Journal
NATURE GENETICS
Volume 39, Issue 9, Pages 1065-1067Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2091
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Funding
- NIAID NIH HHS [AI45587] Funding Source: Medline
- NIGMS NIH HHS [GM069962] Funding Source: Medline
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TREX1 acts in concert with the SET complex in granzyme A - mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutieres 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= 4.1x10(-7)). We demonstrate that two mutant TREX1 alleles alter subcellular targeting. Our findings implicate TREX1 in the pathogenesis of SLE.
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