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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
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.
Delgado-Vega AM, Dozmorov MG, Quirós MB, Wu YY, Martínez-García B, Kozyrev SV, Frostegård J, Truedsson L, de Ramón E, González-Escribano MF, Ortego-Centeno N, Pons-Estel BA, D'Alfonso S, Sebastiani GD, Witte T, Lauwerys BR, Endreffy E, Kovács L, Vasconcelos C, da Silva BM, Wren JD, Martin J, Castillejo-López C, Alarcón-Riquelme ME. Delgado-Vega AM, et al. Ann Rheum Dis. 2012 Jul;71(7):1219-26. doi: 10.1136/annrheumdis-2011-200987. Ann Rheum Dis. 2012. PMID: 22696686 Free PMC article.
PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6.
Oparina NY, Delgado-Vega AM, Martinez-Bueno M, Magro-Checa C, Fernández C, Castro RO, Pons-Estel BA, D'Alfonso S, Sebastiani GD, Witte T, Lauwerys BR, Endreffy E, Kovács L, Escudero A, López-Pedrera C, Vasconcelos C, da Silva BM, Frostegård J, Truedsson L, Martin J, Raya E, Ortego-Centeno N, de Los Angeles Aguirre M, de Ramón Garrido E, Palma MJ, Alarcon-Riquelme ME, Kozyrev SV. Oparina NY, et al. Ann Rheum Dis. 2015 Mar;74(3):e14. doi: 10.1136/annrheumdis-2013-204909. Epub 2014 Feb 17. Ann Rheum Dis. 2015. PMID: 24534757
Functional variants of Fc gamma receptor (FCGR2A) and FCGR3A are not associated with susceptibility to systemic sclerosis in a large European Study (EUSTAR).
Alizadeh BZ, Broen J, Rueda B, Hesselstrand R, Wuttge D, Simeon C, Ortego-Centeno N, Gonzalez-Gay MA, Pros A, Herrick A, Worthington J, Denton C, Fonseca C, Riemekasten G, Vonk MC, van den Hoogen F, Guiducci S, Matucci-Cerinic M, Scorza R, Beretta L, Airó P, Coenen M, Martin J, Koeleman BP, Radstake TR; EUSTAR. Alizadeh BZ, et al. J Rheumatol. 2010 Aug 1;37(8):1673-9. doi: 10.3899/jrheum.091259. Epub 2010 Jun 15. J Rheumatol. 2010. PMID: 20551103
The functional polymorphism 844 A>G in FcαRI (CD89) does not contribute to systemic sclerosis or rheumatoid arthritis susceptibility.
Broen JC, Coenen MJ, Rueda B, Witte T, Padyukov L, Klareskog L, Hesselstrand R, Wuttge DM, Simeon C, Ortego-Centeno N, González-Gay MA, Pros A, Hunzelman N, Riemekasten G, Kreuter A, Vonk M, Scorza R, Beretta L, Airò P, van Riel PL, Kimberly R, Martin J, Edberg J, Radstake TR. Broen JC, et al. J Rheumatol. 2011 Mar;38(3):446-9. doi: 10.3899/jrheum.100427. Epub 2010 Dec 15. J Rheumatol. 2011. PMID: 21159834
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
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.
Association of a CD24 gene polymorphism with susceptibility to systemic lupus erythematosus.
Sánchez E, Abelson AK, Sabio JM, González-Gay MA, Ortego-Centeno N, Jiménez-Alonso J, de Ramón E, Sánchez-Román J, López-Nevot MA, Gunnarsson I, Svenungsson E, Sturfelt G, Truedsson L, Jönsen A, González-Escribano MF, Witte T; German Systemic Lupus Erythematosus Study Group; Alarcón-Riquelme ME, Martín J. Sánchez E, et al. Arthritis Rheum. 2007 Sep;56(9):3080-6. doi: 10.1002/art.22871. Arthritis Rheum. 2007. PMID: 17763438 Free 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
Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression.
Broen JC, Dieude P, Vonk MC, Beretta L, Carmona FD, Herrick A, Worthington J, Hunzelmann N, Riemekasten G, Kiener H, Scorza R, Simeon CP, Fonollosa V; Spanish Systemic Sclerosis Group; Carreira P, Ortego-Centeno N, Gonzalez-Gay MA, Airo' P, Coenen MJ, Tsang K, Aliprantis AO, Martin J, Allanore Y, Radstake TR. Broen JC, et al. J Rheumatol. 2012 Jan;39(1):112-8. doi: 10.3899/jrheum.110235. Epub 2011 Nov 1. J Rheumatol. 2012. PMID: 22045834 Free article.
386 results