메뉴 건너뛰기




Volumn 5, Issue 6, 2004, Pages 451-460

Extended haplotypes and linkage disequilibrium in the IL1R1-IL1A-IL1B-IL1RN gene cluster: Association with knee osteoarthritis

Author keywords

Interleukin 1; Linkage disequilibrium; Osteoarthritis; Polymorphism

Indexed keywords

INTERLEUKIN 1 RECEPTOR;

EID: 4644247122     PISSN: 14664879     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gene.6364107     Document Type: Article
Times cited : (118)

References (49)
  • 2
    • 0029979369 scopus 로고    scopus 로고
    • Biologic basis for interleukin-1 in disease
    • Dinarello CA. Biologic basis for interleukin-1 in disease. Blood 1996; 87: 2095-2147.
    • (1996) Blood , vol.87 , pp. 2095-2147
    • Dinarello, C.A.1
  • 3
    • 0031801957 scopus 로고    scopus 로고
    • Signal transduction pathways activated by the IL-1 receptor family: Ancient signaling machinery in mammals, insects, and plants
    • O'Neill LA, Greene C. Signal transduction pathways activated by the IL-1 receptor family: ancient signaling machinery in mammals, insects, and plants. J Leukocyte Biol 998; 63: 650-657.
    • (1998) J. Leukocyte Biol. , vol.63 , pp. 650-657
    • O'Neill, L.A.1    Greene, C.2
  • 4
    • 0001867003 scopus 로고
    • Epidemiology of the rheumatic diseases
    • 12th edn. McCarty and Koopman (Lea & Febiger): Malvern, PA
    • Felson D. Epidemiology of the rheumatic diseases. Arthritis and Allied Conditions 1993, 12th edn. McCarty and Koopman (Lea & Febiger): Malvern, PA.
    • (1993) Arthritis and Allied Conditions
    • Felson, D.1
  • 5
    • 0033252149 scopus 로고    scopus 로고
    • Osteoarthritis: A review
    • Simon LS. Osteoarthritis: a review. Clin Cornerstone 1999; 2: 26-37.
    • (1999) Clin. Cornerstone , vol.2 , pp. 26-37
    • Simon, L.S.1
  • 8
    • 0026600505 scopus 로고
    • Interleukin-1 alpha and beta production by cells isolated from membranes around aseptically loose total joint replacements
    • Westacott CI, Taylor G, Atkins R, Elson C. Interleukin-1 alpha and beta production by cells isolated from membranes around aseptically loose total joint replacements. Ann Rheum Dis 1992; 51: 638-642.
    • (1992) Ann. Rheum. Dis. , vol.51 , pp. 638-642
    • Westacott, C.I.1    Taylor, G.2    Atkins, R.3    Elson, C.4
  • 11
    • 0033763931 scopus 로고    scopus 로고
    • Association of genotypes affecting the expression of interleukin-1beta or interleukin-1 receptor antagonist with osteoarthritis
    • Moos V, Rudwaleit M, Herzog V, Hohlig K, Sieper J, Muller B. Association of genotypes affecting the expression of interleukin-1beta or interleukin-1 receptor antagonist with osteoarthritis. Arthrit Rheum 2000; 43: 2417-2422.
    • (2000) Arthrit. Rheum. , vol.43 , pp. 2417-2422
    • Moos, V.1    Rudwaleit, M.2    Herzog, V.3    Hohlig, K.4    Sieper, J.5    Muller, B.6
  • 12
    • 0026719870 scopus 로고
    • Susceptibility of normal and arthritic human articular cartilage to degradative stimuli
    • Ismaiel S, Atkins RM, Pearse MF, Dieppe PA, Elson CJ. Susceptibility of normal and arthritic human articular cartilage to degradative stimuli. Br J Rheumatol 1992; 31: 369-373.
    • (1992) Br. J. Rheumatol. , vol.31 , pp. 369-373
    • Ismaiel, S.1    Atkins, R.M.2    Pearse, M.F.3    Dieppe, P.A.4    Elson, C.J.5
  • 13
    • 0026725714 scopus 로고
    • The interleukin-1 receptor in normal and osteoarthritic human articular chondrocytes. Identification as the type I receptor and analysis of binding kinetics and function
    • Martel-Pelletier J, McCollum R, DiBattista J et al. The interleukin-1 receptor in normal and osteoarthritic human articular chondrocytes. Identification as the type I receptor and analysis of binding kinetics and function. Arthrit Rheum 1992; 35: 530-540.
    • (1992) Arthrit. Rheum. , vol.35 , pp. 530-540
    • Martel-Pelletier, J.1    McCollum, R.2    DiBattista, J.3
  • 16
    • 2142854406 scopus 로고    scopus 로고
    • Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: Evidence for a locus on 2q
    • Leppavuori J, Kujala U, Kinnunen J et al. Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q. Am J Hum Genet 1999; 65: 1060-1067.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1060-1067
    • Leppavuori, J.1    Kujala, U.2    Kinnunen, J.3
  • 17
    • 6744229752 scopus 로고    scopus 로고
    • Linkage analysis of chromosome 2q in osteoarthritis
    • Loughlin J, Mustafa Z, Smith A et al. Linkage analysis of chromosome 2q in osteoarthritis. Rheumatology 2000; 39: 377-381.
    • (2000) Rheumatology , vol.39 , pp. 377-381
    • Loughlin, J.1    Mustafa, Z.2    Smith, A.3
  • 18
    • 0027287950 scopus 로고
    • Interleukin 1 signaling occurs exclusively via the type I receptor
    • Sims JE, Gayle MA, Slack JL et al. Interleukin 1 signaling occurs exclusively via the type I receptor. Proc Natl Acad Sci USA 1993; 90: 6155-6159.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 6155-6159
    • Sims, J.E.1    Gayle, M.A.2    Slack, J.L.3
  • 20
    • 0027181936 scopus 로고
    • Interleukin-1 type II receptor: A decoy target for IL-1 that is regulated by IL-4
    • Colotta F, Re F, Muzio M et al. Interleukin-1 type II receptor: a decoy target for IL-1 that is regulated by IL-4. Science 1993; 261: 472-475.
    • (1993) Science , vol.261 , pp. 472-475
    • Colotta, F.1    Re, F.2    Muzio, M.3
  • 23
    • 0033188361 scopus 로고    scopus 로고
    • Cytokine gene polymorphism in human disease: On-line databases
    • Bidwell J, Keen L, Gallagher G et al. Cytokine gene polymorphism in human disease: on-line databases. Genes Immun 1999; 1: 3-19.
    • (1999) Genes Immun. , vol.1 , pp. 3-19
    • Bidwell, J.1    Keen, L.2    Gallagher, G.3
  • 24
    • 0035319112 scopus 로고    scopus 로고
    • Cytokine gene polymorphism in human disease: On-line databases, supplement 1
    • Bidwell J, Keen L, Gallagher G et al. Cytokine gene polymorphism in human disease: on-line databases, supplement 1. Genes Immun 2001; 2: 61-70.
    • (2001) Genes Immun. , vol.2 , pp. 61-70
    • Bidwell, J.1    Keen, L.2    Gallagher, G.3
  • 25
    • 0012205654 scopus 로고    scopus 로고
    • Cytokine gene polymorphism in human disease: On-line databases, supplement 2
    • Haukim N, Bidwell JL, Smith AJP et al. Cytokine gene polymorphism in human disease: on-line databases, supplement 2. Genes Immun 2002; 3: 313-330.
    • (2002) Genes Immun. , vol.3 , pp. 313-330
    • Haukim, N.1    Bidwell, J.L.2    Smith, A.J.P.3
  • 26
    • 0030175868 scopus 로고    scopus 로고
    • Three distinct promoters direct transcription of different 5′ untranslated regions of the human interleukin 1 type 1 receptor: A possible mechanism for control of translation
    • Ye K, Vannier E, Clark BD, Sims JE, Dinarello CA. Three distinct promoters direct transcription of different 5′ untranslated regions of the human interleukin 1 type 1 receptor: a possible mechanism for control of translation. Cytokine 1996; 8: 421-429.
    • (1996) Cytokine , vol.8 , pp. 421-429
    • Ye, K.1    Vannier, E.2    Clark, B.D.3    Sims, J.E.4    Dinarello, C.A.5
  • 27
    • 0028826120 scopus 로고
    • Characterization of polymorphisms of an interleukin 1 receptor type 1 gene (IL1RI) promotor region (P2) and their relation to insulin-dependent diabetes mellitus (IDDM)
    • The Danish Study Group of Diabetes in Childhood
    • Bergholdt R, Karlsen AE, Johannesen J et al. Characterization of polymorphisms of an interleukin 1 receptor type 1 gene (IL1RI) promotor region (P2) and their relation to insulin-dependent diabetes mellitus (IDDM). The Danish Study Group of Diabetes in Childhood. Cytokine 1995; 7: 727-733.
    • (1995) Cytokine , vol.7 , pp. 727-733
    • Bergholdt, R.1    Karlsen, A.E.2    Johannesen, J.3
  • 28
    • 0034566139 scopus 로고    scopus 로고
    • Characterization of new polymorphisms in the 5′ UTR of the human interleukin-1 receptor type 1 (IL1R1) gene: Linkage to type 1 diabetes and correlation to IL-1RI plasma level
    • Bergholdt R, Larsen ZM, Andersen NA et al. Characterization of new polymorphisms in the 5′ UTR of the human interleukin-1 receptor type 1 (IL1R1) gene: linkage to type 1 diabetes and correlation to IL-1RI plasma level. Genes Immun 2000; 1: 495-500.
    • (2000) Genes Immun. , vol.1 , pp. 495-500
    • Bergholdt, R.1    Larsen, Z.M.2    Andersen, N.A.3
  • 29
    • 0033224548 scopus 로고    scopus 로고
    • Identification of novel single nucleotide polymorphisms in intron 1B and exon 1C of the human interleukin-1 receptor type I (IL-1RI) gene
    • Sitara D, Olomolaiye O, Wood N et al. Identification of novel single nucleotide polymorphisms in intron 1B and exon 1C of the human interleukin-1 receptor type I (IL-1RI) gene. Genes Immun 1999; 1: 161-163.
    • (1999) Genes Immun. , vol.1 , pp. 161-163
    • Sitara, D.1    Olomolaiye, O.2    Wood, N.3
  • 30
    • 0034051664 scopus 로고    scopus 로고
    • Characterization of a rare Sty I polymorphism in exon 1C of the human interleukin-1 receptor type I (IL-1RI) gene
    • Sitara D, Wood N, Keen L, Morse H, Bidwell J. Characterization of a rare Sty I polymorphism in exon 1C of the human interleukin-1 receptor type I (IL-1RI) gene. Eur J Immunogenet 2000; 27: 103-104.
    • (2000) Eur. J. Immunogenet. , vol.27 , pp. 103-104
    • Sitara, D.1    Wood, N.2    Keen, L.3    Morse, H.4    Bidwell, J.5
  • 31
    • 0034139445 scopus 로고    scopus 로고
    • A Bsr BI polymorphism in exon 1C of the human interleukin-1 receptor type I (IL-1RI) gene
    • Sitara D, Wood N, Morse H, Keen L, Bidwell J. A Bsr BI polymorphism in exon 1C of the human interleukin-1 receptor type I (IL-1RI) gene. Genes Immun 2000; 1: 234-235.
    • (2000) Genes Immun. , vol.1 , pp. 234-235
    • Sitara, D.1    Wood, N.2    Morse, H.3    Keen, L.4    Bidwell, J.5
  • 32
    • 0031961076 scopus 로고    scopus 로고
    • An analysis of linkage disequilibrium in the interleukin-1 gene cluster, using a novel grouping method for multiallelic markers
    • Cox A, Camp NJ, Nicklin MJ, di Giovine FS, Duff GW. An analysis of linkage disequilibrium in the interleukin-1 gene cluster, using a novel grouping method for multiallelic markers. Am J Hum Genet 1998; 62: 1180-1188.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1180-1188
    • Cox, A.1    Camp, N.J.2    Nicklin, M.J.3    di Giovine, F.S.4    Duff, G.W.5
  • 33
    • 0031927564 scopus 로고    scopus 로고
    • IL-1 receptor antagonist (IL-1Ra) plasma levels are co-ordinately regulated by both IL-1Ra and IL-1beta genes
    • Hurme M, Santtila S. IL-1 receptor antagonist (IL-1Ra) plasma levels are co-ordinately regulated by both IL-1Ra and IL-1beta genes. Eur J Immunol 1998; 28: 2598-2602.
    • (1998) Eur. J. Immunol. , vol.28 , pp. 2598-2602
    • Hurme, M.1    Santtila, S.2
  • 34
    • 0030068698 scopus 로고    scopus 로고
    • Genetic screening and testing by induced heteroduplex formation
    • Wood N, Bidwell J. Genetic screening and testing by induced heteroduplex formation. Electrophoresis 1996; 17: 247-254.
    • (1996) Electrophoresis , vol.17 , pp. 247-254
    • Wood, N.1    Bidwell, J.2
  • 35
    • 0025286621 scopus 로고
    • A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences
    • Zuliani G, Hobbs HH. A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences. Am J Hum Genet 1990; 46: 963-969.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 963-969
    • Zuliani, G.1    Hobbs, H.H.2
  • 36
    • 0032110943 scopus 로고    scopus 로고
    • Genetic variations in cytokine expression: A risk factor for severity of adult periodontitis
    • Kornman KS, di Giovine FS. Genetic variations in cytokine expression: a risk factor for severity of adult periodontitis. Ann Periodontol 1998; 3: 327-338.
    • (1998) Ann. Periodontol. , vol.3 , pp. 327-338
    • Kornman, K.S.1    di Giovine, F.S.2
  • 37
    • 0026652591 scopus 로고
    • A TaqI polymorphism in the human interleukin-1 beta (IL-1 beta) gene correlates with IL-1 beta secretion in vitro
    • Pociot F, Molvig J, Wogensen L, Worsaae H, Nerup J. A TaqI polymorphism in the human interleukin-1 beta (IL-1 beta) gene correlates with IL-1 beta secretion in vitro. Eur J Clin Invest 1992; 22: 396-402.
    • (1992) Eur. J. Clin. Invest. , vol.22 , pp. 396-402
    • Pociot, F.1    Molvig, J.2    Wogensen, L.3    Worsaae, H.4    Nerup, J.5
  • 38
    • 2442768798 scopus 로고    scopus 로고
    • Five novel intragenic dimorphisms in the human interleukin-1 genes combine to high informativity
    • Guasch JF, Bertina RM, Reitsma PH. Five novel intragenic dimorphisms in the human interleukin-1 genes combine to high informativity. Cytokine 1996; 8: 598-602.
    • (1996) Cytokine , vol.8 , pp. 598-602
    • Guasch, J.F.1    Bertina, R.M.2    Reitsma, P.H.3
  • 39
    • 0344120957 scopus 로고
    • Single base polymorphism at -511 in the human interleukin-1 beta gene (IL1 beta)
    • di Giovine FS, Takhsh E, Blakemore AI, Duff GW. Single base polymorphism at -511 in the human interleukin-1 beta gene (IL1 beta). Hum Mol Genet 1992; 1: 450.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 450
    • di Giovine, F.S.1    Takhsh, E.2    Blakemore, A.I.3    Duff, G.W.4
  • 40
    • 0027212397 scopus 로고
    • Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat
    • Tarlow JK, Blakemore AI, Lennard A et al. Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat. Hum Genet 1993; 91: 403-404.
    • (1993) Hum. Genet. , vol.91 , pp. 403-404
    • Tarlow, J.K.1    Blakemore, A.I.2    Lennard, A.3
  • 41
    • 0034704880 scopus 로고    scopus 로고
    • Interleukin-1 polymorphisms associated with increased risk of gastric cancer
    • El Omar EM, Carrington M, Chow WH et al. Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature 2000; 404: 398-402.
    • (2000) Nature , vol.404 , pp. 398-402
    • El Omar, E.M.1    Carrington, M.2    Chow, W.H.3
  • 42
    • 0031955425 scopus 로고    scopus 로고
    • Presence of the IL-1RA allele 2 (IL1RN*2) is associated with enhanced IL-1beta production in vitro
    • Santtila S, Savinainen K, Hurme M. Presence of the IL-1RA allele 2 (IL1RN*2) is associated with enhanced IL-1beta production in vitro. Scand J Immunol 1998; 47: 195-198.
    • (1998) Scand. J. Immunol. , vol.47 , pp. 195-198
    • Santtila, S.1    Savinainen, K.2    Hurme, M.3
  • 43
    • 0028913484 scopus 로고
    • Cytokine production by normal human monocytes: Inter-subject variation and relationship to an IL-1 receptor antagonist (IL-1Ra) gene polymorphism
    • Danis VA, Millington M, Hyland VJ, Grennan D. Cytokine production by normal human monocytes: inter-subject variation and relationship to an IL-1 receptor antagonist (IL-1Ra) gene polymorphism. Clin Exp Immunol 1995; 99: 303-310.
    • (1995) Clin. Exp. Immunol. , vol.99 , pp. 303-310
    • Danis, V.A.1    Millington, M.2    Hyland, V.J.3    Grennan, D.4
  • 44
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 45
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 46
    • 0003402305 scopus 로고    scopus 로고
    • Arlequin: A Software for Population Genetics Data Analysis. Ver 2.000
    • Genetics and Biometry Lab, Department of Anthropology, University of Geneva
    • Schneider S, Roessli D, Excoffier L. Arlequin: A Software for Population Genetics Data Analysis. Ver 2.000. Genetics and Biometry Lab, Department of Anthropology, University of Geneva, 2000.
    • (2000)
    • Schneider, S.1    Roessli, D.2    Excoffier, L.3
  • 47
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 48
    • 0242691208 scopus 로고    scopus 로고
    • A comparison of Bayesian methods for haplotype reconstruction from population genotype data
    • Stephens M, Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003; 73: 1162-1169.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1162-1169
    • Stephens, M.1    Donnelly, P.2
  • 49
    • 1642313766 scopus 로고    scopus 로고
    • A new algorithm for haplotype-based association analysis: The Stochastic-EM algorithm
    • (on-line early)
    • Tregouet DA, Escolano S, Tiret L, Mallet A, Golmard JL. A new algorithm for haplotype-based association analysis: the Stochastic-EM algorithm. Ann Hum Genet 2004, (on-line early).
    • (2004) Ann. Hum. Genet.
    • Tregouet, D.A.1    Escolano, S.2    Tiret, L.3    Mallet, A.4    Golmard, J.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.