| Literature DB >> 17660818 |
Min Ae Lee-Kirsch1, 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 Hübner.
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.Entities:
Mesh：
Substances：
Year: 2007 PMID： 17660818 DOI： 10.1038/ng2091
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330