Skip to main content
Top
Published in: Arthritis Research & Therapy 5/2009

01-10-2009 | Review

Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis

Author: Matthew A Brown

Published in: Arthritis Research & Therapy | Issue 5/2009

Login to get access

Abstract

The advent of high-throughput SNP genotyping methods has advanced research into the genetics of common complex genetic diseases such as ankylosing spondylitis (AS) rapidly in recent times. The identification of associations with the genes IL23R and ERAP1 have been robustly replicated, and advances have been made in studies of the major histocompatibility complex genetics of AS, and of KIR gene variants and the disease. The findings are already being translated into increased understanding of the immunological pathways involved in AS, and raising novel potential therapies. The current studies in AS remain underpowered, and no full genomewide association study has yet been reported in AS; such studies are likely to add to the significant advances that have already been made.
Appendix
Available only for authorised users
Literature
1.
go back to reference Brophy S, Hickey S, Menon A, Taylor G, Bradbury L, Hamersma J, Brown MA, Calin A: Concordance of disease severity among family members with ankylosing spondylitis?. J Rheumatol. 2004, 31: 1775-1778.PubMed Brophy S, Hickey S, Menon A, Taylor G, Bradbury L, Hamersma J, Brown MA, Calin A: Concordance of disease severity among family members with ankylosing spondylitis?. J Rheumatol. 2004, 31: 1775-1778.PubMed
2.
go back to reference Brown MA, Brophy S, Bradbury L, Hamersma J, Timms A, Laval S, Cardon L, Calin A, Wordsworth BP: Identification of major loci controlling clinical manifestations of ankylosing spondylitis. Arthritis Rheum. 2003, 48: 2234-2239. 10.1002/art.11106.CrossRefPubMed Brown MA, Brophy S, Bradbury L, Hamersma J, Timms A, Laval S, Cardon L, Calin A, Wordsworth BP: Identification of major loci controlling clinical manifestations of ankylosing spondylitis. Arthritis Rheum. 2003, 48: 2234-2239. 10.1002/art.11106.CrossRefPubMed
3.
go back to reference Hamersma J, Cardon LR, Bradbury L, Brophy S, Horst-Bruinsma van der I, Calin A, Brown MA: Is disease severity in ankylosing spondylitis genetically determined?. Arthritis Rheum. 2001, 44: 1396-1400. 10.1002/1529-0131(200106)44:6<1396::AID-ART233>3.0.CO;2-A.CrossRefPubMed Hamersma J, Cardon LR, Bradbury L, Brophy S, Horst-Bruinsma van der I, Calin A, Brown MA: Is disease severity in ankylosing spondylitis genetically determined?. Arthritis Rheum. 2001, 44: 1396-1400. 10.1002/1529-0131(200106)44:6<1396::AID-ART233>3.0.CO;2-A.CrossRefPubMed
4.
go back to reference Carter N, Williamson L, Kennedy LG, Brown MA, Wordsworth BP: Susceptibility to ankylosing spondylitis [letter]. Rheumatology (Oxford). 2000, 39: 445-10.1093/rheumatology/39.4.445.CrossRef Carter N, Williamson L, Kennedy LG, Brown MA, Wordsworth BP: Susceptibility to ankylosing spondylitis [letter]. Rheumatology (Oxford). 2000, 39: 445-10.1093/rheumatology/39.4.445.CrossRef
5.
go back to reference Calin A, Marder A, Becks E, Burns T: Genetic differences between B27 positive patients with ankylosing spondylitis and B27 positive healthy controls. Arthritis Rheum. 1983, 26: 1460-1464. 10.1002/art.1780261207.CrossRefPubMed Calin A, Marder A, Becks E, Burns T: Genetic differences between B27 positive patients with ankylosing spondylitis and B27 positive healthy controls. Arthritis Rheum. 1983, 26: 1460-1464. 10.1002/art.1780261207.CrossRefPubMed
6.
go back to reference Linden van der S, Valkenburg H, Cats A: The risk of developing ankylosing spondylitis in HLA-B27 positive individuals: a family and population study. Br J Rheumatol. 1983, 22 (4 Suppl 2): 18-19.CrossRefPubMed Linden van der S, Valkenburg H, Cats A: The risk of developing ankylosing spondylitis in HLA-B27 positive individuals: a family and population study. Br J Rheumatol. 1983, 22 (4 Suppl 2): 18-19.CrossRefPubMed
7.
go back to reference Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL, Taylor A, Calin A, Wordsworth P: Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum. 1997, 40: 1823-1828. 10.1002/art.1780401015.CrossRefPubMed Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL, Taylor A, Calin A, Wordsworth P: Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum. 1997, 40: 1823-1828. 10.1002/art.1780401015.CrossRefPubMed
8.
go back to reference Brown MA, Laval SH, Brophy S, Calin A: Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis. Ann Rheum Dis. 2000, 59: 883-886. 10.1136/ard.59.11.883.PubMedCentralCrossRefPubMed Brown MA, Laval SH, Brophy S, Calin A: Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis. Ann Rheum Dis. 2000, 59: 883-886. 10.1136/ard.59.11.883.PubMedCentralCrossRefPubMed
9.
go back to reference Laval SH, Timms A, Edwards S, Bradbury L, Brophy S, Milicic A, Rubin L, Siminovitch KA, Weeks DE, Calin A, Wordsworth BP, Brown MA: Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet. 2001, 68: 918-926. 10.1086/319509.PubMedCentralCrossRefPubMed Laval SH, Timms A, Edwards S, Bradbury L, Brophy S, Milicic A, Rubin L, Siminovitch KA, Weeks DE, Calin A, Wordsworth BP, Brown MA: Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet. 2001, 68: 918-926. 10.1086/319509.PubMedCentralCrossRefPubMed
10.
go back to reference Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondyloarthritis Consortium: Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007, 39: 1329-1337. 10.1038/ng.2007.17.CrossRef Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondyloarthritis Consortium: Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007, 39: 1329-1337. 10.1038/ng.2007.17.CrossRef
11.
go back to reference MacLean IL, Iqball S, Woo P, Keat AC, Hughes RA, Kingsley GH, Knight SC: HLA-B27 subtypes in the spondarthropathies. Clin Exp Immunol. 1993, 91: 214-219.PubMedCentralCrossRefPubMed MacLean IL, Iqball S, Woo P, Keat AC, Hughes RA, Kingsley GH, Knight SC: HLA-B27 subtypes in the spondarthropathies. Clin Exp Immunol. 1993, 91: 214-219.PubMedCentralCrossRefPubMed
12.
go back to reference Reveille JD, Inman R, Khan M, Yu DTK, Jin L: Family studies in ankylosing spondylitis: microsatellite analysis of 55 concordant sib pairs. J Rheumatol. 2000, 27 (Suppl 59): 5- Reveille JD, Inman R, Khan M, Yu DTK, Jin L: Family studies in ankylosing spondylitis: microsatellite analysis of 55 concordant sib pairs. J Rheumatol. 2000, 27 (Suppl 59): 5-
13.
go back to reference Lopez-Larrea C, Sujirachato K, Mehra NK, Chiewsilp P, Isarangkura D, Kanga U, Dominguez O, Coto E, Pena M, Setien F, Gonzales-Roces S: HLA-B27 subtypes in Asian patients with ankylosing spondylitis. Evidence for new associations. Tissue Antigens. 1995, 45: 169-176. 10.1111/j.1399-0039.1995.tb02436.x.CrossRefPubMed Lopez-Larrea C, Sujirachato K, Mehra NK, Chiewsilp P, Isarangkura D, Kanga U, Dominguez O, Coto E, Pena M, Setien F, Gonzales-Roces S: HLA-B27 subtypes in Asian patients with ankylosing spondylitis. Evidence for new associations. Tissue Antigens. 1995, 45: 169-176. 10.1111/j.1399-0039.1995.tb02436.x.CrossRefPubMed
14.
go back to reference Gonzalez-Roces S, Alvarez MV, Gonzalez S, Dieye A, Makni H, Woodfield DG, Housan L, Konenkov V, Abbadi MC, Grunnet N, Coto E, López-Larrea C: HLA-B27 polymorphism and worldwide susceptibility to ankylosing spondylitis. Tissue Antigens. 1997, 49: 116-123. 10.1111/j.1399-0039.1997.tb02724.x.CrossRefPubMed Gonzalez-Roces S, Alvarez MV, Gonzalez S, Dieye A, Makni H, Woodfield DG, Housan L, Konenkov V, Abbadi MC, Grunnet N, Coto E, López-Larrea C: HLA-B27 polymorphism and worldwide susceptibility to ankylosing spondylitis. Tissue Antigens. 1997, 49: 116-123. 10.1111/j.1399-0039.1997.tb02724.x.CrossRefPubMed
15.
go back to reference Armas JB, Gonzalez S, Martinez-Borra J, Laranjeira F, Ribeiro E, Correia J, Ferreira ML, Toste M, Lopez-Vazquez A, Lopez-Larrea C: Susceptibility to ankylosing spondylitis is independent of the Bw4 and Bw6 epitopes of HLA-B27 alleles. Tissue Antigens. 1999, 53: 237-243. 10.1034/j.1399-0039.1999.530303.x.CrossRefPubMed Armas JB, Gonzalez S, Martinez-Borra J, Laranjeira F, Ribeiro E, Correia J, Ferreira ML, Toste M, Lopez-Vazquez A, Lopez-Larrea C: Susceptibility to ankylosing spondylitis is independent of the Bw4 and Bw6 epitopes of HLA-B27 alleles. Tissue Antigens. 1999, 53: 237-243. 10.1034/j.1399-0039.1999.530303.x.CrossRefPubMed
16.
go back to reference Ben Radhia K, Ayed-Jendoubi S, Sfar I, Ben Romdhane T, Makhlouf M, Gorgi Y, Ayed K: Distribution of HLA-B*27 subtypes in Tunisians and their association with ankylosing spondylitis. Joint Bone Spine. 2008, 75: 172-175. 10.1016/j.jbspin.2007.05.020.CrossRefPubMed Ben Radhia K, Ayed-Jendoubi S, Sfar I, Ben Romdhane T, Makhlouf M, Gorgi Y, Ayed K: Distribution of HLA-B*27 subtypes in Tunisians and their association with ankylosing spondylitis. Joint Bone Spine. 2008, 75: 172-175. 10.1016/j.jbspin.2007.05.020.CrossRefPubMed
17.
go back to reference Garcia F, Rognan D, Lamas JR, Marina A, Lopez de Castro JA: An HLA-B27 polymorphism (B*2710) that is critical for T-cell recognition has limited effects on peptide specificity. Tissue Antigens. 1998, 51: 1-9. 10.1111/j.1399-0039.1998.tb02941.x.CrossRefPubMed Garcia F, Rognan D, Lamas JR, Marina A, Lopez de Castro JA: An HLA-B27 polymorphism (B*2710) that is critical for T-cell recognition has limited effects on peptide specificity. Tissue Antigens. 1998, 51: 1-9. 10.1111/j.1399-0039.1998.tb02941.x.CrossRefPubMed
18.
go back to reference Garcia-Fernandez S, Gonzalez S, Mina Blanco A, Martinez-Borra J, Blanco-Gelaz M, Lopez-Vazquez A, Lopez-Larrea C: New insights regarding HLA-B27 diversity in the Asian population. Tissue Antigens. 2001, 58: 259-262. 10.1034/j.1399-0039.2001.580407.x.CrossRefPubMed Garcia-Fernandez S, Gonzalez S, Mina Blanco A, Martinez-Borra J, Blanco-Gelaz M, Lopez-Vazquez A, Lopez-Larrea C: New insights regarding HLA-B27 diversity in the Asian population. Tissue Antigens. 2001, 58: 259-262. 10.1034/j.1399-0039.2001.580407.x.CrossRefPubMed
19.
go back to reference Tamouza R, Mansour I, Bouguacha N, Klayme S, Djouadi K, Laoussadi S, Azoury M, Dulphy N, Ramasawmy R, Krishnamoorthy R, Toubert A, Naman R, Charron D: A new HLA-B*27 allele (B*2719) identified in a Lebanese patient affected with ankylosing spondylitis. Tissue Antigens. 2001, 58: 30-33. 10.1034/j.1399-0039.2001.580105.x.CrossRefPubMed Tamouza R, Mansour I, Bouguacha N, Klayme S, Djouadi K, Laoussadi S, Azoury M, Dulphy N, Ramasawmy R, Krishnamoorthy R, Toubert A, Naman R, Charron D: A new HLA-B*27 allele (B*2719) identified in a Lebanese patient affected with ankylosing spondylitis. Tissue Antigens. 2001, 58: 30-33. 10.1034/j.1399-0039.2001.580105.x.CrossRefPubMed
20.
go back to reference Grubic Z, Stingl K, Kerhin-Brkljacic V, Zunec R: The study of the extended haplotypes of rare HLA-B*2730 allele using microsatellite loci. Tissue Antigens. 2008, 71: 514-519. 10.1111/j.1399-0039.2008.01033.x.CrossRefPubMed Grubic Z, Stingl K, Kerhin-Brkljacic V, Zunec R: The study of the extended haplotypes of rare HLA-B*2730 allele using microsatellite loci. Tissue Antigens. 2008, 71: 514-519. 10.1111/j.1399-0039.2008.01033.x.CrossRefPubMed
21.
go back to reference Damato M, Fiorillo M, Carcassi C, Mathieu A, Zuccarelli A, Bitti P, Tosi R, Sorrentino R: Relevance of residue 116 of HLA-B27 in determining susceptibility to ankylosing spondylitis. Eur J Immunol. 1995, 25: 3199-3201. 10.1002/eji.1830251133.CrossRef Damato M, Fiorillo M, Carcassi C, Mathieu A, Zuccarelli A, Bitti P, Tosi R, Sorrentino R: Relevance of residue 116 of HLA-B27 in determining susceptibility to ankylosing spondylitis. Eur J Immunol. 1995, 25: 3199-3201. 10.1002/eji.1830251133.CrossRef
22.
go back to reference Olivieri I, D'Angelo S, Scarano E, Santospirito V, Padula A: The HLA-B*2709 subtype in a woman with early ankylosing spondylitis. Arthritis Rheum. 2007, 56: 2805-2807. 10.1002/art.22821.CrossRefPubMed Olivieri I, D'Angelo S, Scarano E, Santospirito V, Padula A: The HLA-B*2709 subtype in a woman with early ankylosing spondylitis. Arthritis Rheum. 2007, 56: 2805-2807. 10.1002/art.22821.CrossRefPubMed
23.
go back to reference Cauli A, Vacca A, Mameli A, Passiu G, Fiorillo MT, Sorrentino R, Mathieu A: A Sardinian patient with ankylosing spondylitis and HLA-B*2709 co-occurring with HLA-B*1403. Arthritis Rheum. 2007, 56: 2807-2809. 10.1002/art.22819.CrossRefPubMed Cauli A, Vacca A, Mameli A, Passiu G, Fiorillo MT, Sorrentino R, Mathieu A: A Sardinian patient with ankylosing spondylitis and HLA-B*2709 co-occurring with HLA-B*1403. Arthritis Rheum. 2007, 56: 2807-2809. 10.1002/art.22819.CrossRefPubMed
24.
go back to reference Diaz-Pena R, Blanco-Gelaz MA, Njobvu P, Lopez-Vazquez A, Suarez-Alvarez B, Lopez-Larrea C: Influence of HLA-B*5703 and HLA-B*1403 on susceptibility to spondyloarthropathies in the Zambian population. J Rheumatol. 2008, 35: 2236-2240. 10.3899/jrheum.080395.CrossRefPubMed Diaz-Pena R, Blanco-Gelaz MA, Njobvu P, Lopez-Vazquez A, Suarez-Alvarez B, Lopez-Larrea C: Influence of HLA-B*5703 and HLA-B*1403 on susceptibility to spondyloarthropathies in the Zambian population. J Rheumatol. 2008, 35: 2236-2240. 10.3899/jrheum.080395.CrossRefPubMed
25.
go back to reference Lopez-Larrea C, Mijiyawa M, Gonzalez S, Fernandez-Morera JL, Blanco-Gelaz MA, Martinez-Borra J, Lopez-Vazquez A: Association of ankylosing spondylitis with HLA-B*1403 in a West African population. Arthritis Rheum. 2002, 46: 2968-2971. 10.1002/art.10584.CrossRefPubMed Lopez-Larrea C, Mijiyawa M, Gonzalez S, Fernandez-Morera JL, Blanco-Gelaz MA, Martinez-Borra J, Lopez-Vazquez A: Association of ankylosing spondylitis with HLA-B*1403 in a West African population. Arthritis Rheum. 2002, 46: 2968-2971. 10.1002/art.10584.CrossRefPubMed
26.
go back to reference Hou TY, Chen HC, Chen CH, Chang DM, Liu FC, Lai JH: Usefulness of human leucocyte antigen-B27 subtypes in predicting ankylosing spondylitis: Taiwan experience. Intern Med J. 2007, 37: 749-752.PubMed Hou TY, Chen HC, Chen CH, Chang DM, Liu FC, Lai JH: Usefulness of human leucocyte antigen-B27 subtypes in predicting ankylosing spondylitis: Taiwan experience. Intern Med J. 2007, 37: 749-752.PubMed
27.
go back to reference Sudarsono D, Hadi S, Mardjuadi A, Nasution AR, Dekker-Saeys AJ, Breur-Vriesendorp BS, Lardy NM, Feltkamp TE: Evidence that HLA-B*2706 is not protective against spondyloarthropathy. J Rheumatol. 1999, 26: 1534-1536.PubMed Sudarsono D, Hadi S, Mardjuadi A, Nasution AR, Dekker-Saeys AJ, Breur-Vriesendorp BS, Lardy NM, Feltkamp TE: Evidence that HLA-B*2706 is not protective against spondyloarthropathy. J Rheumatol. 1999, 26: 1534-1536.PubMed
28.
go back to reference Robinson WP, Linden van der SM, Khan MA, Rentsch HU, Cats A, Russell A, Thomson G: HLA-Bw60 increases susceptibility to ankylosing spondylitis in HLA-B27+ patients. Arthritis Rheum. 1989, 32: 1135-1141. 10.1002/anr.1780320912.CrossRefPubMed Robinson WP, Linden van der SM, Khan MA, Rentsch HU, Cats A, Russell A, Thomson G: HLA-Bw60 increases susceptibility to ankylosing spondylitis in HLA-B27+ patients. Arthritis Rheum. 1989, 32: 1135-1141. 10.1002/anr.1780320912.CrossRefPubMed
29.
go back to reference Brown MA, Pile KD, Kennedy LG, Calin A, Darke C, Bell J, Wordsworth BP, Cornelis F: HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom. Ann Rheum Dis. 1996, 55: 268-270. 10.1136/ard.55.4.268.PubMedCentralCrossRefPubMed Brown MA, Pile KD, Kennedy LG, Calin A, Darke C, Bell J, Wordsworth BP, Cornelis F: HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom. Ann Rheum Dis. 1996, 55: 268-270. 10.1136/ard.55.4.268.PubMedCentralCrossRefPubMed
30.
go back to reference Wei JC, Tsai WC, Lin HS, Tsai CY, Chou CT: HLA-B60 and B61 are strongly associated with ankylosing spondylitis in HLA-B27-negative Taiwan Chinese patients. Rheumatology (Oxford). 2004, 43: 839-842. 10.1093/rheumatology/keh193.CrossRef Wei JC, Tsai WC, Lin HS, Tsai CY, Chou CT: HLA-B60 and B61 are strongly associated with ankylosing spondylitis in HLA-B27-negative Taiwan Chinese patients. Rheumatology (Oxford). 2004, 43: 839-842. 10.1093/rheumatology/keh193.CrossRef
31.
go back to reference Sims AM, Wordsworth BP, Brown MA: Genetic susceptibility to ankylosing spondylitis. Curr Mol Med. 2004, 4: 13-20. 10.2174/1566524043479284.CrossRefPubMed Sims AM, Wordsworth BP, Brown MA: Genetic susceptibility to ankylosing spondylitis. Curr Mol Med. 2004, 4: 13-20. 10.2174/1566524043479284.CrossRefPubMed
32.
go back to reference Sims AM, Barnardo M, Herzberg I, Bradbury L, Calin A, Wordsworth BP, Darke C, Brown MA: Non-B27 MHC associations of ankylosing spondylitis. Genes Immun. 2007, 8: 115-123. 10.1038/sj.gene.6364362.CrossRefPubMed Sims AM, Barnardo M, Herzberg I, Bradbury L, Calin A, Wordsworth BP, Darke C, Brown MA: Non-B27 MHC associations of ankylosing spondylitis. Genes Immun. 2007, 8: 115-123. 10.1038/sj.gene.6364362.CrossRefPubMed
33.
go back to reference Nejentsev S, Howson JM, Walker NM, Szeszko J, Field SF, Stevens HE, Reynolds P, Hardy M, King E, Masters J, Hulme J, Maier LM, Smyth D, Bailey R, Cooper JD, Ribas G, Campbell RD, Clayton DG, Todd JA: Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature. 2007, 450: 887-892. 10.1038/nature06406.PubMedCentralCrossRefPubMed Nejentsev S, Howson JM, Walker NM, Szeszko J, Field SF, Stevens HE, Reynolds P, Hardy M, King E, Masters J, Hulme J, Maier LM, Smyth D, Bailey R, Cooper JD, Ribas G, Campbell RD, Clayton DG, Todd JA: Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature. 2007, 450: 887-892. 10.1038/nature06406.PubMedCentralCrossRefPubMed
34.
go back to reference Rueda B, Orozco G, Raya E, Fernandez-Sueiro JL, Mulero J, Blanco FJ, Vilches C, Gonzalez-Gay MA, Martin J: The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis. Ann Rheum Dis. 2008, 67: 1451-1454. 10.1136/ard.2007.080283.CrossRefPubMed Rueda B, Orozco G, Raya E, Fernandez-Sueiro JL, Mulero J, Blanco FJ, Vilches C, Gonzalez-Gay MA, Martin J: The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis. Ann Rheum Dis. 2008, 67: 1451-1454. 10.1136/ard.2007.080283.CrossRefPubMed
35.
go back to reference Rahman P, Inman RD, Gladman DD, Reeve JP, Peddle L, Maksymowych WP: Association of interleukin-23 receptor variants with ankylosing spondylitis. Arthritis Rheum. 2008, 58: 1020-1025. 10.1002/art.23389.CrossRefPubMed Rahman P, Inman RD, Gladman DD, Reeve JP, Peddle L, Maksymowych WP: Association of interleukin-23 receptor variants with ankylosing spondylitis. Arthritis Rheum. 2008, 58: 1020-1025. 10.1002/art.23389.CrossRefPubMed
36.
go back to reference Karaderi T, Harvey D, Farrar C, Appleton LH, Stone MA, Sturrock RD, Brown MA, Wordsworth P, Pointon JJ: Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series. Rheumatology (Oxford). 2009, [Epub ahead ofprint.] Karaderi T, Harvey D, Farrar C, Appleton LH, Stone MA, Sturrock RD, Brown MA, Wordsworth P, Pointon JJ: Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series. Rheumatology (Oxford). 2009, [Epub ahead ofprint.]
37.
go back to reference Fung E, Smyth DJ, Howson JM, Cooper JD, Walker NM, Stevens H, Wicker LS, Todd JA: Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus. Genes Immun. 2009, 10: 188-191. 10.1038/gene.2008.99.CrossRefPubMed Fung E, Smyth DJ, Howson JM, Cooper JD, Walker NM, Stevens H, Wicker LS, Todd JA: Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus. Genes Immun. 2009, 10: 188-191. 10.1038/gene.2008.99.CrossRefPubMed
38.
go back to reference Mehta AM, Jordanova ES, Corver WE, van Wezel T, Uh HW, Kenter GG, Jan Fleuren G: Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma. Genes Chromosomes Cancer. 2009 [Epub ahead of print.] Mehta AM, Jordanova ES, Corver WE, van Wezel T, Uh HW, Kenter GG, Jan Fleuren G: Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma. Genes Chromosomes Cancer. 2009 [Epub ahead of print.]
39.
go back to reference Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH: A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006, 314: 1461-1463. 10.1126/science.1135245.PubMedCentralCrossRefPubMed Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH: A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006, 314: 1461-1463. 10.1126/science.1135245.PubMedCentralCrossRefPubMed
40.
go back to reference Dubinsky MC, Wang D, Picornell Y, Wrobel I, Katzir L, Quiros A, Dutridge D, Wahbeh G, Silber G, Bahar R, Mengesha E, Targan SR, Taylor KD, Rotter JI: IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease. Inflamm Bowel Dis. 2007, 13: 511-515. 10.1002/ibd.20126.PubMedCentralCrossRefPubMed Dubinsky MC, Wang D, Picornell Y, Wrobel I, Katzir L, Quiros A, Dutridge D, Wahbeh G, Silber G, Bahar R, Mengesha E, Targan SR, Taylor KD, Rotter JI: IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease. Inflamm Bowel Dis. 2007, 13: 511-515. 10.1002/ibd.20126.PubMedCentralCrossRefPubMed
41.
go back to reference Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB: A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet. 2007, 80: 273-390. 10.1086/511051.PubMedCentralCrossRefPubMed Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB: A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet. 2007, 80: 273-390. 10.1086/511051.PubMedCentralCrossRefPubMed
42.
go back to reference Yamazaki K, Onouchi Y, Takazoe M, Kubo M, Nakamura Y, Hata A: Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. J Hum Genet. 2007, 52: 575-583. 10.1007/s10038-007-0156-z.CrossRefPubMed Yamazaki K, Onouchi Y, Takazoe M, Kubo M, Nakamura Y, Hata A: Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. J Hum Genet. 2007, 52: 575-583. 10.1007/s10038-007-0156-z.CrossRefPubMed
43.
go back to reference Jandus C, Bioley G, Rivals JP, Dudler J, Speiser D, Romero P: Increased numbers of circulating polyfunctional Th17 memory cells in patients with seronegative spondylarthritides. Arthritis Rheum. 2008, 58: 2307-2317. 10.1002/art.23655.CrossRefPubMed Jandus C, Bioley G, Rivals JP, Dudler J, Speiser D, Romero P: Increased numbers of circulating polyfunctional Th17 memory cells in patients with seronegative spondylarthritides. Arthritis Rheum. 2008, 58: 2307-2317. 10.1002/art.23655.CrossRefPubMed
44.
go back to reference Wendling D, Cedoz JP, Racadot E, Dumoulin G: Serum IL-17, BMP-7, and bone turnover markers in patients with ankylosing spondylitis. Joint Bone Spine. 2007, 74: 304-305. 10.1016/j.jbspin.2006.11.005.CrossRefPubMed Wendling D, Cedoz JP, Racadot E, Dumoulin G: Serum IL-17, BMP-7, and bone turnover markers in patients with ankylosing spondylitis. Joint Bone Spine. 2007, 74: 304-305. 10.1016/j.jbspin.2006.11.005.CrossRefPubMed
45.
go back to reference Kauffman CL, Aria N, Toichi E, McCormick TS, Cooper KD, Gottlieb AB, Everitt DE, Frederick B, Zhu Y, Graham MA, Pendley CE, Mascelli MA: A phase I study evaluating the safety, pharmacokinetics, and clinical response of a human IL-12 p40 antibody in subjects with plaque psoriasis. J Invest Dermatol. 2004, 123: 1037-1044. 10.1111/j.0022-202X.2004.23448.x.CrossRefPubMed Kauffman CL, Aria N, Toichi E, McCormick TS, Cooper KD, Gottlieb AB, Everitt DE, Frederick B, Zhu Y, Graham MA, Pendley CE, Mascelli MA: A phase I study evaluating the safety, pharmacokinetics, and clinical response of a human IL-12 p40 antibody in subjects with plaque psoriasis. J Invest Dermatol. 2004, 123: 1037-1044. 10.1111/j.0022-202X.2004.23448.x.CrossRefPubMed
46.
go back to reference Krueger GG, Langley RG, Leonardi C, Yeilding N, Guzzo C, Wang Y, Dooley LT, Lebwohl M: A human interleukin-12/23 monoclonal antibody for the treatment of psoriasis. N Engl J Med. 2007, 356: 580-592. 10.1056/NEJMoa062382.CrossRefPubMed Krueger GG, Langley RG, Leonardi C, Yeilding N, Guzzo C, Wang Y, Dooley LT, Lebwohl M: A human interleukin-12/23 monoclonal antibody for the treatment of psoriasis. N Engl J Med. 2007, 356: 580-592. 10.1056/NEJMoa062382.CrossRefPubMed
47.
go back to reference Mannon PJ, Fuss IJ, Mayer L, Elson CO, Sandborn WJ, Present D, Dolin B, Goodman N, Groden C, Hornung RL, Quezado M, Neurath MF, Salfeld J, Veldman GM, Schwertschlag U, Strober W, the Anti-IL-12 Crohn's Disease Study Group: Anti-inter-leukin-12 antibody for active Crohn's disease. N Engl J Med. 2004, 351: 2069-2079. 10.1056/NEJMoa033402.CrossRefPubMed Mannon PJ, Fuss IJ, Mayer L, Elson CO, Sandborn WJ, Present D, Dolin B, Goodman N, Groden C, Hornung RL, Quezado M, Neurath MF, Salfeld J, Veldman GM, Schwertschlag U, Strober W, the Anti-IL-12 Crohn's Disease Study Group: Anti-inter-leukin-12 antibody for active Crohn's disease. N Engl J Med. 2004, 351: 2069-2079. 10.1056/NEJMoa033402.CrossRefPubMed
48.
go back to reference Blanchard N, Gonzalez F, Schaeffer M, Joncker NT, Cheng T, Shastri AJ, Robey EA, Shastri N: Immunodominant, protective response to the parasite Toxoplasma gondii requires antigen processing in the endoplasmic reticulum. Nat Immunol. 2008, 9: 937-944. 10.1038/ni.1629.CrossRefPubMed Blanchard N, Gonzalez F, Schaeffer M, Joncker NT, Cheng T, Shastri AJ, Robey EA, Shastri N: Immunodominant, protective response to the parasite Toxoplasma gondii requires antigen processing in the endoplasmic reticulum. Nat Immunol. 2008, 9: 937-944. 10.1038/ni.1629.CrossRefPubMed
49.
go back to reference Chou CT, Timms AE, Wei JC, Tsai WC, Wordsworth BP, Brown MA: Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese. Ann Rheum Dis. 2006, 65: 1106-1109. 10.1136/ard.2005.046847.PubMedCentralCrossRefPubMed Chou CT, Timms AE, Wei JC, Tsai WC, Wordsworth BP, Brown MA: Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese. Ann Rheum Dis. 2006, 65: 1106-1109. 10.1136/ard.2005.046847.PubMedCentralCrossRefPubMed
50.
go back to reference Maksymowych WP, Rahman P, Reeve JP, Gladman DD, Peddle L, Inman RD: Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: an analysis of three Canadian populations. Arthritis Rheum. 2006, 54: 974-985. 10.1002/art.21642.CrossRefPubMed Maksymowych WP, Rahman P, Reeve JP, Gladman DD, Peddle L, Inman RD: Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: an analysis of three Canadian populations. Arthritis Rheum. 2006, 54: 974-985. 10.1002/art.21642.CrossRefPubMed
51.
go back to reference McGarry F, Neilly J, Anderson N, Sturrock R, Field M: A polymorphism within the interleukin 1 receptor antagonist (IL-1Ra) gene is associated with ankylosing spondylitis. Rheumatology (Oxford). 2001, 40: 1359-1364. 10.1093/rheumatology/40.12.1359.CrossRef McGarry F, Neilly J, Anderson N, Sturrock R, Field M: A polymorphism within the interleukin 1 receptor antagonist (IL-1Ra) gene is associated with ankylosing spondylitis. Rheumatology (Oxford). 2001, 40: 1359-1364. 10.1093/rheumatology/40.12.1359.CrossRef
52.
go back to reference Rahman P, Sun S, Peddle L, Snelgrove T, Melay W, Greenwood C, Gladman D: Association between the interleukin-1 family gene cluster and psoriatic arthritis. Arthritis Rheum. 2006, 54: 2321-2325. 10.1002/art.21928.CrossRefPubMed Rahman P, Sun S, Peddle L, Snelgrove T, Melay W, Greenwood C, Gladman D: Association between the interleukin-1 family gene cluster and psoriatic arthritis. Arthritis Rheum. 2006, 54: 2321-2325. 10.1002/art.21928.CrossRefPubMed
53.
go back to reference Sims AM, Timms AE, Bruges-Armas J, Burgos-Vargas R, Chou CT, Doan T, Dowling A, Fialho RN, Gergely P, Gladman DD, Inman R, Kauppi M, Kaarela K, Laiho K, Maksymowych W, Pointon JJ, Rahman P, Reveille JD, Sorrentino R, Tuomilehto J, Vargas-Alarcon G, Wordsworth BP, Xu H, Brown MA: Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis. Ann Rheum Dis. 2008, 67: 1305-1309. 10.1136/ard.2007.081364.CrossRefPubMed Sims AM, Timms AE, Bruges-Armas J, Burgos-Vargas R, Chou CT, Doan T, Dowling A, Fialho RN, Gergely P, Gladman DD, Inman R, Kauppi M, Kaarela K, Laiho K, Maksymowych W, Pointon JJ, Rahman P, Reveille JD, Sorrentino R, Tuomilehto J, Vargas-Alarcon G, Wordsworth BP, Xu H, Brown MA: Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis. Ann Rheum Dis. 2008, 67: 1305-1309. 10.1136/ard.2007.081364.CrossRefPubMed
54.
go back to reference Timms AE, Crane AM, Sims AM, Cordell HJ, Bradbury LA, Abbott A, Coyne MR, Beynon O, Herzberg I, Duff GW, Calin A, Cardon LR, Wordsworth BP, Brown MA: The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis. Am J Hum Genet. 2004, 75: 587-595. 10.1086/424695.PubMedCentralCrossRefPubMed Timms AE, Crane AM, Sims AM, Cordell HJ, Bradbury LA, Abbott A, Coyne MR, Beynon O, Herzberg I, Duff GW, Calin A, Cardon LR, Wordsworth BP, Brown MA: The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis. Am J Hum Genet. 2004, 75: 587-595. 10.1086/424695.PubMedCentralCrossRefPubMed
55.
go back to reference Paardt van der M, Crusius JB, Garcia-Gonzalez MA, Baudoin P, Kostense PJ, Alizadeh BZ, Dijkmans BA, Pena AS, Horst-Bruinsma van der IE: Interleukin-1β and interleukin-1 receptor antagonist gene polymorphisms in ankylosing spondylitis. Rheumatology (Oxford). 2002, 41: 1419-1423. 10.1093/rheumatology/41.12.1419.CrossRef Paardt van der M, Crusius JB, Garcia-Gonzalez MA, Baudoin P, Kostense PJ, Alizadeh BZ, Dijkmans BA, Pena AS, Horst-Bruinsma van der IE: Interleukin-1β and interleukin-1 receptor antagonist gene polymorphisms in ankylosing spondylitis. Rheumatology (Oxford). 2002, 41: 1419-1423. 10.1093/rheumatology/41.12.1419.CrossRef
Metadata
Title
Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis
Author
Matthew A Brown
Publication date
01-10-2009
Publisher
BioMed Central
Published in
Arthritis Research & Therapy / Issue 5/2009
Electronic ISSN: 1478-6362
DOI
https://doi.org/10.1186/ar2692

Other articles of this Issue 5/2009

Arthritis Research & Therapy 5/2009 Go to the issue
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.