Gene coexpression networks reveal novel molecular endotypes in alpha-1 antitrypsin deficiency.

Jen-Hwa ChuWenlan ZangMilica VukmirovicXiting YanTaylor AdamsGiuseppe DeIuliisBuqu HuAntun MihaljinecJonas C SchuppMichael J BecichHarry HochheiserKevin F GibsonEdward S ChenAlison MorrisJoseph K LeaderStephen R WisniewskiYingze ZhangFrank C SciurbaRonald G CollmanRobert SandhausErica L HerzogKaren C PattersonMaor SaulerCharlie StrangeNaftali Kaminskinull null

Published in: Thorax (2020)

We successfully identified novel clusters of AATD individuals where severity correlated with increased immune response independent of individuals' genotype and augmentation therapy. These findings may suggest the presence of previously unrecognised disease endotypes in AATD that associate with T-lymphocyte immunity and disease severity.

Keyphrases

immune response
genome wide
copy number
dendritic cells
single cell
gene expression
dna methylation
replacement therapy
single molecule
soft tissue
inflammatory response
bone marrow