Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes

• Published in: Gene Vol. 907; p. 148279
• Main Authors: Latini, Andrea, Borgiani, Paola, De Benedittis, Giada, Ciccacci, Cinzia, Novelli, Lucia, Pepe, Gerardo, Helmer-Citterich, Manuela, Baldini, Isabella, Perricone, Carlo, Ceccarelli, Fulvia, Conti, Fabrizio, Ianniciello, Generoso, Caceres, Juan, Ottalevi, Riccardo, Capulli, Mattia, Novelli, Giuseppe
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 20.05.2024
• Subjects: Genome sequencing; Rare variants; Systemic Lupus Erythematosus; Systemic Lupus Erythematosus; CADD; WGS; GWAS; Genome sequencing; WES; Rare variants; SLE; BAM; MAF; VUS; VCF; SNVs

•Common genetic variants often have a modest effect on the SLE risk.•Rare variants in genes associated to SLE could have an effect on susceptibility.•Genomic DNA of 200 SLE patients was sequenced by whole exome sequencing.•19 rare variants were identified in TNFAIP3, TRAF3IP2, STAT4 and HCP5 genes.•...