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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.
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN); Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, Guthridge JM, Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD, Ojwang JO, James JA, Merrill JT, Gilkeson GS, Seldin MF, Yin H, Baechler EC, Li QZ, Wakeland EK, Bruner GR, Kaufman KM, Kelly JA. International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), et al. Nat Genet. 2008 Feb;40(2):204-10. doi: 10.1038/ng.81. Epub 2008 Jan 20. Nat Genet. 2008. PMID: 18204446 Free PMC article.
European population substructure is associated with mucocutaneous manifestations and autoantibody production in systemic lupus erythematosus.
Chung SA, Tian C, Taylor KE, Lee AT, Ortmann WA, Hom G, Graham RR, Nititham J, Kelly JA, Morrisey J, Wu H, Yin H, Alarcón-Riquelme ME, Tsao BP, Harley JB, Gaffney PM, Moser KL, Manzi S, Petri M, Gregersen PK, Langefeld CD, Behrens TW, Seldin MF, Criswell LA. Chung SA, et al. Arthritis Rheum. 2009 Aug;60(8):2448-56. doi: 10.1002/art.24707. Arthritis Rheum. 2009. PMID: 19644962 Free PMC article.