Emerging patterns of genetic overlap across autoimmune disorders

Genome Medicine

Volumn 4, Issue 1, 2012, Pages

  Richard Miceli, Corinne ^a   Criswell, Lindsey A ^b  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOPOIETIN 1; ATG16 AUTOPHAGY RELATED 16 LIKE 1 PROTEIN; B LYMPHOID TYROSINE KINASE; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CYCLIN Y; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; INTERFERON CONSENSUS SEQUENCE BINDING PROTEIN; INTERFERON REGULATORY FACTOR 5; INTERLEUKIN 10; INTERLEUKIN 12P35; INTERLEUKIN 2; INTERLEUKIN 21; INTERLEUKIN 26; INTERLEUKIN 27; KINESIN FAMILY MEMBER 5A; LIM DOMAIN CONTAINING PREFERRED TRANSLOCATION MOTILITY PARTNER IN LIPOMA PROTEIN; MEMBRANE METALLOENDOPEPTIDASE LIKE 1 PROTEIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; ORM1 LIKE 3 PROTEIN; PHOSPHOLIPASE C LIKE 1 PROTEIN; PROTEIN; PROTEIN KINASE C THETA; PSEUDOURIDYLATE SYNTHASE 10; SH2B ADAPTOR PROTEIN 3; STAT3 PROTEIN; STAT4 PROTEIN; T CELL ACTIVATION RHOGTPASE ACTIVATING PROTEIN; TUMOR NECROSIS FACTOR ALPHA INDUCED PROTEIN 3; UBIQUITIN CONJUGATING ENZYME E2L3; UNCLASSIFIED DRUG; VASCULOTROPIN A;

ANKYLOSING SPONDYLITIS; AUTOIMMUNE DISEASE; AUTOIMMUNITY; CELIAC DISEASE; CHROMOSOME ABERRATION; CLINICAL FEATURE; CROHN DISEASE; ENTERITIS; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HASHIMOTO DISEASE; HEREDITY; HUMAN; IMMUNOPATHOGENESIS; INSULIN DEPENDENT DIABETES MELLITUS; JUVENILE RHEUMATOID ARTHRITIS; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; REVIEW; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPONDYLOARTHROPATHY; SYSTEMIC LUPUS ERYTHEMATOSUS; ULCERATIVE COLITIS;

EID: 84856070217     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm305     Document Type: Review

References (45)

1. Cooper GS, Bynum ML, Somers EC. Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases. J Autoimmun 2009, 33:197-207. 10.1016/j.jaut.2009.09.008, 2783422, 19819109.
2. Rahman A, Isenberg DA. Systemic lupus erythematosus. N Engl J Med 2008, 358:929-939. 10.1056/NEJMra071297, 18305268.
3. Somers EC, Thomas SL, Smeeth L, Hall AJ. Autoimmune diseases co-occurring within individuals and within families: a systematic review. Epidemiology 2006, 17:202-217. 10.1097/01.ede.0000193605.93416.df, 16477262.
4. Michou L, Rat AC, Lasbleiz S, Bardin T, Cornelis F. Prevalence and distribution of autoimmune diseases in 368 rheumatoid arthritis families. J Rheumatol 2008, 35:790-796.
5. Barcellos LF, Kamdar BB, Ramsay PP, DeLoa C, Lincoln RR, Caillier S, Schmidt S, Haines JL, Pericak-Vance MA, Oksenberg JR, Hauser SL. Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study. Lancet Neurol 2006, 5:924-931. 10.1016/S1474-4422(06)70552-X, 17052659.
6. Alarcon-Segovia D, Alarcon-Riquelme ME, Cardiel MH, Caeiro F, Massardo L, Villa AR, Pons-Estel BA. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 2005, 52:1138-1147. 10.1002/art.20999, 15818688.
7. Anaya JM, Castiblanco J, Tobon GJ, Garcia J, Abad V, Cuervo H, Velasquez A, Angel ID, Vega P, Arango A. Familial clustering of autoimmune diseases in patients with type 1 diabetes mellitus. J Autoimmun 2006, 26:208-214. 10.1016/j.jaut.2006.01.001, 16503115.
8. Anaya JM, Tobon GJ, Vega P, Castiblanco J. Autoimmune disease aggregation in families with primary Sjogren's syndrome. J Rheumatol 2006, 33:2227-2234.
9. Prahalad S, Shear ES, Thompson SD, Giannini EH, Glass DN. Increased prevalence of familial autoimmunity in simplex and multiplex families with juvenile rheumatoid arthritis. Arthritis Rheum 2002, 46:1851-1856. 10.1002/art.10370, 12124869.
10. Sirota M, Schaub MA, Batzoglou S, Robinson WH, Butte AJ. Autoimmune disease classification by inverse association with SNP alleles. PLoS Genet 2009, 5:e1000792. 10.1371/journal.pgen.1000792, 2791168, 20041220.
11. Fernando MM, Stevens CR, Walsh EC, De Jager PL, Goyette P, Plenge RM, Vyse TJ, Rioux JD. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet 2008, 4:e1000024. 10.1371/journal.pgen.1000024, 2291482, 18437207.
12. Kristiansen OP, Larsen ZM, Pociot F. CTLA-4 in autoimmune diseases - a general susceptibility gene to autoimmunity?. Genes Immun 2000, 1:170-184. 10.1038/sj.gene.6363655, 11196709.
13. Chung SA, Criswell LA. PTPN22: its role in SLE and autoimmunity. Autoimmunity 2007, 40:582-590. 10.1080/08916930701510848, 2875134, 18075792.
14. Vereecke L, Beyaert R, van Loo G. The ubiquitin-editing enzyme A20 (TNFAIP3) is a central regulator of immunopathology. Trends Immunol 2009, 30:383-391. 10.1016/j.it.2009.05.007, 19643665.
15. Gregersen PK, Olsson LM. Recent advances in the genetics of autoimmune disease. Annu Rev Immunol 2009, 27:363-391. 10.1146/annurev.immunol.021908.132653, 2992886, 19302045.
16. Rai E, Wakeland EK. Genetic predisposition to autoimmunity - what have we learned?. Semin Immunol 2011, 23:67-83. 10.1016/j.smim.2011.01.015, 21288738.
17. Homer CR, Richmond AL, Rebert NA, Achkar JP, McDonald C. ATG16L1 and NOD2 interact in an autophagy-dependent antibacterial pathway implicated in Crohn's disease pathogenesis. Gastroenterology 2010, 139:1630-1641. 1641.e1-2, 10.1053/j.gastro.2010.07.006, 2967588, 20637199.
18. Zhernakova A, van Diemen CC, Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet 2009, 10:43-55. 10.1038/nrg2489, 19092835.
19. Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Hum Mol Genet 2008, 17:R116-121. 10.1093/hmg/ddn246, 2782355, 18852199.
20. Lees CW, Barrett JC, Parkes M, Satsangi J. New IBD genetics: common pathways with other diseases. Gut 2011, 60:1739-1753. 10.1136/gut.2009.199679, 21300624.
21. Raychaudhuri S. Recent advances in the genetics of rheumatoid arthritis. Curr Opin Rheumatol 2010, 22:109-118. 10.1097/BOR.0b013e328336474d, 3121048, 20075733.
22. Flesher DL, Sun X, Behrens TW, Graham RR, Criswell LA. Recent advances in the genetics of systemic lupus erythematosus. Expert Rev Clin Immunol 2010, 6:461-479. 10.1586/eci.10.8, 2897739, 20441431.
23. Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC, Behrens T, Cho J, De Jager PL, Elder JT, Graham RR, Gregersen P, Klareskog L, Siminovitch KA, van Heel DA, Wijmenga C, Worthington J, Todd JA, Hafler DA, Rich SS, Daly MJ, . FOCiS Network of Consortia Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet 2011, 7:e1002254. 10.1371/journal.pgen.1002254, 3154137, 21852963, FOCiS Network of Consortia.
24. Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA. Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med 2008, 359:2767-2777. 10.1056/NEJMoa0807917, 2840835, 19073967.
25. Eyre S, Hinks A, Bowes J, Flynn E, Martin P, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, , Thomson W, Worthington J, Barton A. Yorkshire Early Arthritis Consortium; Biologics in RA Control Consortium Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease. Arthritis Res Ther 2010, 12:R175. 10.1186/ar3139, 2991006, 20854658, Yorkshire Early Arthritis Consortium; Biologics in RA Control Consortium.
26. Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V, Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PM, Glessner JT, Walters T, Hou C, Kim C, Frackelton EC, Garris M, Doran J, Romano C, Catassi C, Van Limbergen J, Guthery SL, Denson L, Piccoli D, Silverberg MS, Stanley CA, Monos D, Wilson DC, Griffiths A, et al. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Hum Mol Genet 2010, 19:2059-2067. 10.1093/hmg/ddq078, 2860894, 20176734.
27. Laukens D, Georges M, Libioulle C, Sandor C, Mni M, Vander Cruyssen B, Peeters H, Elewaut D, De Vos M. Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis. PLoS One 2010, 5:e13795. 10.1371/journal.pone.0013795, 2970560, 21072187.
28. Danoy P, Pryce K, Hadler J, Bradbury LA, Farrar C, Pointon J, , Ward M, Weisman M, Reveille JD, Wordsworth BP, Stone MA, , Maksymowych WP, Rahman P, Gladman D, Inman RD, Brown MA. Australo-Anglo-American Spondyloarthritis Consortium, Spondyloarthritis Research Consortium of Canada Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease. PLoS Genet 2010, 6:e1001195. 10.1371/journal.pgen.1001195, 2996314, 21152001, Australo-Anglo-American Spondyloarthritis Consortium, Spondyloarthritis Research Consortium of Canada.
29. Festen EA, Goyette P, Green T, Boucher G, Beauchamp C, Trynka G, Dubois PC, Lagacé C, Stokkers PC, Hommes DW, Barisani D, Palmieri O, Annese V, van Heel DA, Weersma RK, Daly MJ, Wijmenga C, Rioux JD. A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 As shared risk loci for Crohn's disease and celiac disease. PLoS Genet 2011, 7:e1001283. 10.1371/journal.pgen.1001283, 3029251, 21298027.
30. Orozco G, Eyre S, Hinks A, Bowes J, Morgan AW, Wilson AG, Wordsworth P, Steer S, Hocking L, , Thomson W, Worthington J, Barton A. UKRAG consortium Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis 2011, 70:463-468. 10.1136/ard.2010.137174, 3033530, 21068098, UKRAG consortium.
31. Suarez-Gestal M, Calaza M, Dieguez-Gonzalez R, Perez-Pampin E, Pablos JL, Navarro F, Narvaez J, Marenco JL, Herrero-Beaumont G, Fernandez-Gutierrez B, Lamas JR, de la Serna AR, Ortiz AM, Carreño L, Cañete JD, Caliz R, Blanco FJ, Balsa A, Gomez-Reino JJ, Gonzalez A. Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors. Arthritis Rheum 2009, 60:2558-2564. 10.1002/art.24748, 19714582.
32. Coenen MJ, Trynka G, Heskamp S, Franke B, van Diemen CC, Smolonska J, van Leeuwen M, Brouwer E, Boezen MH, Postma DS, Platteel M, Zanen P, Lammers JW, Groen HJ, Mali WP, Mulder CJ, Tack GJ, Verbeek WH, Wolters VM, Houwen RH, Mearin ML, van Heel DA, Radstake TR, van Riel PL, Wijmenga C, Barrera P, Zhernakova A. Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum Mol Genet 2009, 18:4195-4203. 10.1093/hmg/ddp365, 19648290.
33. Thompson SD, Sudman M, Ramos PS, Marion MC, Ryan M, Tsoras M, Weiler T, Wagner M, Keddache M, Haas JP, Mueller C, Prahalad S, Bohnsack J, Wise CA, Punaro M, Zhang D, Rosé CD, Comeau ME, Divers J, Glass DN, Langefeld CD. The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1. Arthritis Rheum 2010, 62:3265-3276. 10.1002/art.27688, 2970764, 20722033.
34. Ramos PS, Criswell LA, Moser KL, Comeau ME, Williams AH, Pajewski NM, Chung SA, Graham RR, Zidovetzki R, Kelly JA, Kaufman KM, Jacob CO, Vyse TJ, Tsao BP, Kimberly RP, Gaffney PM, Alarcón-Riquelme ME, Harley JB, Langefeld CD, . for The International Consortium on the Genetics of Systemic Erythematosus (SLEGEN) A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap. PLoS Genet 7:e1002406. for The International Consortium on the Genetics of Systemic Erythematosus (SLEGEN).
35. Baranzini SE. Revealing the genetic basis of multiple sclerosis: are we there yet?. Curr Opin Genet Dev 2011, 21:317-324. 10.1016/j.gde.2010.12.006, 21247752.
36. Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez JR, Fernandez O, Cavanillas ML, Cénit MC, Arroyo R, Alloza I, García-Barcina M, Antigüedad A, Leyva L, Izquierdo G, Lucas M, Fedetz M, Pinto-Medel MJ, Olascoaga J, Blanco Y, Comabella M, Montalban X, Urcelay E, Matesanz F. The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes Immun 2010, 11:439-445. 10.1038/gene.2010.30, 20508602.
37. , Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, et al. International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 2011, 476:214-219. 10.1038/nature10251, 21833088, International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2.
38. Keystone EC, Ware CF. Tumor necrosis factor and anti-tumor necrosis factor therapies. J Rheumatol Suppl 2010, 85:27-39. 10.3899/jrheum.091463, 20436163.
39. Logan I, Bowlus CL. The geoepidemiology of autoimmune intestinal diseases. Autoimmun Rev 2010, 9:A372-A378. 10.1016/j.autrev.2009.11.008, 19903540.
40. Borchers AT, Uibo R, Gershwin ME. The geoepidemiology of type 1 diabetes. Autoimmun Rev 2010, 9:A355-A365. 10.1016/j.autrev.2009.12.003, 19969107.
41. Tobón GJ, Youinou P, Saraux A. The environment, geo-epidemiology, and autoimmune disease: rheumatoid arthritis. Autoimmun Rev 2010, 9:A288-A292. 10.1016/j.autrev.2009.11.019, 19944780.
42. Berkun Y, Padeh S. Environmental factors and the geoepidemiology of juvenile idiopathic arthritis. Autoimmun Rev 2010, 9:A319-A324. 10.1016/j.autrev.2009.11.018, 19932890.
43. Milo R, Kahana E. Multiple sclerosis: geoepidemiology, genetics and the environment. Autoimmun Rev 2010, 9:A387-A394. 10.1016/j.autrev.2009.11.010, 19932200.
44. Borchers AT, Naguwa SM, Shoenfeld Y, Gershwin ME. The geoepidemiology of systemic lupus erythematosus. Autoimmun Rev 2010, 9:A277-A287. 10.1016/j.autrev.2009.12.008, 20036343.
45. Ehrenfeld M. Geoepidemiology: the environment and spondyloarthropathies. Autoimmun Rev 2010, 9:A325-A329. 10.1016/j.autrev.2009.11.012, 20026258.