Increased burden of rare variants in genes of the endosomal Toll-like receptor pathway in patients with systemic lupus erythematosus.

Tom N Lea-HenryAaron ChuahMaurice StanleyVicki AthanasopoulosMalcolm R StarkeyDaniel ChristiadiA Richard KitchingMatthew C CookThomas D AndrewsCarola G VinuesaGiles D WaltersSimon H Jiang

Published in: Lupus (2021)

Rare non-synonymous variants are enriched in patients with SLE in the eTLR pathway. This supports the hypothesis that SLE arises from several rare variants of relatively large effect rather than many common variants of small effect.

Keyphrases

toll like receptor
copy number
systemic lupus erythematosus
inflammatory response
nuclear factor
genome wide
disease activity
immune response
gene expression
dna methylation