메뉴 건너뛰기




Volumn 52, Issue 12, 2013, Pages 2168-2176

Protective effect of an ERAP1 haplotype in ankylosing spondylitis: Investigating non-MHC genes in HLA-B27-positive individuals

Author keywords

Ankylosing spondylitis; ERAP1; IL23R; Protection haplotype; TNFSF15

Indexed keywords

AMINOPEPTIDASE; BIOLOGICAL MARKER; ENDOPLASMIC RETICULUM AMINOPEPTIDASE 1; HLA B27 ANTIGEN; INTERLEUKIN 23 RECEPTOR; PEPTIDE HYDROLASE; UNCLASSIFIED DRUG; VASCULAR ENDOTHELIAL GROWTH INHIBITOR;

EID: 84887669101     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/ket269     Document Type: Article
Times cited : (33)

References (39)
  • 1
    • 0029879899 scopus 로고    scopus 로고
    • HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom
    • Brown MA, Pile KD, Kennedy LG et al. HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom. Ann Rheum Dis 1996;55:268-70.
    • (1996) Ann Rheum Dis , vol.55 , pp. 268-270
    • Brown, M.A.1    Pile, K.D.2    Kennedy, L.G.3
  • 2
    • 0030783099 scopus 로고    scopus 로고
    • Susceptibility to ankylosing spondylitis in twins:the role of genes, HLA, and the environment
    • Brown MA, Kennedy LG, MacGregor AJ et al. Susceptibility to ankylosing spondylitis in twins:the role of genes, HLA, and the environment. Arthritis Rheum 1997;40:1823-8.
    • (1997) Arthritis Rheum , vol.40 , pp. 1823-1828
    • Brown, M.A.1    Kennedy, L.G.2    MacGregor, A.J.3
  • 3
    • 35748981184 scopus 로고    scopus 로고
    • Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
    • Consortium WTCCC/TASC.
    • Consortium WTCCC/TASC. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007;39:1329-37.
    • (2007) Nat Genet , vol.39 , pp. 1329-1337
  • 4
    • 0035075791 scopus 로고    scopus 로고
    • Whole-genome screening in ankylosing spondylitis:evidence of non-MHC genetic-susceptibility loci
    • Laval SH, Timms A, Edwards S et al. Whole-genome screening in ankylosing spondylitis:evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet 2001;68:918-26.
    • (2001) Am J Hum Genet , vol.68 , pp. 918-926
    • Laval, S.H.1    Timms, A.2    Edwards, S.3
  • 5
    • 75749085686 scopus 로고    scopus 로고
    • Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci
    • Consortium TASC.
    • Consortium TASC. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 2010;42:123-7.
    • (2010) Nat Genet , vol.42 , pp. 123-127
  • 6
    • 79960899377 scopus 로고    scopus 로고
    • Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
    • Consortium TASC/WTCCC2.
    • Consortium TASC/WTCCC2. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 2011;43:761-7.
    • (2011) Nat Genet , vol.43 , pp. 761-767
  • 7
    • 0036902105 scopus 로고    scopus 로고
    • An IFN-gamma-induced aminopeptidase in the ER, ERAP1, trims precursors to MHC class I-presented peptides
    • Saric T, Chang SC, Hattori A et al. An IFN-gamma-induced aminopeptidase in the ER, ERAP1, trims precursors to MHC class I-presented peptides. Nat Immunol 2002;3:1169-76.
    • (2002) Nat Immunol , vol.3 , pp. 1169-1176
    • Saric, T.1    Chang, S.C.2    Hattori, A.3
  • 8
    • 22144442460 scopus 로고    scopus 로고
    • Concerted peptide trimming by human ERAP1 and ERAP2 aminopeptidase complexes in the endoplasmic reticulum
    • Saveanu L, Carroll O, Lindo V et al. Concerted peptide trimming by human ERAP1 and ERAP2 aminopeptidase complexes in the endoplasmic reticulum. Nat Immunol 2005;6:689-97.
    • (2005) Nat Immunol , vol.6 , pp. 689-697
    • Saveanu, L.1    Carroll, O.2    Lindo, V.3
  • 9
    • 0345735829 scopus 로고    scopus 로고
    • Shedding of the type II IL-1 decoy receptor requires a multifunctional aminopeptidase, aminopeptidase regulator of TNF receptor type 1 shedding
    • Cui X, Rouhani FN, Hawari F et al. Shedding of the type II IL-1 decoy receptor requires a multifunctional aminopeptidase, aminopeptidase regulator of TNF receptor type 1 shedding. J Immunol 2003;171:6814-9.
    • (2003) J Immunol , vol.171 , pp. 6814-6819
    • Cui, X.1    Rouhani, F.N.2    Hawari, F.3
  • 10
    • 0036604306 scopus 로고    scopus 로고
    • A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R
    • Parham C, Chirica M, Timans J et al. A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R. J Immunol 2002;168:5699-708.
    • (2002) J Immunol , vol.168 , pp. 5699-5708
    • Parham, C.1    Chirica, M.2    Timans, J.3
  • 11
    • 0037434789 scopus 로고    scopus 로고
    • Interleukin-23 rather than interleukin-12 is the critical cytokine for autoimmune inflammation of the brain
    • Cua DJ, Sherlock J, Chen Y et al. Interleukin-23 rather than interleukin-12 is the critical cytokine for autoimmune inflammation of the brain. Nature 2003;421:744-8.
    • (2003) Nature , vol.421 , pp. 744-748
    • Cua, D.J.1    Sherlock, J.2    Chen, Y.3
  • 12
    • 0346962972 scopus 로고    scopus 로고
    • Divergent pro- and anti-inflammatory roles for IL-23 and IL-12 in joint autoimmune inflammation
    • Murphy CA, Langrish CL, Chen Y et al. Divergent pro- and anti-inflammatory roles for IL-23 and IL-12 in joint autoimmune inflammation. J Exp Med 2003;198:1951-7.
    • (2003) J Exp Med , vol.198 , pp. 1951-1957
    • Murphy, C.A.1    Langrish, C.L.2    Chen, Y.3
  • 13
    • 67651214028 scopus 로고    scopus 로고
    • Comprehensive linkage and association analyses identify haplotype, near to the TNFSF15 gene, significantly associated with spondyloarthritis
    • Zinovieva E, Bourgain C, Kadi A et al. Comprehensive linkage and association analyses identify haplotype, near to the TNFSF15 gene, significantly associated with spondyloarthritis. PLoS Genet 2009;5:e1000528.
    • (2009) PLoS Genet , vol.5
    • Zinovieva, E.1    Bourgain, C.2    Kadi, A.3
  • 14
    • 49449115544 scopus 로고    scopus 로고
    • Increased numbers of circulating polyfunctional Th17 memory cells in patients with seronegative spondylarthritides
    • Jandus C, Bioley G, Rivals JP et al. Increased numbers of circulating polyfunctional Th17 memory cells in patients with seronegative spondylarthritides. Arthritis Rheum 2008;58:2307-17.
    • (2008) Arthritis Rheum , vol.58 , pp. 2307-2317
    • Jandus, C.1    Bioley, G.2    Rivals, J.P.3
  • 15
    • 0021347628 scopus 로고
    • The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. A comparison of relatives of spondylitis patients with the general population
    • van der Linden SM, Valkenburg HA, de Jongh BM et al. The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. A comparison of relatives of spondylitis patients with the general population. Arthritis Rheum 1984;27:241-9.
    • (1984) Arthritis Rheum , vol.27 , pp. 241-249
    • van der Linden, S.M.1    Valkenburg, H.A.2    de Jongh, B.M.3
  • 16
    • 0021272107 scopus 로고
    • Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria
    • van der Linden S, Valkenburg HA, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 1984;27:361-8.
    • (1984) Arthritis Rheum , vol.27 , pp. 361-368
    • van der Linden, S.1    Valkenburg, H.A.2    Cats, A.3
  • 17
    • 72949094188 scopus 로고    scopus 로고
    • Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population
    • Pimentel-Santos FM, Ligeiro D, Matos M et al. Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population. Clin Exp Rheumatol 2009;27:800-6.
    • (2009) Clin Exp Rheumatol , vol.27 , pp. 800-806
    • Pimentel-Santos, F.M.1    Ligeiro, D.2    Matos, M.3
  • 18
    • 34548292504 scopus 로고    scopus 로고
    • PLINK:a tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K et al. PLINK:a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3
  • 21
    • 78649508578 scopus 로고    scopus 로고
    • MaCH:using sequence and genotype data to estimate haplotypes and unobserved genotypes
    • Li Y, Willer CJ, Ding J et al. MaCH:using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010;34:816-34.
    • (2010) Genet Epidemiol , vol.34 , pp. 816-834
    • Li, Y.1    Willer, C.J.2    Ding, J.3
  • 22
    • 77956586071 scopus 로고    scopus 로고
    • LocusZoom:regional visualization of genome-wide association scan results
    • Pruim RJ, Welch RP, Sanna S et al. LocusZoom:regional visualization of genome-wide association scan results. Bioinformatics 2010;26:2336-7.
    • (2010) Bioinformatics , vol.26 , pp. 2336-2337
    • Pruim, R.J.1    Welch, R.P.2    Sanna, S.3
  • 23
    • 13444269543 scopus 로고    scopus 로고
    • Haploview:analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J et al. Haploview:analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-5.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3
  • 24
    • 18444369013 scopus 로고    scopus 로고
    • The structure of haplotype blocks in the human genome
    • Gabriel SB, Schaffner SF, Nguyen H et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225-9.
    • (2002) Science , vol.296 , pp. 2225-2229
    • Gabriel, S.B.1    Schaffner, S.F.2    Nguyen, H.3
  • 25
    • 12244264435 scopus 로고    scopus 로고
    • Genetic Power Calculator:design of linkage and association genetic mapping studies of complex traits
    • Purcell S, Cherny SS, Sham PC. Genetic Power Calculator:design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003;19:149-50.
    • (2003) Bioinformatics , vol.19 , pp. 149-150
    • Purcell, S.1    Cherny, S.S.2    Sham, P.C.3
  • 26
    • 77949458118 scopus 로고    scopus 로고
    • ARTS1 polymorphisms are associated with ankylosing spondylitis in Koreans
    • Choi CB, Kim TH, Jun JB et al. ARTS1 polymorphisms are associated with ankylosing spondylitis in Koreans. Ann Rheum Dis 2010;69:582-4.
    • (2010) Ann Rheum Dis , vol.69 , pp. 582-584
    • Choi, C.B.1    Kim, T.H.2    Jun, J.B.3
  • 27
    • 70350525335 scopus 로고    scopus 로고
    • Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population
    • Davidson SI, Wu X, Liu Y et al. Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population. Arthritis Rheum 2009;60:3263-8.
    • (2009) Arthritis Rheum , vol.60 , pp. 3263-3268
    • Davidson, S.I.1    Wu, X.2    Liu, Y.3
  • 28
    • 66049103503 scopus 로고    scopus 로고
    • Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis
    • Maksymowych WP, Inman RD, Gladman DD et al. Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. Arthritis Rheum 2009;60:1317-23.
    • (2009) Arthritis Rheum , vol.60 , pp. 1317-1323
    • Maksymowych, W.P.1    Inman, R.D.2    Gladman, D.D.3
  • 29
    • 53049097091 scopus 로고    scopus 로고
    • The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis
    • Rueda B, Orozco G, Raya E et al. The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis. Ann Rheum Dis 2008;67:1451-4.
    • (2008) Ann Rheum Dis , vol.67 , pp. 1451-1454
    • Rueda, B.1    Orozco, G.2    Raya, E.3
  • 30
    • 67649815922 scopus 로고    scopus 로고
    • Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjogren syndrome in Hungarian population samples
    • Safrany E, Pazar B, Csongei V et al. Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjogren syndrome in Hungarian population samples. Scand J Immunol 2009;70:68-74.
    • (2009) Scand J Immunol , vol.70 , pp. 68-74
    • Safrany, E.1    Pazar, B.2    Csongei, V.3
  • 31
    • 77950331522 scopus 로고    scopus 로고
    • Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis
    • Tsui FW, Haroon N, Reveille JD et al. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. Ann Rheum Dis 2010;69:733-6.
    • (2010) Ann Rheum Dis , vol.69 , pp. 733-736
    • Tsui, F.W.1    Haroon, N.2    Reveille, J.D.3
  • 32
    • 70349991884 scopus 로고    scopus 로고
    • Investigating the genetic association between ERAP1 and ankylosing spondylitis
    • Harvey D, Pointon JJ, Evans DM et al. Investigating the genetic association between ERAP1 and ankylosing spondylitis. Hum Mol Genet 2009;18:4204-12.
    • (2009) Hum Mol Genet , vol.18 , pp. 4204-4212
    • Harvey, D.1    Pointon, J.J.2    Evans, D.M.3
  • 33
    • 84855168152 scopus 로고    scopus 로고
    • ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population
    • Szczypiorska M, Sanchez A, Bartolome N et al. ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population. Rheumatology 2011;50:1969-75.
    • (2011) Rheumatology , vol.50 , pp. 1969-1975
    • Szczypiorska, M.1    Sanchez, A.2    Bartolome, N.3
  • 34
    • 76649083225 scopus 로고    scopus 로고
    • Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population:the rs27044 variant is associated with HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis
    • Pazar B, Safrany E, Gergely P et al. Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population:the rs27044 variant is associated with HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis. J Rheumatol 2010;37:379-84.
    • (2010) J Rheumatol , vol.37 , pp. 379-384
    • Pazar, B.1    Safrany, E.2    Gergely, P.3
  • 35
    • 79955638487 scopus 로고    scopus 로고
    • Structural basis for antigenic peptide precursor processing by the endoplasmic reticulum aminopeptidase ERAP1
    • Nguyen TT, Chang SC, Evnouchidou I et al. Structural basis for antigenic peptide precursor processing by the endoplasmic reticulum aminopeptidase ERAP1. Nat Struct Mol Biol 2011;18:604-13.
    • (2011) Nat Struct Mol Biol , vol.18 , pp. 604-613
    • Nguyen, T.T.1    Chang, S.C.2    Evnouchidou, I.3
  • 36
    • 79956348710 scopus 로고    scopus 로고
    • Crystal structures of the endoplasmic reticulum aminopeptidase-1 (ERAP1) reveal the molecular basis for N-terminal peptide trimming
    • Kochan G, Krojer T, Harvey D et al. Crystal structures of the endoplasmic reticulum aminopeptidase-1 (ERAP1) reveal the molecular basis for N-terminal peptide trimming. Proc Natl Acad Sci USA 2011;108:7745-50.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 7745-7750
    • Kochan, G.1    Krojer, T.2    Harvey, D.3
  • 37
    • 84869219870 scopus 로고    scopus 로고
    • Functional interaction of the ankylosing spondylitisassociated endoplasmic reticulum aminopeptidase 1 polymorphism and HLA-B27 in vivo
    • Garcia-Medel N, Sanz-Bravo A, Van Nguyen D et al. Functional interaction of the ankylosing spondylitisassociated endoplasmic reticulum aminopeptidase 1 polymorphism and HLA-B27 in vivo. Mol Cell Proteomics 2012;11:1416-29.
    • (2012) Mol Cell Proteomics , vol.11 , pp. 1416-1429
    • Garcia-Medel, N.1    Sanz-Bravo, A.2    Van Nguyen, D.3
  • 38
    • 0036884090 scopus 로고    scopus 로고
    • The ER aminopeptidase ERAP1 enhances or limits antigen presentation by trimming epitopes to 8-9 residues
    • York IA, Chang SC, Saric T et al. The ER aminopeptidase ERAP1 enhances or limits antigen presentation by trimming epitopes to 8-9 residues. Nat Immunol 2002;3:1177-84.
    • (2002) Nat Immunol , vol.3 , pp. 1177-1184
    • York, I.A.1    Chang, S.C.2    Saric, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.