Figure 4.
The risk variant rs56258221 (BACH2/MIR4464) is associated with lower BACH2 protein levels and increased expression of miR4464
(A) Schematic depiction of the workflow for scATAC-Seq analysis (n = 4).
(B) Coverage plot showing the chromatin region of BACH2. Significantly increased accessible chromatin regions in SNP carriers (n = 2) are highlighted in red.
(C) Coverage plot showing the chromatin region surrounding rs56258221, including the MIR4464 locus. Significantly increased accessible chromatin regions in SNP carriers (n = 2) are highlighted in red.
(D) Detection of miR4464 in FACS-sorted CD4+ TN of homozygous carriers and non-carriers of rs56258221.
(E and F) Gene ontology (GO) terms representing total accessible chromatin regions from either SNP carriers (E) or non-carriers (F). The ten GO terms with lowest p values are displayed.
(G) Assignment of transcription factor-binding sites (TFBS) to accessible chromatin regions via TOBIAS. Analysis of differential TFBS accessibility between carriers of rs56258221 (n = 2) and non-carriers (n = 2) is shown. Characteristics of the clinical cohort are included in Table S3. Statistics: normality distribution was tested by Kolmogorov-Smirnov test; normal distribution: Welch’s t test; no normal distribution: Mann-Whitney U test. p < 0.05 was considered statistically significant. Data are presented as mean ± SD and deriving from n ≥ 2 repeats per experiment.