Confirmation of TNIP1 and IL23A as susceptibility loci for psoriatic arthritis

被引:98
作者
Bowes, John [1 ]
Orozco, Gisela [1 ]
Flynn, Edward [1 ]
Ho, Pauline [1 ,2 ]
Brier, Rasha [1 ]
Marzo-Ortega, Helena [3 ]
Coates, Laura [3 ]
McManus, Ross [4 ]
Ryan, Anthony W. [4 ]
Kane, David [5 ]
Korendowych, Eleanor [6 ,7 ]
McHugh, Neil [6 ,7 ]
FitzGerald, Oliver [8 ,9 ]
Packham, Jonathan [10 ,11 ]
Morgan, Ann W. [3 ]
Bruce, Ian N. [1 ,2 ]
Barton, Anne [1 ,2 ]
机构
[1] Univ Manchester, Arthrit Res UK, Manchester Acad Hlth Sci Ctr, Epidemiol Unit, Manchester, Lancs, England
[2] Cent Manchester Fdn Trust, NIHR Manchester Biomed Res Ctr, Kellgren Ctr Rheumatol, Manchester, Lancs, England
[3] Univ Leeds, Leeds Inst Mol Med, NIHR Leeds Musculoskeletal Biomed Res Unit, Leeds, W Yorkshire, England
[4] Trinity Coll Dublin, Inst Mol Med, Dept Clin Med, Dublin, Ireland
[5] Adelaide & Meath Hosp, Dublin, Ireland
[6] Royal Natl Hosp Rheumat Dis, Bath BA1 1RL, Avon, England
[7] Univ Bath, Dept Pharm & Pharmacol, Bath BA2 7AY, Avon, England
[8] St Vincents Univ Hosp, UCD Sch Med & Med Sci, Dept Rheumatol, Dublin 4, Ireland
[9] Univ Coll Dublin, Conway Inst Biomol & Biomed Res, Dublin 2, Ireland
[10] Haywood Hosp, Stoke On Trent, Staffs, England
[11] Univ Keele, Arthrit Res UK Primary Care Ctr, Keele ST5 5BG, Staffs, England
基金
英国惠康基金;
关键词
GENOME-WIDE ASSOCIATION; GENETIC-VARIANTS; POLYMORPHISMS; POPULATION; TRAF3IP2; PATHWAYS; VULGARIS; LINKAGE; DISEASE;
D O I
10.1136/ard.2011.150102
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objectives To investigate a shared genetic aetiology for skin involvement in psoriasis and psoriatic arthritis (PsA) by genotyping single-nucleotide polymorphisms (SNPs), reported to be associated in genome-wide association studies of psoriasis, in patients with PsA. Methods SNPs with reported evidence for association with psoriasis were genotyped in a PsA case and control collection from the UK and Ireland. Genotype and allele frequencies were compared between PsA cases and controls using the Armitage test for trend. Results Seven SNPs mapping to the IL1RN, TNIP1, TNFAIP3, TSC1, IL23A, SMARCA4 and RNF114 genes were successfully genotyped. The IL23A and TNIP1 genes showed convincing evidence for association (rs2066808, p = 9.1 x 10(-7); rs17728338, p = 3.5 x 10(-5), respectively) whilst SNPs mapping to the TNFAIP3, TSC1 and RNF114 genes showed nominal evidence for association (rs610604, p = 0.03; rs1076160, p = 0.03; rs495337, p = 0.0025). No evidence for association with IL1RN or SMARCA4 was found but the power to detect association was low. Conclusions SNPs mapping to previously reported psoriasis loci show evidence for association to PSA, thus supporting the hypothesis that the genetic aetiology of skin involvement is the same in both PsA and psoriasis.
引用
收藏
页码:1641 / 1644
页数:4
相关论文
共 23 条
[1]   Tumour necrosis factor-α polymorphism and the HLA-Cw*0602 allele in psoriatic arthritis [J].
Al-Heresh, AM ;
Proctor, J ;
Jones, SM ;
Dixey, J ;
Cox, B ;
Welsh, K ;
McHugh, N .
RHEUMATOLOGY, 2002, 41 (05) :525-530
[2]   Cytokine gene polymorphisms - Association with psorlatic arthritis susceptibility and severity [J].
Balding, J ;
Kane, D ;
Livingstone, W ;
Mynett-Johnson, L ;
Bresnihan, B ;
Smith, O ;
FitzGerald, O .
ARTHRITIS AND RHEUMATISM, 2003, 48 (05) :1408-1413
[3]   Evidence to support IL-13 as a risk locus for psoriatic arthritis but not psoriasis vulgaris [J].
Bowes, John ;
Eyre, Steve ;
Flynn, Edward ;
Ho, Pauline ;
Salah, Salma ;
Warren, Richard B. ;
Marzo-Ortega, Helena ;
Coates, Laura ;
McManus, Ross ;
Ryan, Anthony W. ;
Kane, David ;
Korendowych, Eleanor ;
McHugh, Neil ;
FitzGerald, Oliver ;
Packham, Jonathan ;
Morgan, Ann W. ;
Griffiths, Christopher E. M. ;
Bruce, Ian N. ;
Worthington, Jane ;
Barton, Anne .
ANNALS OF THE RHEUMATIC DISEASES, 2011, 70 (06) :1016-1019
[4]   Variants in linkage disequilibrium with the late cornified envelope gene cluster deletion are associated with susceptibility to psoriatic arthritis [J].
Bowes, John ;
Flynn, Edward ;
Ho, Pauline ;
Aly, Batool ;
Morgan, Ann W. ;
Marzo-Ortega, Helena ;
Coates, Laura ;
McManus, Ross ;
Ryan, Anthony W. ;
Kane, David ;
Korendowych, Eleanor ;
McHugh, Neil ;
FitzGerald, Oliver ;
Packham, Jonathan ;
Bruce, Ian N. ;
Barton, Anne .
ANNALS OF THE RHEUMATIC DISEASES, 2010, 69 (12) :2199-2203
[5]   Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene [J].
Capon, Francesca ;
Bijlmakers, Marie-Jose ;
Wolf, Natalie ;
Quaranta, Maria ;
Huffmeier, Ulrike ;
Allen, Michael ;
Timms, Kirsten ;
Abkevich, Victor ;
Gutin, Alexander ;
Smith, Rhodri ;
Warren, Richard B. ;
Young, Helen S. ;
Worthington, Jane ;
Burden, A. David ;
Griffiths, Christopher E. M. ;
Hayday, Adrian ;
Nestle, Frank O. ;
Reis, Andre ;
Lanchbury, Jerry ;
Barker, Jonathan N. ;
Trembath, Richard C. .
HUMAN MOLECULAR GENETICS, 2008, 17 (13) :1938-1945
[6]   Association between IL13 Polymorphisms and Psoriatic Arthritis Is Modified by Smoking [J].
Duffin, Kristina Callis ;
Freeny, Ingrid C. ;
Schrodi, Steven J. ;
Wong, Bob ;
Feng, Bing-Jian ;
Soltani-Arabshahi, Razieh ;
Rakkhit, Tina ;
Goldgar, David E. ;
Krueger, Gerald G. .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (12) :2777-2783
[7]   Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2 [J].
Ellinghaus, Eva ;
Ellinghaus, David ;
Stuart, Philip E. ;
Nair, Rajan P. ;
Debrus, Sophie ;
Raelson, John V. ;
Belouchi, Majid ;
Fournier, Helene ;
Reinhard, Claudia ;
Ding, Jun ;
Li, Yun ;
Tejasvi, Trilokraj ;
Gudjonsson, Johann ;
Stoll, Stefan W. ;
Voorhees, John J. ;
Lambert, Sylviane ;
Weidinger, Stephan ;
Eberlein, Bernadette ;
Kunz, Manfred ;
Rahman, Proton ;
Gladman, Dafna D. ;
Gieger, Christian ;
Wichmann, H. Erich ;
Karlsen, Tom H. ;
Mayr, Gabriele ;
Albrecht, Mario ;
Kabelitz, Dieter ;
Mrowietz, Ulrich ;
Abecasis, Goncalo R. ;
Elder, James T. ;
Schreiber, Stefan ;
Weichenthal, Michael ;
Franke, Andre .
NATURE GENETICS, 2010, 42 (11) :991-U113
[8]   Investigation of Association of the IL12B and IL23R Genes With Psoriatic Arthritis [J].
Filer, Charlotte ;
Ho, Pauline ;
Smith, Rhodri L. ;
Griffiths, Christopher ;
Young, Helen S. ;
Worthington, Jane ;
Bruce, Ian N. ;
Barton, Anne .
ARTHRITIS AND RHEUMATISM, 2008, 58 (12) :3705-3709
[9]   Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis [J].
Ho, P ;
Bruce, IN ;
Silman, A ;
Symmons, D ;
Newman, B ;
Young, H ;
Griffiths, CEM ;
John, S ;
Worthington, J ;
Barton, A .
ARTHRITIS AND RHEUMATISM, 2005, 52 (11) :3596-3602
[10]   Investigating the role of the HLA-Cw*06 and HLA-DRB1 genes in susceptibility to psoriatic arthritis:: comparison with psoriasis and undifferentiated inflammatory arthritis [J].
Ho, P. Y. P. C. ;
Barton, A. ;
Worthington, J. ;
Plant, D. ;
Griffiths, C. E. M. ;
Young, H. S. ;
Bradburn, P. ;
Thomson, W. ;
Silman, A. J. ;
Bruce, I. N. .
ANNALS OF THE RHEUMATIC DISEASES, 2008, 67 (05) :677-682