Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus

@article{LeeKirsch2007MutationsIT,
  title={Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus},
  author={Min Ae Lee-Kirsch and Maolian Gong and Dipanjan Chowdhury and Lydia Senenko and Kerstin Engel and Y A Lee and Udesh de Silva and Suzanna L. Bailey and Torsten Witte and Timothy J Vyse and Juha Kere and C E Schuehle Pfeiffer and Scott Harvey and Andrew Wong and Sari Koskenmies and Oliver Hummel and K. Rohde and Reinhold Ernst Schmidt and Anna F. Dominiczak and Manfred Gahr and Thomas Hollis and F. W. Perrino and Judy Lieberman and Norbert H{\"u}bner},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={1065-1067}
}
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. 
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