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Page 1
A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus.
Wang S, Adrianto I, Wiley GB, Lessard CJ, Kelly JA, Adler AJ, Glenn SB, Williams AH, Ziegler JT, Comeau ME, Marion MC, Wakeland BE, Liang C, Kaufman KM, Guthridge JM, Alarcón-Riquelme ME; BIOLUPUS and GENLES Networks; Alarcón GS, Anaya JM, Bae SC, Kim JH, Joo YB, Boackle SA, Brown EE, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, Criswell LA, Edberg JC, Freedman BI, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Martin J, Merrill JT, Niewold TB, Pons-Estel BA, Scofield RH, Stevens AM, Tsao BP, Vyse TJ, Langefeld CD, Harley JB, Wakeland EK, Moser KL, Montgomery CG, Gaffney PM. Wang S, et al. Genes Immun. 2012 Jul;13(5):380-7. doi: 10.1038/gene.2012.6. Epub 2012 Apr 5. Genes Immun. 2012. PMID: 22476155 Free PMC article.
Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort.
Alarcón-Segovia D, Alarcón-Riquelme ME, Cardiel MH, Caeiro F, Massardo L, Villa AR, Pons-Estel BA; Grupo Latinoamericano de Estudio del Lupus Eritematoso (GLADEL). Alarcón-Segovia D, et al. Arthritis Rheum. 2005 Apr;52(4):1138-47. doi: 10.1002/art.20999. Arthritis Rheum. 2005. PMID: 15818688 Free article.
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF; Argentine and Spanish Collaborative Groups; Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, Altshuler D, Behrens TW, Alarcón-Riquelme ME. Graham RR, et al. Nat Genet. 2006 May;38(5):550-5. doi: 10.1038/ng1782. Epub 2006 Apr 16. Nat Genet. 2006. PMID: 16642019
Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis.
Rueda B, Reddy MV, González-Gay MA, Balsa A, Pascual-Salcedo D, Petersson IF, Eimon A, Paira S, Scherbarth HR, Pons-Estel BA, González-Escribano MF, Alarcón-Riquelme ME, Martín J. Rueda B, et al. Arthritis Rheum. 2006 Dec;54(12):3815-9. doi: 10.1002/art.22271. Arthritis Rheum. 2006. PMID: 17133578 Free article.
No evidence of association between genetic variants of the PDCD1 ligands and SLE.
Abelson AK, Johansson CM, Kozyrev SV, Kristjansdottir H, Gunnarsson I, Svenungsson E, Jönsen A, Lima G, Scherbarth HR, Gamron S, Allievi A, Palatnik SA, Alvarellos A, Paira S, Graf C, Guillerón C, Catoggio LJ, Prigione C, Battagliotti CG, Berbotto GA, García MA, Perandones CE, Truedsson L, Steinsson K, Sturfelt G, Pons-Estel B; Argentinean Collaborative Group; Alarcón-Riquelme ME. Abelson AK, et al. Genes Immun. 2007 Jan;8(1):69-74. doi: 10.1038/sj.gene.6364360. Epub 2006 Nov 30. Genes Immun. 2007. PMID: 17136123
Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.
Kozyrev SV, Lewén S, Reddy PM, Pons-Estel B; Argentine Collaborative Group; Witte T; German Collaborative Group; Junker P, Laustrup H, Gutiérrez C, Suárez A, Francisca González-Escribano M, Martín J; Spanish Collaborative Group; Alarcón-Riquelme ME. Kozyrev SV, et al. Arthritis Rheum. 2007 Apr;56(4):1234-41. doi: 10.1002/art.22497. Arthritis Rheum. 2007. PMID: 17393452 Free article.
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Pons-Estel BA, Witte T, D'Alfonso S, Barizzone N, Danieli MG, Gutierrez C, Suarez A, Junker P, Laustrup H, González-Escribano MF, Martin J, Abderrahim H, Alarcón-Riquelme ME. Kozyrev SV, et al. Nat Genet. 2008 Feb;40(2):211-6. doi: 10.1038/ng.79. Epub 2008 Jan 20. Nat Genet. 2008. PMID: 18204447
Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus.
Seldin MF, Qi L, Scherbarth HR, Tian C, Ransom M, Silva G, Belmont JW, Gamron S, Allievi A, Palatnik SA, Saurit V, Paira S, Graf C, Guillerón C, Catoggio LJ, Prigione C, Berbotto GA, García MA, Perandones CE, Truedsson L, Abderrahim H, Battagliotti CG, Pons-Estel BA, Alarcon-Riquelme ME. Seldin MF, et al. Genes Immun. 2008 Jun;9(4):389-93. doi: 10.1038/gene.2008.25. Epub 2008 Apr 10. Genes Immun. 2008. PMID: 18401351
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus.
Orrú V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, Hartiala J, Zhao L, Ortego-Centeno N, D'Alfonso S; Italian Collaborative Group; Arnett FC, Wu H, Gonzalez-Gay MA, Tsao BP, Pons-Estel B, Alarcon-Riquelme ME, He Y, Zhang ZY, Allayee H, Chen XS, Martin J, Bottini N. Orrú V, et al. Hum Mol Genet. 2009 Feb 1;18(3):569-79. doi: 10.1093/hmg/ddn363. Epub 2008 Nov 3. Hum Mol Genet. 2009. PMID: 18981062 Free PMC article.
STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk.
Abelson AK, Delgado-Vega AM, Kozyrev SV, Sánchez E, Velázquez-Cruz R, Eriksson N, Wojcik J, Linga Reddy MV, Lima G, D'Alfonso S, Migliaresi S, Baca V, Orozco L, Witte T, Ortego-Centeno N; AADEA group; Abderrahim H, Pons-Estel BA, Gutiérrez C, Suárez A, González-Escribano MF, Martin J, Alarcón-Riquelme ME. Abelson AK, et al. Ann Rheum Dis. 2009 Nov;68(11):1746-53. doi: 10.1136/ard.2008.097642. Epub 2008 Nov 19. Ann Rheum Dis. 2009. PMID: 19019891 Free PMC article.
166 results