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Page 1
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.
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus.
Sánchez E, Palomino-Morales RJ, Ortego-Centeno N, Jiménez-Alonso J, González-Gay MA, López-Nevot MA, Sánchez-Román J, de Ramón E, González-Escribano MF, Pons-Estel BA, D'Alfonso S, Sebastiani GD; Italian collaborative group; Alarcón-Riquelme ME, Martín J. Sánchez E, et al. Hum Mol Genet. 2009 Oct 1;18(19):3739-48. doi: 10.1093/hmg/ddp301. Epub 2009 Jul 7. Hum Mol Genet. 2009. PMID: 19584085
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
Association of PPP2CA polymorphisms with systemic lupus erythematosus susceptibility in multiple ethnic groups.
Tan W, Sunahori K, Zhao J, Deng Y, Kaufman KM, Kelly JA, Langefeld CD, Williams AH, Comeau ME, Ziegler JT, Marion MC, Bae SC, Lee JH, Lee JS, Chang DM, Song YW, Yu CY, Kimberly RP, Edberg JC, Brown EE, Petri MA, Ramsey-Goldman R, Vilá LM, Reveille JD, Alarcón-Riquelme ME, Harley JB, Boackle SA, Stevens AM, Scofield RH, Merrill JT, Freedman BI, Anaya JM, Criswell LA, Jacob CO, Vyse TJ, Niewold TB, Gaffney PM, Moser KL, Gilkeson GS, Kamen DL, James JA, Grossman JM, Hahn BH, Tsokos GC, Tsao BP, Alarcón GS; BIOLUPUS Network; GENLES Network. Tan W, et al. Arthritis Rheum. 2011 Sep;63(9):2755-63. doi: 10.1002/art.30452. Arthritis Rheum. 2011. PMID: 21590681 Free PMC article.
Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.
Zhao J, Wu H, Khosravi M, Cui H, Qian X, Kelly JA, Kaufman KM, Langefeld CD, Williams AH, Comeau ME, Ziegler JT, Marion MC, Adler A, Glenn SB, Alarcón-Riquelme ME; BIOLUPUS Network; GENLES Network; Pons-Estel BA, Harley JB, Bae SC, Bang SY, Cho SK, Jacob CO, Vyse TJ, Niewold TB, Gaffney PM, Moser KL, Kimberly RP, Edberg JC, Brown EE, Alarcon GS, Petri MA, Ramsey-Goldman R, Vilá LM, Reveille JD, James JA, Gilkeson GS, Kamen DL, Freedman BI, Anaya JM, Merrill JT, Criswell LA, Scofield RH, Stevens AM, Guthridge JM, Chang DM, Song YW, Park JA, Lee EY, Boackle SA, Grossman JM, Hahn BH, Goodship TH, Cantor RM, Yu CY, Shen N, Tsao BP. Zhao J, et al. PLoS Genet. 2011 May;7(5):e1002079. doi: 10.1371/journal.pgen.1002079. Epub 2011 May 26. PLoS Genet. 2011. PMID: 21637784 Free PMC article.
Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus.
Teruel M, Martin JE, Ortego-Centeno N, Jiménez-Alonso J, Sánchez-Román J, de Ramón E, Gonzalez-Escribano MF, Pons-Estel BA, D'Alfonso S, Sebastiani GD, Witte T, Bottini N, González-Gay MA, Alarcón-Riquelme ME, Martin J. Teruel M, et al. Hum Immunol. 2012 Jan;73(1):107-10. doi: 10.1016/j.humimm.2011.10.012. Epub 2011 Oct 21. Hum Immunol. 2012. PMID: 22064183
MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus.
Deng Y, Zhao J, Sakurai D, Kaufman KM, Edberg JC, Kimberly RP, Kamen DL, Gilkeson GS, Jacob CO, Scofield RH, Langefeld CD, Kelly JA, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Alarcón GS, Vyse TJ, Pons-Estel BA; Argentine Collaborative Group; Freedman BI, Gaffney PM, Sivils KM, James JA, Gregersen PK, Anaya JM, Niewold TB, Merrill JT, Criswell LA, Stevens AM, Boackle SA, Cantor RM, Chen W, Grossman JM, Hahn BH, Harley JB, Alarcόn-Riquelme ME; BIOLUPUS and GENLES networks; Brown EE, Tsao BP. Deng Y, et al. PLoS Genet. 2013;9(2):e1003336. doi: 10.1371/journal.pgen.1003336. Epub 2013 Feb 28. PLoS Genet. 2013. PMID: 23468661 Free PMC article.
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
Martin JE, Assassi S, Diaz-Gallo LM, Broen JC, Simeon CP, Castellvi I, Vicente-Rabaneda E, Fonollosa V, Ortego-Centeno N, González-Gay MA, Espinosa G, Carreira P; Spanish Scleroderma Group; SLEGEN consortium; U.S. Scleroderma GWAS group; BIOLUPUS; Camps M, Sabio JM, D'alfonso S, Vonk MC, Voskuyl AE, Schuerwegh AJ, Kreuter A, Witte T, Riemekasten G, Hunzelmann N, Airo P, Beretta L, Scorza R, Lunardi C, Van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Fonseca C, Tan FK, Arnett F, Zhou X, Reveille JD, Gorlova O, Koeleman BP, Radstake TR, Vyse T, Mayes MD, Alarcón-Riquelme ME, Martin J. Martin JE, et al. Hum Mol Genet. 2013 Oct 1;22(19):4021-9. doi: 10.1093/hmg/ddt248. Epub 2013 Jun 4. Hum Mol Genet. 2013. PMID: 23740937 Free PMC article.
Transancestral mapping and genetic load in systemic lupus erythematosus.
Langefeld CD, Ainsworth HC, Cunninghame Graham DS, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL, Sandling JK, Almlöf JC, Acevedo-Vásquez EM, Alarcón GS, Babini AM, Baca V, Bengtsson AA, Berbotto GA, Bijl M, Brown EE, Brunner HI, Cardiel MH, Catoggio L, Cervera R, Cucho-Venegas JM, Dahlqvist SR, D'Alfonso S, Da Silva BM, de la Rúa Figueroa I, Doria A, Edberg JC, Endreffy E, Esquivel-Valerio JA, Fortin PR, Freedman BI, Frostegård J, García MA, de la Torre IG, Gilkeson GS, Gladman DD, Gunnarsson I, Guthridge JM, Huggins JL, James JA, Kallenberg CGM, Kamen DL, Karp DR, Kaufman KM, Kottyan LC, Kovács L, Laustrup H, Lauwerys BR, Li QZ, Maradiaga-Ceceña MA, Martín J, McCune JM, McWilliams DR, Merrill JT, Miranda P, Moctezuma JF, Nath SK, Niewold TB, Orozco L, Ortego-Centeno N, Petri M, Pineau CA, Pons-Estel BA, Pope J, Raj P, Ramsey-Goldman R, Reveille JD, Russell LP, Sabio JM, Aguilar-Salinas CA, Scherbarth HR, Scorza R, Seldin MF, Sjöwall C, Svenungsson E, Thompson SD, Toloza SMA, Truedsson L, Tusié-Luna T, Vasconcelos C, Vilá LM, Wallace DJ, Weisman MH, Wither JE, Bhangale T, Oksenberg JR, Rioux JD, Gregersen PK, Syvänen AC, Rönnblom L, Criswell LA, Jacob … See abstract for full author list ➔ Langefeld CD, et al. Nat Commun. 2017 Jul 17;8:16021. doi: 10.1038/ncomms16021. Nat Commun. 2017. PMID: 28714469 Free PMC article.
Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells.
Löfgren SE, Yin H, Delgado-Vega AM, Sanchez E, Lewén S, Pons-Estel BA, Witte T, D'Alfonso S, Ortego-Centeno N, Martin J, Alarcón-Riquelme ME, Kozyrev SV. Löfgren SE, et al. J Rheumatol. 2010 Mar;37(3):574-8. doi: 10.3899/jrheum.090440. Epub 2010 Jan 15. J Rheumatol. 2010. PMID: 20080916
281 results