Publication

Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus

Journal Paper/Review - Aug 19, 2021

Units
PubMed
Doi

Citation
Kiener S, Ribi C, Keller I, Chizzolini C, Trendelenburg M, Huynh-Do U, von Kempis J, On Behalf Of Swiss Sle Cohort Study Sscs, Leeb T. Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus. Genes (Basel). 2021; 12
Type
Journal Paper/Review (English)
Journal
Genes (Basel). 2021; 12
Publication Date
Aug 19, 2021
Issn Electronic
2073-4425
Brief description/objective

Systemic lupus erythematosus (SLE) is a heterogeneous multifactorial disease. Upregulated TLR7 signaling is a known risk factor for SLE. Recently, it was shown that specific genetic variants in affect the physiological regulation of TLR7 signaling and cause characteristic autoimmune phenotypes with monogenic autosomal recessive inheritance in mutant mice and dogs. We therefore hypothesized that homologous variants in the human gene might be responsible for a fraction of human SLE patients. We analyzed 536 patients of the Swiss SLE Cohort Study for the presence of genetic variants affecting the C-terminal tail of UNC93B1. None of the investigated patients carried bi-allelic variants that were likely to explain their SLE phenotypes. We conclude that genetic variants affecting the C-terminal tail of UNC93B1 are not a common risk factor for SLE. It cannot be excluded that such variants might contribute to other heritable autoimmune diseases.