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TY - JOUR AU - Lee-Kirsch, Min Ae AU - Gong, Maolian AU - Chowdhury, Dipanjan AU - Senenko, Lydia AU - Engel, Kerstin AU - Lee, Young-Ae AU - de Silva, Udesh AU - Bailey, Suzanna L AU - Witte, Torsten AU - Vyse, Timothy J AU - Kere, Juha AU - Pfeiffer, Christiane AU - Harvey, Scott AU - Wong, Andrew AU - Koskenmies, Sari AU - Hummel, Oliver AU - Rohde, Klaus AU - Schmidt, Reinhold E AU - Dominiczak, Anna F AU - Gahr, Manfred AU - Hollis, Thomas AU - Perrino, Fred W AU - Lieberman, Judy AU - Hübner, Norbert PY - 2007 DA - 2007/09/01 TI - Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus JO - Nature Genetics SP - 1065 EP - 1067 VL - 39 IS - 9 AB - TREX1 acts in concert with the SET complex in granzyme A–mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutières syndrome and familial chilblain lupus. Here, we report monoallelic frameshift or missense mutations and one 3′ UTR variant of TREX1 present in 9/417 individuals with systemic lupus erythematosus but absent in 1,712 controls (P = 4.1 × 10−7). We demonstrate that two mutant TREX1 alleles alter subcellular targeting. Our findings implicate TREX1 in the pathogenesis of SLE. SN - 1546-1718 UR - https://doi.org/10.1038/ng2091 DO - 10.1038/ng2091 ID - Lee-Kirsch2007 ER -