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Brief Communication

Nature Genetics 39, 1065–1067 (1 September 2007) | doi:10.1038/ng2091

Mutations in the gene encoding the 3|[prime]|-5|[prime]| DNA exonuclease TREX1 are associated with systemic lupus erythematosus

Min Ae Lee-Kirsch , Maolian Gong , Dipanjan Chowdhury , Lydia Senenko , Kerstin Engel , Young-Ae Lee , Udesh de Silva , Suzanna L Bailey , Torsten Witte , Timothy J Vyse , Juha Kere , Christiane Pfeiffer , Scott Harvey , Andrew Wong , Sari Koskenmies , Oliver Hummel , Klaus Rohde , Reinhold E Schmidt , Anna F Dominiczak , Manfred Gahr , Thomas Hollis , Fred W Perrino , Judy Lieberman & Norbert H|[uuml]|bner

TREX1 acts in concert with the SET complex in granzyme A–mediated apoptosis, and mutations in TREX1 cause Aicardi-Gouti|[egrave]|res syndrome and familial chilblain lupus. Here, we report monoallelic frameshift or missense mutations and one 3|[prime]| UTR variant of TREX1 present in 9/417 individuals with systemic lupus erythematosus but absent in 1,712 controls (P = 4.1 |[times]| 10|[minus]|7).