Am J Epidemiol, 127, 674, 10.1093/oxfordjournals.aje.a114842 Boomsma, 2002, Classical twin studies and beyond, Nat Rev Genet, 3, 872, 10.1038/nrg932 MacGregor, 2000, The genetic contribution to radiographic hip osteoarthritis in women: results of a classic twin study, Arthritis Rheum, 43, 2410, 10.1002/1529-0131(200011)43:11<2410::AID-ANR6>3.0.CO;2-E Maroudas, 1973, Chemical composition and swelling of normal and osteoarthritic femoral head cartilage, Ann Rheum Dis, 32, 1, 10.1136/ard.32.1.1 Hunter, 2003, Genetic contribution to cartilage volume in women: a classical twin study, Rheumatology, 42, 1495, 10.1093/rheumatology/keg400 Jones, 2004, Genetic mechanisms of knee osteoarthritis: a population based case-control study, Ann Rheum Dis, 63, 1255, 10.1136/ard.2003.015875 Zhai, 2007, Genetic influence on the progression of radiographic knee osteoarthritis: a longitudinal twin study, Osteoarthritis Cartilage, 15, 222, 10.1016/j.joca.2006.09.004 Zhai, 2005, The genetic contribution to longitudinal changes in knee structure and muscle strength: a sibpair study, Arthritis Rheum, 52, 2830, 10.1002/art.21267 Valdes, 2004, Association study of candidate genes for the prevalence and progression of knee osteoarthritis, Arthritis Rheum, 50, 2497, 10.1002/art.20443 Englund, 2007, Effect of meniscal damage on the development of frequent knee pain, aching, or stiffness, Arthritis Rheum, 56, 4048, 10.1002/art.23071 Belo, 2007, Prognostic factors of progression of osteoarthritis of the knee: a systematic review of observational studies, Arthritis Rheum., 57, 13, 10.1002/art.22475 Hunter, 2003, The role of bone metabolism in osteoarthritis, Curr Rheumatol Rep, 5, 15, 10.1007/s11926-003-0078-5 Burr, 1998, The importance of subchondral bone in osteoarthrosis, Curr Opin Rheumatol, 10, 256, 10.1097/00002281-199805000-00017 Lajeunesse, 2002, Altered subchondral osteoblast cellular metabolism in osteoarthritis: cytokines, eicosanoids, and growth factors, J Musculoskelet Neuronal Interact, 2, 504 Kiel, 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study, BMC Med Genet, 8, S14, 10.1186/1471-2350-8-S1-S14 Giroux, 2007, LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women, Bone, 40, 1299, 10.1016/j.bone.2007.01.004 Arko, 2005, Association of the osteoprotegerin gene polymorphisms with bone mineral density in postmenopausal women, Maturitas, 51, 270, 10.1016/j.maturitas.2004.08.006 Cahue, 2004, Varus-valgus alignment in the progression of patellofemoral osteoarthritis, Arthritis Rheum, 50, 2184, 10.1002/art.20348 Brouwer, 2007, Association between valgus and varus alignment and the development and progression of radiographic osteoarthritis of the knee, Arthritis Rheum, 56, 1204, 10.1002/art.22515 Cicuttini, 2004, Longitudinal study of the relationship between knee angle and tibiofemoral cartilage volume in subjects with knee osteoarthritis, Rheumatology, 43, 321, 10.1093/rheumatology/keh017 Hunter, 2007, Knee alignment does not predict incident osteoarthritis: the Framingham Osteoarthritis Study, Arthritis Rheum, 56, 1212, 10.1002/art.22508 Sharma, 1999, Laxity in healthy and osteoarthritic knees, Arthritis Rheum, 42, 861, 10.1002/1529-0131(199905)42:5<861::AID-ANR4>3.0.CO;2-N Wagner, 2001, Genetic control of skeletal development, Curr Opin Genet Dev, 11, 527, 10.1016/S0959-437X(00)00228-8 Lane, 2000, Association of mild acetabular dysplasia with an increased risk of incident hip osteoarthritis in elderly white women: the Study of Osteoporotic Fractures, Arthritis Rheum, 43, 400, 10.1002/1529-0131(200002)43:2<400::AID-ANR21>3.0.CO;2-D Shepstone, 2001, Shape of the intercondylar notch of the human femur: a comparison of osteoarthritic and non-osteoarthritic bones from a skeletal sample, Ann Rheum Dis, 60, 968, 10.1136/ard.60.10.968 Gregory, 2007, Early identification of radiographic osteoarthritis of the hip using an active shape model to quantify changes in bone morphometric features: can hip shape tell us anything about the progression of osteoarthritis?, Arthritis Rheum, 56, 3634, 10.1002/art.22982 Benito, 2005, Synovial tissue inflammation in early and late osteoarthritis, Ann Rheum Dis, 64, 1263, 10.1136/ard.2004.025270 Farahat, 1993, Cytokine expression in synovial membranes of patients with rheumatoid arthritis and osteoarthritis, Ann Rheum Dis, 52, 870, 10.1136/ard.52.12.870 Goldring, 2004, The regulation of chondrocyte function by proinflammatory mediators: prostaglandins and nitric oxide, Clin Orthop Relat Res, 427, S37, 10.1097/01.blo.0000144484.69656.e4 Ayral, 2005, Synovitis: a potential predictive factor of structural progression of medial tibiofemoral knee osteoarthritis - results of a 1 year longitudinal arthroscopic study in 422 patients, Osteoarthritis Cartilage, 13, 361, 10.1016/j.joca.2005.01.005 Wörns, 2006, Genetic and environmental contributions to plasma C-reactive protein and interleukin-6 levels–a study in twins, Genes Immun, 7, 600, 10.1038/sj.gene.6364330 Chapman, 1999, Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage, Am J Hum Genet, 65, 167, 10.1086/302465 Loughlin, 1999, Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16, Am J Hum Genet, 65, 1795, 10.1086/302685 Livshits, 2007, Genomewide linkage scan of hand osteoarthritis in female twin pairs showing replication of quantitative trait loci on chromosomes 2 and 19, Ann Rheum Dis, 66, 623, 10.1136/ard.2006.060236 Leppävuori, 1999, Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q, Am J Hum Genet, 65, 1060, 10.1086/302569 Stefánsson, 2003, Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3, Am J Hum Genet, 72, 1448, 10.1086/375556 Ingvarsson, 2001, A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p, Arthritis Rheum, 44, 2548, 10.1002/1529-0131(200111)44:11<2548::AID-ART435>3.0.CO;2-S Demissie, 2002, Genome scan for quantity of hand osteoarthritis: The Framingham Study, Arthritis Rheum, 46, 946, 10.1002/art.10149 Hunter, 2004, A genome scan for joint-specific hand osteoarthritis susceptibility: The Framingham Study, Arthritis Rheum, 50, 2489, 10.1002/art.20445 Lee, 2006, Osteoarthritis susceptibility loci defined by genome scan meta-analysis, Rheumatol Int, 26, 996, 10.1007/s00296-006-0120-9 Valdes, 2006, Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women, Arthritis Rheum, 54, 533, 10.1002/art.21621 Huelsken, 2002, The Wnt signalling pathway, J Cell Sci, 115, 3977, 10.1242/jcs.00089 Enomoto-Iwamoto, 2002, The Wnt antagonist Frzb-1 regulates chondrocyte maturation and long bone development during limb skeletogenesis, Dev Biol, 251, 142, 10.1006/dbio.2002.0802 Lories, 2007, Articular cartilage and biomechanical properties of the long bones in Frzb-knockout mice, Arthritis Rheum, 56, 4095, 10.1002/art.23137 Loughlin, 2004, Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females, Proc Natl Acad Sci U S A, 101, 9757, 10.1073/pnas.0403456101 Valdes, 2007, Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee, Arthritis Rheum, 56, 137, 10.1002/art.22301 Lane, 2006, Frizzled-related protein variants are risk factors for hip osteoarthritis, Arthritis Rheum, 54, 1246, 10.1002/art.21673 Rodriguez-Lopez, 2007, Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis, Ann Rheum Dis, 66, 1052, 10.1136/ard.2006.065938 Min, 2005, Association of the frizzled-related protein gene with symptomatic osteoarthritis at multiple sites, Arthritis Rheum, 52, 1077, 10.1002/art.20993 Kerkhof, 2008, Radiographic osteoarthritis at three joint sites and FRZB, LRP5, and LRP6 polymorphisms in two population-based cohorts, Osteoarthr Cart, 10.1016/j.joca.2008.02.007 Li, 2006, BMP signaling and skeletogenesis, Ann N Y Acad Sci, 1068, 26, 10.1196/annals.1346.006 Rountree, 2004, BMP receptor signaling is required for postnatal maintenance of articular cartilage, PLoS Biol, 2, 1816, 10.1371/journal.pbio.0020355 Miyamoto, 2007, A functional polymorphism in the 5'-UTR of GDF5 is associated with susceptibility to osteoarthritis, Nat Genet, 39, 529, 10.1038/2005 Southam, 2007, An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage, Hum Mol Genet, 16, 2226, 10.1093/hmg/ddm174 Drazen, 2007, Publishing genomewide association studies, N Engl J Med, 357, 496, 10.1056/NEJMe078130 Hunter, 2007, Drinking from the fire hose–statistical issues in genomewide association studies, N Engl J Med, 357, 436, 10.1056/NEJMp078120 Mototani, 2005, A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese, Hum Mol Genet, 14, 1009, 10.1093/hmg/ddi093 Loughlin, 2006, The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population, Osteoarthritis Cartilage, 14, 295, 10.1016/j.joca.2005.11.001 Spector, 2006, Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling, Arthritis Rheum, 54, 524, 10.1002/art.21624 Jiang, 2008, Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility, J Hum Genet, 53, 42, 10.1007/s10038-007-0216-4 Valdes, 2008, Genome-wide association scan identifies a PTGS2 (prostaglandin-endoperoxide synthase 2) variant involved in risk of knee osteoarthritis, Am J Hum Genet, 82, 1231, 10.1016/j.ajhg.2008.04.006 Valdes, 2008, The additive effect of individual genes in predicting risk of knee osteoarthritis, Ann Rheum Dis, 67, 124, 10.1136/ard.2007.075838 Del Junco, 1984, The familial aggregation of rheumatoid arthritis and its relationship to the HLA-DR4 association, Am J Epidemiol., 119, 813, 10.1093/oxfordjournals.aje.a113802 Moroldo, 2004, Juvenile rheumatoid arthritis affected sibpairs: extent of clinical phenotype concordance, Arthritis Rheum, 50, 1928, 10.1002/art.20292 Peña, 2001, Genetic factors underlying gluten-sensitive enteropathy, Curr Allergy Asthma Rep, 1, 526, 10.1007/s11882-001-0061-z Chen, 2003, Sibling recurrence risk ratio analysis of the metabolic syndrome and its components over time, BMC Genet, 4, 1, 10.1186/1471-2156-4-S1-S33 Weijnen, 2002, Risk of diabetes in siblings of index cases with type 2 diabetes: implications for genetic studies, Diabet Med, 19, 41, 10.1046/j.1464-5491.2002.00624.x Spector, 1996, Genetic influences on osteoarthritis in women: a twin study, BMJ, 312, 940, 10.1136/bmj.312.7036.940 Doherty, 2000, Genetics of hand osteoarthritis, Osteoarthritis Cartilage, 8, S8, 10.1053/joca.2000.0327 Kizawa, 2005, An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis, Nat Genet, 37, 138, 10.1038/ng1496 Kaliakatsos, 2006, Asporin and knee osteoarthritis in patients of Greek origin, Osteoarthritis Cartilage, 14, 609, 10.1016/j.joca.2005.10.012 Mustafa, 2005, Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population, Arthritis Rheum, 52, 3502, 10.1002/art.21399 Rodriguez-Lopez, 2006, Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility: case-control studies in Spanish Caucasians, Arthritis Res Ther, 8, 1, 10.1186/ar1849 Southam, 2004, Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13, Arthritis Rheum, 50, 3910, 10.1002/art.20634 Seki, 2005, A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease, Nat Genet, 37, 607, 10.1038/ng1557 Ikeda, 2002, Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population, J Bone Miner Res, 17, 1290, 10.1359/jbmr.2002.17.7.1290 Valdes, 2005, Radiographic progression of lumbar spine disc degeneration is influenced by variation at inflammatory genes: a candidate SNP association study in the Chingford cohort, Spine, 30, 2445, 10.1097/01.brs.0000184369.79744.a5 Meulenbelt, 2008, Identification of DIO2 as new susceptibility locus for symptomatic osteoarthritis, Hum Mol Genet, 10.1093/hmg/ddn082 Fytili, 2005, Association of repeat polymorphisms in the estrogen receptors alpha, beta, and androgen receptor genes with knee osteoarthritis, Clin Genet, 68, 268, 10.1111/j.1399-0004.2005.00495.x Jin, 2004, Estrogen receptor-alpha gene haplotype is associated with primary knee osteoarthritis in Korean population, Arthritis Res Ther, 6, R415, 10.1186/ar1207 Rovetta, 2006, HLA-DRB1alleles and osteoarthritis in a group of patients living in Liguria-Italy, Minerva Med, 97, 271 Riyazi, 2003, HLA class II is associated with distal interphalangeal osteoarthritis, Ann Rheum Dis, 62, 227, 10.1136/ard.62.3.227 Moos, 2002, Association of HLA-DRB1*02 with osteoarthritis in a cohort of 106 patients, Rheumatology (Oxford), 41, 666, 10.1093/rheumatology/41.6.666 Wakitani, 2001, Japanese generalised osteoarthritis was associated with HLA class I–a study of HLA-A, B, Cw, DQ, DR in 72 patients, Clin Rheumatol, 20, 417, 10.1007/s100670170006 Smith, 2004, Extended haplotypes and linkage disequilibrium in the IL1R1-IL1A-IL1B-IL1RN gene cluster: association with knee osteoarthritis, Genes Immun, 5, 451, 10.1038/sj.gene.6364107 Loughlin, 2002, Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis, Arthritis Rheum, 46, 1519, 10.1002/art.10260 Meulenbelt, 2004, Association of the interleukin-1 gene cluster with radiographic signs of osteoarthritis of the hip, Arthritis Rheum, 50, 1179, 10.1002/art.20121 Forster, 2004, Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis, Hum Genet, 114, 391, 10.1007/s00439-004-1083-0 Pola, 2005, Interleukin-6 gene polymorphism and risk of osteoarthritis of the hip: a case-control study, Osteoarthritis Cartilage, 13, 1025, 10.1016/j.joca.2005.07.011 Nicklas, 2005, Physical function and its response to exercise: associations with cytokine gene variation in older adults with knee osteoarthritis, J Gerontol A Biol Sci Med Sci, 60, 1292, 10.1093/gerona/60.10.1292 Fytili, 2005, Interleukin-10G and interleukin-10R microsatellite polymorphisms and osteoarthritis of the knee, Clin Exp Rheumatol, 23, 621 Riyazi, 2005, The role of interleukin 10 promoter polymorphisms in the susceptibility of distal interphalangeal osteoarthritis, J Rheumatol, 32, 1571 Smith, 2005, Haplotypes of the low-density lipoprotein receptor-related protein 5 (LRP5) gene: are they a risk factor in osteoarthritis?, Osteoarthritis Cartilage, 13, 608, 10.1016/j.joca.2005.01.008 Min, 2006, Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand, Ann Rheum Dis, 65, 1060, 10.1136/ard.2005.045153 Mahr, 2006, Cis- and trans-acting gene regulation is associated with osteoarthritis, Am J Hum Genet, 78, 793, 10.1086/503849 Loughlin, 2007, Genetic association analysis of RHOB and TXNDC3 in osteoarthritis, Am J Hum Genet, 80, 383, 10.1086/511443 Uitterlinden, 2004, Genetics and biology of vitamin D receptor polymorphisms, Gene, 338, 143, 10.1016/j.gene.2004.05.014