Genetics of autoimmunity: An update

Immunology Letters

Volumn 158, Issue 1-2, 2014, Pages 116-119

  Sorrentino, Rosa ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Autoimmunity; Genetics; Polymorphisms

Indexed keywords

HLA B27 ANTIGEN;

ADAPTIVE IMMUNITY; AFF3 GENE; ALLELE; ANKYLOSING SPONDYLITIS; AUTOIMMUNITY; BEHCET DISEASE; BONE MARROW CELL; CD8+ T LYMPHOCYTE; CELIAC DISEASE; CTLA4 GENE; ERAP1 GENE; GENE; GENE INTERACTION; GENE SILENCING; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RISK; GENETIC VARIABILITY; GRAVES DISEASE; HUMAN; IKB ZETA GENE; IL 12R GENE; IL 23R GENE; IL12A GENE; IMMUNOGENETICS; IMMUNOPATHOGENESIS; INFLAMMATORY BOWEL DISEASE; IRF 5 GENE; IRF5 TNPO3 GENE; MEMORY CELL; MULTIPLE SCLEROSIS; NONHUMAN; PAD14 GENE; PRIMARY BILIARY CIRRHOSIS; PRIORITY JOURNAL; PSORIASIS; PTPN22 GENE; REGULATORY T LYMPHOCYTE; REVIEW; RHEUMATOID ARTHRITIS; SJOEGREN SYNDROME; STAT3 GENE; STAT4 GENE; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC SCLEROSIS; TARGET ORGAN; THEMIS GENE; THYMUS FUNCTION; TRAF1 C5 GENE; TYK2 GENE; ANIMAL; AUTOIMMUNE DISEASE; GENE EXPRESSION REGULATION; GENETIC EPIGENESIS; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE ENVIRONMENT INTERACTION; IMMUNOLOGY; QUANTITATIVE TRAIT;

ANIMALS; AUTOIMMUNE DISEASES; AUTOIMMUNITY; EPIGENESIS, GENETIC; GENE EXPRESSION REGULATION; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MYELOID CELLS; POLYMORPHISM, GENETIC; QUANTITATIVE TRAIT, HERITABLE;

EID: 84892502190     PISSN: 01652478     EISSN: 18790542     Source Type: Journal    
DOI: 10.1016/j.imlet.2013.12.005     Document Type: Review

References (30)

1. Maher B. Personal genomes: the case of the missing heritability. Nature 2008, 456:18-21.
2. Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J., et al. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
3. Dickson S.P., Wang K., Krantz I., Hakonarson H., Goldstein D.B. Rare variants create synthetic genome-wide associations. PLoS Biol 2010, 8:e1000294.
4. Zuk O., Hechter E., Sunyaev S.R., Lander E.S. The case of the missing heritability: genetics interactions create phantom heritability. Proc Natl Acad Sci USA 2012, 109:1193-1198.
5. Hemani G., Knott S., Haley C. An evolutionary perspective on epistasis and the missing heritability. PLoS Genet 2013, 9:e1003295.
6. Parkes M., Cortes A., van Heel D.A., Brown M. Genetic insights into common pathways and complex relationships among immune-mediated diseases. Nat Rev Genet 2013, 14:661-673.
7. Fernando M.M., Stevens C.R., Walsh E.C., De Jager P.L., Goyette P., Plenge R.M., et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet 2008, 4:e1000024.
8. Sorrentino R., Böckmann R.A., Fiorillo M.T. HLA-B27 and antigen presentation: at the crossroads between immune defense and autoimmunity. Mol Immunol 2014, 57:22-27.
9. Evans D.M., Spencer C.C., Pointon J.J., Su Z., Harvey D., Kochan G., et al. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 2011, 43:761-767.
10. Kirino Y., Bertsias G., Ishigatsubo Y., Mizuki N., Tugal-Tutkun I., Seyahi E., et al. Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1. Nat Genet 2013, 45:202-207.
11. Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2, Strange A., Capon F., Spencer C.C., Knight J., Weale M.E., et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010, 42:985-990.
12. Hirschfield G.M., Liu X., Han Y., Gorlov I.P., Lu Y., Xu C., et al. Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. Nat Genet 2010, 42:655-657.
13. Liu X., Invernizzi P., Lu Y., Kosoy R., Lu Y., Bianchi I., et al. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. Nat Genet 2010, 42:658-660.
14. Miceli-Richard C., Gestermann N., Ittah M., Comets E., Loiseau P., Puechal X., et al. The CGGGG insertion/deletion polymorphism of the IRF5 promoter is a strong risk factor for primary Sjögren's syndrome. Arthritis Rheum 2009, 60(6):1991-1997.
15. Kozyrev S.V., Lewén S., Reddy P.M., Pons-Estel B., Argentine Collaborative Group, Witte T., et al. Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus. Arthritis Rheum 2007, 56:1234-1241.
16. Graham R.R., Kozyrev S.V., Baechler E.C., Reddy M.V., Plenge R.M., Bauer J.W., et al. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet 2006, 38:550-555.
17. Carmona F.D., Martin J.E., Beretta L., Simeón C.P., Carreira P.E. The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis. PLoS ONE 2013, 8:e54419.
18. Stone R.C., Du P., Feng D., Dhawan K., Rönnblom L. RNA-Seq for enrichment and analysis of IRF5 transcript expression in SLE. PLoS ONE 2013, 8:e54487.
19. Dieudé P., Guedj M., Wipff J., Avouac J., Fajardy I. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum 2009, 60:225-233.
20. Fossati-Jimack L., Ling G.S., Cortini A., Szajna M., Malik T.H. Phagocytosis is the main CR3-mediated function affected by the lupus-associated variant of CD11b in human myeloid cells. PLoS ONE 2013, 8:e57082.
21. International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley J.B., Alarcón-Riquelme M.E., Criswell L.A., Jacob C.O., Kimberly R.P., et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008, 40:204-210.
22. Wills Q.F., Livak K.J., Tipping A.J., Enver T., Goldson A.J., Sexton D.V. Single-cell gene expression analysis reveals genetic associations masked in whole-tissue experiments. Nat Biotechnol 2013, 31:748-752.
23. Okuma A., Hoshino K., Ohba T., Fukushi S., AibaS., Akira S., et al. Enhanced apoptosis by disruption of the STAT3-IκB-ζ signaling pathway in epithelial cells induces Sjögren's syndrome-like autoimmune disease. Immunity 2013, 38:450-460.
24. Brendecke S.M., Prinz M. IκB-ζ deficiency leaves epithelial cells high and dry. Immunity 2013, 38:404-406.
25. Paster W., Brockmeyer C., Fu G., Simister P.C., de Wet B., Martinez-Riaño A., et al. GRB2-mediated recruitment of THEMIS to LAT is essential for thymocyte development. J Immunol 2013, 190:3749-3756.
26. Chabod M., Pedros C., Lamouroux L., Colacios C., Bernard I., Lagrange D., et al. A spontaneous mutation of the rat Themis gene leads to impaired function of regulatory T cells linked to inflammatory bowel disease. PLoS Genet 2012, 8:e1002461.
27. Lees C.W., Barrett J.C., Parkes M., Satsangi J. New IBD genetics: common pathways with other diseases. Gut 2011, 60:1739-1753.
28. Burn G.L., Svensson L., Sanchez-Blanco C., Saini M., Cope A.P. Why is PTPN22 a good candidate susceptibility gene for autoimmune disease?. FEBS Lett 2011, 585:3689-3698.
29. Song G.G., Kim J.H., Kim Y.H., Lee Y.H. Association between CTLA-4 polymorphisms and susceptibility to celiac disease: a meta analysis. Hum Immunol 2013, 74:1214-1218.
30. Ueda H., Howson J.M., Esposito L., Heward J., Snook X., Chamberlain G., et al. Association of the T regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003, 423:506-511.