B lymphocytes in treatment-naive paediatric patients with lupus are epigenetically distinct from healthy children

Autor: Betty Diamond, Joyce Hui-Yuen, Kaiyu Jiang, Susan Malkiel, Barbara Anne Eberhard, Heather Walters, James Jarvis
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Lupus Science and Medicine, Vol 10, Iss 1 (2023)
Druh dokumentu: article
ISSN: 2053-8790
DOI: 10.1136/lupus-2023-000921
Popis: Background SLE is likely triggered by gene–environment interactions. We have shown that most SLE-associated haplotypes encompass genomic regions enriched for epigenetic marks associated with enhancer function in lymphocytes, suggesting genetic risk is exerted through altered gene regulation. Data remain scarce on how epigenetic variance contributes to disease risk in paediatric SLE (pSLE). We aim to identify differences in epigenetically regulated chromatin architecture in treatment-naive patients with pSLE compared with healthy children.Methods Using the assay for transposase-accessible chromatin with sequencing (ATACseq), we surveyed open chromatin in 10 treatment-naive patients with pSLE, with at least moderate disease severity, and 5 healthy children. We investigated whether regions of open chromatin unique to patients with pSLE demonstrate enrichment for specific transcriptional regulators, using standard computational approaches to identify unique peaks and a false discovery rate of
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