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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus |
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| Authors: | Lee-Kirsch Min Ae Gong Maolian Chowdhury Dipanjan Senenko Lydia Engel Kerstin Lee Young-Ae de Silva Udesh Bailey Suzanna L Witte Torsten Vyse Timothy J Kere Juha Pfeiffer Christiane Harvey Scott Wong Andrew Koskenmies Sari Hummel Oliver Rohde Klaus Schmidt Reinhold E Dominiczak Anna F Gahr Manfred Hollis Thomas Perrino Fred W Lieberman Judy Hübner Norbert |
| Affiliation: | Klinik für Kinder- und Jugendmedizin, Technische Universit?t Dresden, 01307 Dresden, Germany. minae.lee-kirsch@uniklinikum-dresden.de |
| Abstract: | 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 x 10(-7)). We demonstrate that two mutant TREX1 alleles alter subcellular targeting. Our findings implicate TREX1 in the pathogenesis of SLE. |
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