Genetic association studies in ANCA-associated vasculitides: What we have learnt so far and what needs to be done in the future

Clinical and Experimental Rheumatology

Volumn 28, Issue 1 SUPPL. 57, 2010, Pages

  Holle, Julia U ^a   Wieczorek, Stefan ^b   Gross, Wolfgang L ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

ANCA associated vasculitides; Candidate gene approach; Genetic association studies; Genome wide association study

Indexed keywords

HLA DPB1 ANTIGEN; INTERFERON REGULATORY FACTOR 5; INTERLEUKIN 10; INTERLEUKIN 2 RECEPTOR ALPHA; MYELOBLASTIN; MYELOPEROXIDASE; NEUTROPHIL CYTOPLASMIC ANTIBODY; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; AUTOANTIBODY;

ANCA ASSOCIATED VASCULITIS; CHURG STRAUSS SYNDROME; EDITORIAL; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; HAPLOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; WEGENER GRANULOMATOSIS; ALLELE; AUTOIMMUNE DISEASE; CD18 GENE; CD226 GENE; CTLA4 GENE; GENETIC PREDISPOSITION; GENETICS; HLA DPB GENE; HLA DPB1 GENE; HLA DPB3 GENE; HLA DPB4 GENE; HLA GENE; IL10 GENE; IL2RA GENE; IRF5 GENE; PATHOGENESIS; PATHOPHYSIOLOGY; PTPN22 GENE; RISK FACTOR;

ANTI-NEUTROPHIL CYTOPLASMIC ANTIBODY-ASSOCIATED VASCULITIS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; RISK FACTORS;

EID: 77954593405     PISSN: 0392856X     EISSN: 1593098X     Source Type: Journal    
DOI: None     Document Type: Editorial

References (30)

1. ISHIHARA S, AZIZ MM, YUKI T, KAZUMORI H, KINOSHITA Y: Inflammatory bowel disease: review from the aspect of genetics. J Gastroenterol 2009; 44: 1097-108.
2. WALTON EW, LEGGAT PO: Wegener's granulomatosis. J Clin Pathol 1956; 9: 31-7.
3. CARRINGTON CB, LIEBOW AA: Limited form of angiitis and granulomatosis of Wegener's type. Am J Med 1966; 41: 497-527
4. REINHOLD-KELLER E, BEUGE N, LATZA U et al.: An interdisciplinary approach to the care of patients with Wegener's granulomatosis: long-term outcome in 155 patients. Arthritis Rheum 2000; 43: 1021-32.
5. PAGNOUX C, GUILLEVIN L: Churg-Strauss syndrome: evidence for disease subtypes? Curr Opin Rheumatol 2010; 22: 21-8.
6. FRIES JF, HUNDER GG, BLOCH DA et al.: The American College of Rheumatology 1990 criteria for the classification of vasculitis. Summary. Arthritis Rheum 1990; 33: 1135-6.
7. JENNETTE JC, FALK RJ, ANDRASSY K et al.: Nomenclature of systemic vasculitides. Proposal of an international consensus conference. Arthritis Rheum 1994; 37: 187-92.
8. JAGIELLO P, GENCIK M, ARNING L et al.: New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes. Hum Genet 2004; 114: 468-77.
9. HECKMANN M, HOLLE JU, ARNING L et al.: The Wegener's granulomatosis quantative trait locus on chromosome 6p21.3 as characterized by tagSNP genotyping. Ann Rheum Dis 2008; 67: 972-9.
10. JAGIELLO P, ARIES P, ARNING L et al.: The PTPN22 620W allele is a risk factor for Wegener's granulomatosis. Arthritis Rheum 2005; 12: 4039-43.
11. ESNAULT VL, TESTA A, AUDRIAN M et al.: Alpha 1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis. Kidney Int 1993; 43: 1329-32.
12. MAHR AD, EDBERG J. STONE J et al.: Alpha 1-antitrypsin deficiency and the risk for Wegener's granulomatosis. In: Proceedings of the 14th International Vasculitis and ANCA Workshop. APMIS 2009; 117 (Suppl. 127): 157 [abstract n. 1].
13. ASSMANN G, WIECZOREK S, WIBISONO D et al.: The p53 G72C and NDM2 T309 single nucleotide polymorphisms in patients with Wegener's granulomatosis. Clin Exp Rheumatol 2008; 26 (Suppl, 49): S72-75.
14. GENCIK M, BORGMANN S, ZAHN R et al.: Immunogenetic risk factors for anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitis. Clin Exp Immunol 1999; 117: 412-7
15. SPRIEWALD BM, WITZKE O, WASSMUTH R et al.: Distinct tumour necrosis factor alpha, interferon gamma, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener's granulomatosis. Ann Rheum Dis 2005; 64: 457-61.
16. WIECZOREK S, HELLMICH B, GROSS WL et al.: Associations of the Churg-Strauss syndrome with the HLA-DRB1 locus, and relationship to the genetics of anti-neutrophil cytoplasmic antibody-associated vasculitides: comment on the article by Vaglio et al. Arthritis Rheum 2008; 58: 1839-48.
17. SZODORAY P, SZABO Z, KAPITÁNY A et al.: Anti-citrullianted protein/peptide autoantibodies in association with genetic and environmental factors as indicators of disease outcome in rheumatoid arthritis. Autoimm Rev 2010; 9: 140-3. [Epub May 7 2009].
18. CARR EJ, NIEDERER HA, WILLIAMS J et al.: Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. BMC Med Genet 2009; 10: 121.
19. WIECZOREK S, HOLLE JU, MÜLLER S, FRICKE H, GROSS WL, EPPLEN JT: A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. J Mol Med 2010 Jan 5 [Epub ahead of print]
20. STASSEN PM, COHEN-TERVAERT JW, LEEMSP SP et al.: HLA-DR4, DR 13(6) and the ancestral haplotype A1 B8DR3 are associated with ANCA-associated vasculitis and Wegener's granulomatosis. Rheumatology 2009; 48: 622-5.
21. WIECZOREK S, HOLLEJU, EPPLEN JT: Recent progress in the genetics of Wegener's granulomatosis and Churg-Strauss syndrome. Curr Opin Rheumatol 1020; 22: 8-14.
22. VAGLlO A, MARTORANA D, MAGGIORE U et al.: HLA-DRB4 as a genetic risk factor for Churg-Strauss syndrome. Arthritis Rheum 2007;56:3159-66.
23. WIECZOREK S, HELLMICH B, ARNING L et al.: Functionally relevant variations of the interleukin-10 gene associated with anti-neutrophil cytoplasmic antibody-negative Churg-Strauss syndrome. Arthritis Rheum 2008; 58: 1839-48.
24. CARR EJ, CLATWORTHY MR, LOWE CE et al.: Contrasting genetic association of IL2RA with SLE and ANCA-associated vasculitis. BMC Med Genet 2009; 10: 22
25. WIECZOREK S, HOFFJAN S, CHAN A et al.: Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients. Genes Immun 2009; 10: 591-5.
26. HUANG D, GISCOMBE R, ZHOU Y, LEFVERT AK: Polymorphisms in CTLA-4 but not tumor necrosis factor-alpha or interleukin 1beta genes are associated with Wegener's granulomatosis. J Rheumatol 2000; 27: 397-401.
27. ZHOU Y, HUANG D, PARIS PL et al.: An analysis of CTLA-4 and proinflammatory cytokine genes in Wegener's ranulomatosis. Arthritis Rheum 2004; 50: 2645-50.
28. SPRIEWALD BM, WITZKE O, WASSMUTH R et al.: Distinct tumour necrosis factor alpha, interferon gamma, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener's granulomatosis. Ann Rheum Dis 2005; 64: 457-61.
29. GISCOMBE R, WANG X, HUANG D, LEFVERT AK: Coding sequence 1 and promoter single nucleotide polymorphisms in the CTLA-4 gene in Wegener's granulomatosis. J Rheumatol 2002; 29: 950-3.
30. SLOT MC, SOKOLOWSKA MG, SAVELKOULS KG et al.: Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis. Clin Immunol 2008; 128: 39-45.