Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus.

Prithvi RajRan SongHonglin ZhuLinley RiedigerDong-Jae JunChaoying LiangCarlos AranaBo ZhangYajing GaoBenjamin E WakelandIgor DozmorovJinchun ZhouJennifer A KellyBernard R LauwerysJoel M GuthridgeNancy J OlsenSwapan K NathChandrashekhar PasareNicolai van OersGary GilkesonBetty P TsaoPatrick M GaffneyPeter K GregersenJudith A JamesXiaoxia ZuoDavid R KarpQuan-Zhen LiEdward K Wakeland

Published in: Genome biology (2020)

We demonstrate how targeted sequencing captures low-frequency functional risk alleles that are missed by SNP array-based studies. SLE patients with the DAP1 genotype have distinct autoantibody and transcription profiles, supporting the dissection of SLE heterogeneity by genetic analysis.

Keyphrases

single cell
systemic lupus erythematosus
disease activity
transcription factor
high throughput
high density
genome wide
rheumatoid arthritis
case control
gene expression
dna methylation
celiac disease
mass spectrometry