메뉴 건너뛰기




Volumn 11, Issue 4, 2012, Pages 267-275

The genomics of autoimmune disease in the era of genome-wide association studies and beyond

Author keywords

Autoimmune disease; Genetics; Genome wide association study; Genomics

Indexed keywords

INTERFERON REGULATORY FACTOR 5; TRANSCRIPTOME;

EID: 84857037947     PISSN: 15689972     EISSN: 18730183     Source Type: Journal    
DOI: 10.1016/j.autrev.2011.10.003     Document Type: Review
Times cited : (57)

References (40)
  • 4
    • 33750987918 scopus 로고    scopus 로고
    • Autoimmune disease aggregation in families with primary Sjogren's syndrome
    • Anaya J.M., Tobon G.J., Vega P., Castiblanco J. Autoimmune disease aggregation in families with primary Sjogren's syndrome. J Rheumatol 2006, 33:2227-2234.
    • (2006) J Rheumatol , vol.33 , pp. 2227-2234
    • Anaya, J.M.1    Tobon, G.J.2    Vega, P.3    Castiblanco, J.4
  • 5
    • 77953289232 scopus 로고    scopus 로고
    • Autoimmune diseases and autoantibodies in the first degree relatives of patients with systemic sclerosis
    • Arora-Singh R.K., Assassi S., del Junco D.J., Arnett F.C., Perry M., Irfan U., et al. Autoimmune diseases and autoantibodies in the first degree relatives of patients with systemic sclerosis. J Autoimmun 2010, 35:52-57.
    • (2010) J Autoimmun , vol.35 , pp. 52-57
    • Arora-Singh, R.K.1    Assassi, S.2    del Junco, D.J.3    Arnett, F.C.4    Perry, M.5    Irfan, U.6
  • 6
    • 0033021206 scopus 로고    scopus 로고
    • Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree
    • Sestak A.L., Shaver T.S., Moser K.L., Neas B.R., Harley J.B. Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree. J Rheumatol 1999, 26:1495-1499.
    • (1999) J Rheumatol , vol.26 , pp. 1495-1499
    • Sestak, A.L.1    Shaver, T.S.2    Moser, K.L.3    Neas, B.R.4    Harley, J.B.5
  • 7
    • 0029982537 scopus 로고    scopus 로고
    • Genetic analysis of autoimmune disease
    • Vyse T.J., Todd J.A. Genetic analysis of autoimmune disease. Cell 1996, 85:311-318.
    • (1996) Cell , vol.85 , pp. 311-318
    • Vyse, T.J.1    Todd, J.A.2
  • 8
  • 9
    • 71049151951 scopus 로고    scopus 로고
    • Parasitic infection and autoimmunity
    • Zandman-Goddard G., Shoenfeld Y. Parasitic infection and autoimmunity. Lupus 2009, 18:1144-1148.
    • (2009) Lupus , vol.18 , pp. 1144-1148
    • Zandman-Goddard, G.1    Shoenfeld, Y.2
  • 10
    • 71049146066 scopus 로고    scopus 로고
    • Cross-talk of the environment with the host genome and the immune system through endogenous retroviruses in systemic lupus erythematosus
    • Blank M., Shoenfeld Y., Perl A. Cross-talk of the environment with the host genome and the immune system through endogenous retroviruses in systemic lupus erythematosus. Lupus 2009, 18:1136-1143.
    • (2009) Lupus , vol.18 , pp. 1136-1143
    • Blank, M.1    Shoenfeld, Y.2    Perl, A.3
  • 13
    • 12144291502 scopus 로고    scopus 로고
    • A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
    • Bottini N., Musumeci L., Alonso A., Rahmouni S., Nika K., Rostamkhani M., et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004, 36:337-338.
    • (2004) Nat Genet , vol.36 , pp. 337-338
    • Bottini, N.1    Musumeci, L.2    Alonso, A.3    Rahmouni, S.4    Nika, K.5    Rostamkhani, M.6
  • 14
    • 20144387851 scopus 로고    scopus 로고
    • Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes
    • Criswell L.A., Pfeiffer K.A., Lum R.F., Gonzales B., Novitzke J., Kern M., et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005, 76:561-571.
    • (2005) Am J Hum Genet , vol.76 , pp. 561-571
    • Criswell, L.A.1    Pfeiffer, K.A.2    Lum, R.F.3    Gonzales, B.4    Novitzke, J.5    Kern, M.6
  • 15
    • 28444469783 scopus 로고    scopus 로고
    • Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
    • Vang T., Congia M., Macis M.D., Musumeci L., Orru V., Zavattari P., et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005, 37:1317-1319.
    • (2005) Nat Genet , vol.37 , pp. 1317-1319
    • Vang, T.1    Congia, M.2    Macis, M.D.3    Musumeci, L.4    Orru, V.5    Zavattari, P.6
  • 16
    • 13844292408 scopus 로고    scopus 로고
    • Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus
    • Sigurdsson S., Nordmark G., Goring H.H., Lindroos K., Wiman A.C., Sturfelt G., et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005, 76:528-537.
    • (2005) Am J Hum Genet , vol.76 , pp. 528-537
    • Sigurdsson, S.1    Nordmark, G.2    Goring, H.H.3    Lindroos, K.4    Wiman, A.C.5    Sturfelt, G.6
  • 17
    • 34249860408 scopus 로고    scopus 로고
    • Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus
    • Graham R.R., Kyogoku C., Sigurdsson S., Vlasova I.A., Davies L.R., Baechler E.C., et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci USA 2007, 104:6758-6763.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 6758-6763
    • Graham, R.R.1    Kyogoku, C.2    Sigurdsson, S.3    Vlasova, I.A.4    Davies, L.R.5    Baechler, E.C.6
  • 18
    • 50849101942 scopus 로고    scopus 로고
    • A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
    • Sigurdsson S., Nordmark G., Garnier S., Grundberg E., Kwan T., Nilsson O., et al. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Hum Mol Genet 2008, 17:2868-2876.
    • (2008) Hum Mol Genet , vol.17 , pp. 2868-2876
    • Sigurdsson, S.1    Nordmark, G.2    Garnier, S.3    Grundberg, E.4    Kwan, T.5    Nilsson, O.6
  • 20
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • Risch N., Merikangas K. The future of genetic studies of complex human diseases. Science 1996, 273:1516-1517.
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 21
    • 70449470314 scopus 로고    scopus 로고
    • The genetics of autoimmune diseases: a networked perspective
    • Baranzini S.E. The genetics of autoimmune diseases: a networked perspective. Curr Opin Immunol 2009, 21:596-605.
    • (2009) Curr Opin Immunol , vol.21 , pp. 596-605
    • Baranzini, S.E.1
  • 22
    • 78650862201 scopus 로고    scopus 로고
    • Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study
    • Lessard C.J., Adrianto I., Kelly J.A., Kaufman K.M., Grundahl K.M., Adler A., et al. Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study. Am J Hum Genet 2011, 88:83-91.
    • (2011) Am J Hum Genet , vol.88 , pp. 83-91
    • Lessard, C.J.1    Adrianto, I.2    Kelly, J.A.3    Kaufman, K.M.4    Grundahl, K.M.5    Adler, A.6
  • 23
    • 36549003138 scopus 로고    scopus 로고
    • Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
    • Plenge R.M., Cotsapas C., Davies L., Price A.L., de Bakker P.I., Maller J., et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007, 39:1477-1482.
    • (2007) Nat Genet , vol.39 , pp. 1477-1482
    • Plenge, R.M.1    Cotsapas, C.2    Davies, L.3    Price, A.L.4    de Bakker, P.I.5    Maller, J.6
  • 24
    • 50449111452 scopus 로고    scopus 로고
    • Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
    • Graham R.R., Cotsapas C., Davies L., Hackett R., Lessard C.J., Leon J.M., et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008, 40:1059-1061.
    • (2008) Nat Genet , vol.40 , pp. 1059-1061
    • Graham, R.R.1    Cotsapas, C.2    Davies, L.3    Hackett, R.4    Lessard, C.J.5    Leon, J.M.6
  • 25
    • 59149106117 scopus 로고    scopus 로고
    • Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways
    • Nair R.P., Duffin K.C., Helms C., Ding J., Stuart P.E., Goldgar D., et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 2009, 41:199-204.
    • (2009) Nat Genet , vol.41 , pp. 199-204
    • Nair, R.P.1    Duffin, K.C.2    Helms, C.3    Ding, J.4    Stuart, P.E.5    Goldgar, D.6
  • 26
    • 67849116005 scopus 로고    scopus 로고
    • Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations
    • Bates J.S., Lessard C.J., Leon J.M., Nguyen T., Battiest L.J., Rodgers J., et al. Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations. Genes Immun 2009, 10:470-477.
    • (2009) Genes Immun , vol.10 , pp. 470-477
    • Bates, J.S.1    Lessard, C.J.2    Leon, J.M.3    Nguyen, T.4    Battiest, L.J.5    Rodgers, J.6
  • 27
    • 79952192654 scopus 로고    scopus 로고
    • Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
    • Adrianto I., Wen F., Templeton A., Wiley G., King J.B., Lessard C.J., et al. Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus. Nat Genet 2011, 43:253-258.
    • (2011) Nat Genet , vol.43 , pp. 253-258
    • Adrianto, I.1    Wen, F.2    Templeton, A.3    Wiley, G.4    King, J.B.5    Lessard, C.J.6
  • 29
    • 0035978651 scopus 로고    scopus 로고
    • Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    • Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaiche J., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001, 411:599-603.
    • (2001) Nature , vol.411 , pp. 599-603
    • Hugot, J.P.1    Chamaillard, M.2    Zouali, H.3    Lesage, S.4    Cezard, J.P.5    Belaiche, J.6
  • 30
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • Nejentsev S., Walker N., Riches D., Egholm M., Todd J.A. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009, 324:387-389.
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3    Egholm, M.4    Todd, J.A.5
  • 31
    • 42649084334 scopus 로고    scopus 로고
    • Rare independent mutations in renal salt handling genes contribute to blood pressure variation
    • Ji W., Foo J.N., O'Roak B.J., Zhao H., Larson M.G., Simon D.B., et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008, 40:592-599.
    • (2008) Nat Genet , vol.40 , pp. 592-599
    • Ji, W.1    Foo, J.N.2    O'Roak, B.J.3    Zhao, H.4    Larson, M.G.5    Simon, D.B.6
  • 32
    • 8644235804 scopus 로고    scopus 로고
    • Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
    • Fearnhead N.S., Wilding J.L., Winney B., Tonks S., Bartlett S., Bicknell D.C., et al. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci USA 2004, 101:15992-15997.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 15992-15997
    • Fearnhead, N.S.1    Wilding, J.L.2    Winney, B.3    Tonks, S.4    Bartlett, S.5    Bicknell, D.C.6
  • 33
    • 38949132672 scopus 로고    scopus 로고
    • Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis
    • Masson E., Chen J.M., Scotet V., Le Marechal C., Ferec C. Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet 2008, 123:83-91.
    • (2008) Hum Genet , vol.123 , pp. 83-91
    • Masson, E.1    Chen, J.M.2    Scotet, V.3    Le Marechal, C.4    Ferec, C.5
  • 34
    • 32444441330 scopus 로고    scopus 로고
    • Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
    • Cohen J.C., Pertsemlidis A., Fahmi S., Esmail S., Vega G.L., Grundy S.M., et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci USA 2006, 103:1810-1815.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 1810-1815
    • Cohen, J.C.1    Pertsemlidis, A.2    Fahmi, S.3    Esmail, S.4    Vega, G.L.5    Grundy, S.M.6
  • 35
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Wellcome Trust Case Control C
    • Wellcome Trust Case Control C Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678.
    • (2007) Nature , vol.447 , pp. 661-678
  • 38
    • 0020629812 scopus 로고
    • Ethnic difference in the prevalence of systemic lupus erythematosus
    • Hart H.H., Grigor R.R., Caughey D.E. Ethnic difference in the prevalence of systemic lupus erythematosus. Ann Rheum Dis 1983, 42:529-532.
    • (1983) Ann Rheum Dis , vol.42 , pp. 529-532
    • Hart, H.H.1    Grigor, R.R.2    Caughey, D.E.3
  • 39
    • 0032325243 scopus 로고    scopus 로고
    • The effect of race on incidence and clinical course in systemic lupus erythematosus: the Hopkins lupus cohort
    • Petri M. The effect of race on incidence and clinical course in systemic lupus erythematosus: the Hopkins lupus cohort. J Am Med Womens Assoc 1998, 53:9-12.
    • (1998) J Am Med Womens Assoc , vol.53 , pp. 9-12
    • Petri, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.