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Volumn 25, Issue 2, 2013, Pages 192-197

Genetic epidemiology of osteoarthritis: Recent developments and future directions

Author keywords

endophenotypes; genes; osteoarthritis; sequencing; single nucleotide polymorphisms

Indexed keywords

FILAMIN A; HISTONE H3; SCLEROPROTEIN; TANEZUMAB;

EID: 84873408349     PISSN: 10408711     EISSN: 15316963     Source Type: Journal    
DOI: 10.1097/BOR.0b013e32835cfb8e     Document Type: Review
Times cited : (41)

References (43)
  • 1
    • 38149052992 scopus 로고    scopus 로고
    • Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part II
    • Lawrence RC, Felson DT, Helmick CG, et al. Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part II. Arthritis Rheum 2008; 58:26-35.
    • (2008) Arthritis Rheum , vol.58 , pp. 26-35
    • Lawrence, R.C.1    Felson, D.T.2    Helmick, C.G.3
  • 2
    • 38949130488 scopus 로고    scopus 로고
    • OARSI recommendations for the management of hip and knee osteoarthritis, Part II: OARSI evidence-based, expert consensus guidelines
    • Zhang W, Moskowitz RW, Nuki G, et al. OARSI recommendations for the management of hip and knee osteoarthritis, Part II: OARSI evidence-based, expert consensus guidelines. Osteoarthritis Cartilage 2008; 16: 137-162.
    • (2008) Osteoarthritis Cartilage , vol.16 , pp. 137-162
    • Zhang, W.1    Moskowitz, R.W.2    Nuki, G.3
  • 3
    • 84859773681 scopus 로고    scopus 로고
    • American College of Rheumatology 2012 recommendations forthe use of nonpharmacologic and pharmacologic therapies in osteoarthritis of the hand, hip, and knee
    • Hochberg MC, Altman RD, April KT, et al. American College Of Rheumatology 2012 recommendations forthe use of nonpharmacologic and pharmacologic therapies in osteoarthritis of the hand, hip, and knee. Arthritis Care Res (Hoboken) 2012; 64:465-474.
    • (2012) Arthritis Care Res (Hoboken) , vol.64 , pp. 465-474
    • Hochberg, M.C.1    Altman, R.D.2    April, K.T.3
  • 4
    • 78650977864 scopus 로고    scopus 로고
    • Genetic epidemiology of hip and knee osteoarthritis
    • Valdes AM, Spector TD. Genetic epidemiology of hip and knee osteoarthritis. Nat Rev Rheumatol 2011; 7:23-32.
    • (2011) Nat Rev Rheumatol , vol.7 , pp. 23-32
    • Valdes, A.M.1    Spector, T.D.2
  • 5
    • 84867891001 scopus 로고    scopus 로고
    • Osteoarthritis year 2012 in review: Genetics and genomics
    • Van Meurs JB, Uitterlinden AG. Osteoarthritis year 2012 in review: genetics and genomics. Osteoarthritis Cartilage 2012; 20: 1470-1476.
    • (2012) Osteoarthritis Cartilage , vol.20 , pp. 1470-1476
    • Van Meurs, J.B.1    Uitterlinden, A.G.2
  • 6
    • 0000473089 scopus 로고
    • Genetic factors in generalized osteo-arthrosis
    • Kellgren JH, Lawrence JS, Bier F. Genetic factors in generalized osteo-arthrosis. Ann Rheum Dis 1963; 22:237-255.
    • (1963) Ann Rheum Dis , vol.22 , pp. 237-255
    • Kellgren, J.H.1    Lawrence, J.S.2    Bier, F.3
  • 7
    • 0029925223 scopus 로고    scopus 로고
    • Genetic influences on osteoarthritis in women: A twin study
    • Spector TD, Cicuttini F, Baker J, et al. Genetic influences on osteoarthritis in women: a twin study. BMJ 1996; 312:940-943.
    • (1996) BMJ , vol.312 , pp. 940-943
    • Spector, T.D.1    Cicuttini, F.2    Baker, J.3
  • 8
    • 25144522176 scopus 로고    scopus 로고
    • The genetic epidemiology of human primary osteoarthritis: Current status
    • Loughlin J. The genetic epidemiology of human primary osteoarthritis: current status. Expert Rev Mol Med 2005; 7:1-12.
    • (2005) Expert Rev Mol Med , vol.7 , pp. 1-12
    • Loughlin, J.1
  • 9
    • 79953309875 scopus 로고    scopus 로고
    • Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study
    • Panoutsopoulou K, Southam L, Elliott KS, et al. Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Ann Rheum Dis 2011; 70:864-867.
    • (2011) Ann Rheum Dis , vol.70 , pp. 864-867
    • Panoutsopoulou, K.1    Southam, L.2    Elliott, K.S.3
  • 10
    • 78650988509 scopus 로고    scopus 로고
    • The GDF5 rs143383 polymorph-ism is associated with osteoarthritis of the knee with genome-wide statistical significance
    • Valdes AM, Evangelou E, Kerkhof HJ, et al. The GDF5 rs143383 polymorph-ism is associated with osteoarthritis of the knee with genome-wide statistical significance. Ann Rheum Dis 2011; 70:873-875.
    • (2011) Ann Rheum Dis , vol.70 , pp. 873-875
    • Valdes, A.M.1    Evangelou, E.2    Kerkhof, H.J.3
  • 11
    • 78751703383 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22
    • Evangelou E, Valdes AM, Kerkhof HJ, et al. Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis 2011; 70:349-355.
    • (2011) Ann Rheum Dis , vol.70 , pp. 349-355
    • Evangelou, E.1    Valdes, A.M.2    Kerkhof, H.J.3
  • 13
    • 34047103363 scopus 로고    scopus 로고
    • Afunctional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis
    • Miyamoto Y, Mabuchi A, Shi D, et al. Afunctional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet 2007; 39:529-533.
    • (2007) Nat Genet , vol.39 , pp. 529-533
    • Miyamoto, Y.1    Mabuchi, A.2    Shi, D.3
  • 14
    • 43049122786 scopus 로고    scopus 로고
    • A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility
    • Chapman K, Takahashi A, Meulenbelt I, et al. A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility. Hum Mol Genet 2008; 17:1497-1504.
    • (2008) Hum Mol Genet , vol.17 , pp. 1497-1504
    • Chapman, K.1    Takahashi, A.2    Meulenbelt, I.3
  • 15
    • 66449089103 scopus 로고    scopus 로고
    • Large-scale analysisofassocia-tion between GDF5 and FRZBvariantsand osteoarthritisof the hip, knee, and hand
    • Evangelou E, Chapman K, Meulenbelt I, et al. Large-scale analysisofassocia-tion between GDF5 and FRZBvariantsand osteoarthritisof the hip, knee, and hand. Arthritis Rheum 2009; 60:1710-1721.
    • (2009) Arthritis Rheum , vol.60 , pp. 1710-1721
    • Evangelou, E.1    Chapman, K.2    Meulenbelt, I.3
  • 16
    • 75749110202 scopus 로고    scopus 로고
    • A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22
    • Kerkhof HJ, Lories RJ, Meulenbelt I, et al. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis Rheum 2010; 62:499-510.
    • (2010) Arthritis Rheum , vol.62 , pp. 499-510
    • Kerkhof, H.J.1    Lories, R.J.2    Meulenbelt, I.3
  • 17
    • 84858599189 scopus 로고    scopus 로고
    • Functional effectsofsusceptibilitygenes in osteoarthritis
    • Cornelis FM, Luyten FP, Lories RJ. Functional effectsofsusceptibilitygenes in osteoarthritis. Discov Med 2011; 12:129-139.
    • (2011) Discov Med , vol.12 , pp. 129-139
    • Cornelis, F.M.1    Luyten, F.P.2    Lories, R.J.3
  • 18
    • 80051693596 scopus 로고    scopus 로고
    • Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation
    • Reynard LN, Bui C, Canty-Laird EG, et al. Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation. Hum Mol Genet 2011; 20:3450-3460.
    • (2011) Hum Mol Genet , vol.20 , pp. 3450-3460
    • Reynard, L.N.1    Bui, C.2    Canty-Laird, E.G.3
  • 19
    • 79952818200 scopus 로고    scopus 로고
    • Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus
    • Dodd AW, Rodriguez-Fontenla C, Calaza M, et al. Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus. Osteoarthritis Cartilage 2011; 19: 430-434.
    • (2011) Osteoarthritis Cartilage , vol.19 , pp. 430-434
    • Dodd, A.W.1    Rodriguez-Fontenla, C.2    Calaza, M.3
  • 20
    • 84876688803 scopus 로고    scopus 로고
    • A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipu-lated to modulate GDF5 expression
    • doi: 10. 1038/ejhg. 2012. 197. [Epub ahead of print]
    • Dodd AW, Syddall CM, Loughlin J. A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipu-lated to modulate GDF5 expression. Eur J Hum Genet 2012. doi: 10. 1038/ejhg. 2012. 197. [Epub ahead of print].
    • (2012) Eur J Hum Genet
    • Dodd, A.W.1    Syddall, C.M.2    Loughlin, J.3
  • 21
    • 84868466570 scopus 로고    scopus 로고
    • Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22
    • Raine EV, Wreglesworth N, Dodd AW, et al. Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22. Ann Rheum Dis 2012; 71:2020-2027.
    • (2012) Ann Rheum Dis , vol.71 , pp. 2020-2027
    • Raine, E.V.1    Wreglesworth, N.2    Dodd, A.W.3
  • 22
    • 84861978198 scopus 로고    scopus 로고
    • Genetic factors in OA pathogenesis
    • Chapman K, Valdes AM. Genetic factors in OA pathogenesis. Bone 2012; 51:258-264.
    • (2012) Bone , vol.51 , pp. 258-264
    • Chapman, K.1    Valdes, A.M.2
  • 23
    • 77951590246 scopus 로고    scopus 로고
    • Radiographic severity of knee osteoar-thritis is conditional on interleukin 1 receptor antagonist gene variations
    • Attur M, Wang HY, Kraus VB, et al. Radiographic severity of knee osteoar-thritis is conditional on interleukin 1 receptor antagonist gene variations. Ann Rheum Dis 2010; 69:856-861.
    • (2010) Ann Rheum Dis , vol.69 , pp. 856-861
    • Attur, M.1    Wang, H.Y.2    Kraus, V.B.3
  • 24
    • 79951858462 scopus 로고    scopus 로고
    • Large-scale meta-analysis of inter-leukin-1 betaand interleukin-1 receptor antagonistpolymorphisms on riskof radiographic hip and knee osteoarthritis and severity of knee osteoarthritis
    • Kerkhof HJ, Doherty M, Arden NK, et al. Large-scale meta-analysis of inter-leukin-1 betaand interleukin-1 receptor antagonistpolymorphisms on riskof radiographic hip and knee osteoarthritis and severity of knee osteoarthritis. Osteoarthritis Cartilage 2011; 19:265-271.
    • (2011) Osteoarthritis Cartilage , vol.19 , pp. 265-271
    • Kerkhof, H.J.1    Doherty, M.2    Arden, N.K.3
  • 25
    • 79960943621 scopus 로고    scopus 로고
    • Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability
    • Sanna S, Li B, Mulas A, et al. Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet 2011; 7:e1002198.
    • (2011) PLoS Genet , vol.7
    • Sanna, S.1    Li, B.2    Mulas, A.3
  • 26
    • 34548409926 scopus 로고    scopus 로고
    • 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
    • Southam L, Rodriguez-Lopez J, Wilkins JM, et al. 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 2007; 16:2226-2232.
    • (2007) Hum Mol Genet , vol.16 , pp. 2226-2232
    • Southam, L.1    Rodriguez-Lopez, J.2    Wilkins, J.M.3
  • 27
    • 79251602475 scopus 로고    scopus 로고
    • Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoar-thritis
    • van de Laar IM, Oldenburg RA, Pals G, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoar-thritis. Nat Genet 2011; 43:121-126.
    • (2011) Nat Genet , vol.43 , pp. 121-126
    • Van De Laar, I.M.1    Oldenburg, R.A.2    Pals, G.3
  • 28
    • 80052584397 scopus 로고    scopus 로고
    • Exomesequencing identifiesSMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
    • Regalado ES, Guo DC, Villamizar C, et al. Exomesequencing identifiesSMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 2011; 109:680-686.
    • (2011) Circ Res , vol.109 , pp. 680-686
    • Regalado, E.S.1    Guo, D.C.2    Villamizar, C.3
  • 29
    • 84856009900 scopus 로고    scopus 로고
    • Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
    • van de Laar IM, van der Linde D, Oei EH, et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet 2012; 49:47-57.
    • (2012) J Med Genet , vol.49 , pp. 47-57
    • Van De Laar, I.M.1    Van Der Linde, D.2    Oei, E.H.3
  • 30
    • 80051571182 scopus 로고    scopus 로고
    • A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study
    • Mu SC, Lin YJ, Liu HC, et al. A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study. Ann Hum Genet 2011; 75:575-583.
    • (2011) Ann Hum Genet , vol.75 , pp. 575-583
    • Mu, S.C.1    Lin, Y.J.2    Liu, H.C.3
  • 31
    • 83455166675 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
    • Min BJ, Kim N, Chung T, et al. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. Am J Hum Genet 2011; 89:760-766.
    • (2011) Am J Hum Genet , vol.89 , pp. 760-766
    • Min, B.J.1    Kim, N.2    Chung, T.3
  • 32
    • 77951589703 scopus 로고    scopus 로고
    • Clinical assessment incorporating a personal genome
    • Ashley EA, Butte AJ, Wheeler MT, et al. Clinical assessment incorporating a personal genome. Lancet 2010; 375:1525-1535.
    • (2010) Lancet , vol.375 , pp. 1525-1535
    • Ashley, E.A.1    Butte, A.J.2    Wheeler, M.T.3
  • 33
    • 84861422537 scopus 로고    scopus 로고
    • Genome-wide associa-tion and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis
    • Castano Betancourt MC, Cailotto F, Kerkhof HJ, et al. Genome-wide associa-tion and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. Proc Natl Acad Sci USA 2012; 109:8218-8223.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 8218-8223
    • Castano Betancourt, M.C.1    Cailotto, F.2    Kerkhof, H.J.3
  • 34
    • 70349245048 scopus 로고    scopus 로고
    • The association of proximal femoral shape and incident radiographic hip OA in elderly women
    • Lynch JA, Parimi N, Chaganti RK, et al. The association of proximal femoral shape and incident radiographic hip OA in elderly women. Osteoarthritis Cartilage 2009; 17:1313-1318.
    • (2009) Osteoarthritis Cartilage , vol.17 , pp. 1313-1318
    • Lynch, J.A.1    Parimi, N.2    Chaganti, R.K.3
  • 35
    • 79955557839 scopus 로고    scopus 로고
    • Osteoarthritis suscept-ibility genes influence the association between hip morphology and osteoar-thritis
    • Waarsing JH, Kloppenburg M, Slagboom PE, et al. Osteoarthritis suscept-ibility genes influence the association between hip morphology and osteoar-thritis. Arthritis Rheum 2011; 63:1349-1354.
    • (2011) Arthritis Rheum , vol.63 , pp. 1349-1354
    • Waarsing, J.H.1    Kloppenburg, M.2    Slagboom, P.E.3
  • 36
    • 84860464634 scopus 로고    scopus 로고
    • Variantalleles of theWntantagonist FRZB are determinants of hip shape and modify the relationship between hip shape and osteoarthritis
    • Baker-Lepain JC, Lynch JA, Parimi N, et al. Variantalleles of the Wntantagonist FRZB are determinants of hip shape and modify the relationship between hip shape and osteoarthritis. Arthritis Rheum 2012; 64:1457-1465.
    • (2012) Arthritis Rheum , vol.64 , pp. 1457-1465
    • Baker-Lepain, J.C.1    Lynch, J.A.2    Parimi, N.3
  • 37
    • 84873743938 scopus 로고    scopus 로고
    • Genome-wide association study meta-analysis of chronic widespread pain: Evidence for involvement of the 5p15. 2 region
    • [Epub ahead of print]
    • Peters MJ, Broer L, Willemen HL, et al. Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15. 2 region. Ann Rheum Dis 2012. [Epub ahead of print]
    • (2012) Ann Rheum Dis
    • Peters, M.J.1    Broer, L.2    Willemen, H.L.3
  • 38
    • 33646432730 scopus 로고    scopus 로고
    • Mutation in theepsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
    • Bouhouche A, Benomar A, Bouslam N, et al. Mutation in theepsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. J Med Genet 2006; 43:441-443.
    • (2006) J Med Genet , vol.43 , pp. 441-443
    • Bouhouche, A.1    Benomar, A.2    Bouslam, N.3
  • 39
    • 84862777282 scopus 로고    scopus 로고
    • Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity
    • Sorge RE, Trang T, Dorfman R, et al. Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity. Nat Med 2012; 18:595-599.
    • (2012) Nat Med , vol.18 , pp. 595-599
    • Sorge, R.E.1    Trang, T.2    Dorfman, R.3
  • 40
    • 85027909528 scopus 로고    scopus 로고
    • Association ofatherosclerosiswith presenceand progression of osteoarthritis: The Rotterdam Study
    • [Epub ahead of print]
    • Hoeven TA, Kavousi M, Clockaerts S, et al. Association ofatherosclerosiswith presenceand progression of osteoarthritis: the Rotterdam Study. Ann Rheum Dis 2012. [Epub ahead of print]
    • (2012) Ann Rheum Dis
    • Hoeven, T.A.1    Kavousi, M.2    Clockaerts, S.3
  • 41
    • 84873411385 scopus 로고    scopus 로고
    • Evaluation ofthegeneticoverlap between osteoarthritis with body mass index and height using genome-wide association scan data
    • [Epub ahead of print]
    • Elliott KS, Chapman K, Day-Williams A, et al. Evaluation ofthegeneticoverlap between osteoarthritis with body mass index and height using genome-wide association scan data. Ann Rheum Dis 2012. [Epub ahead of print]
    • (2012) Ann Rheum Dis
    • Elliott, K.S.1    Chapman, K.2    Day-Williams, A.3
  • 42
    • 77954541261 scopus 로고    scopus 로고
    • Bone mineral density and prevalent osteoarthritis of the hip in older men for the Osteoporotic Fractures in Men (MrOS) Study Group
    • Chaganti RK, Parimi N, Lang T, et al. Bone mineral density and prevalent osteoarthritis of the hip in older men for the Osteoporotic Fractures in Men (MrOS) Study Group. Osteoporos Int 2010; 21:1307-1316.
    • (2010) Osteoporos Int , vol.21 , pp. 1307-1316
    • Chaganti, R.K.1    Parimi, N.2    Lang, T.3
  • 43
    • 77950338000 scopus 로고    scopus 로고
    • Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record
    • Ritchie MD, Denny JC, Crawford DC, et al. Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet 2010; 86:560-572.
    • (2010) Am J Hum Genet , vol.86 , pp. 560-572
    • Ritchie, M.D.1    Denny, J.C.2    Crawford, D.C.3


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