Fig. 4: TREX1 variants are not associated with type I interferon-related autoimmunity in UK Biobank. | Nature Communications

Fig. 4: TREX1 variants are not associated with type I interferon-related autoimmunity in UK Biobank.

From: Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank

Fig. 4

A Flow diagram for the selection of reported disease-causing TREX1 variants. Two variants were excluded: c.679G > A and c.720G > C. B Lollipop plot of carrier counts for reported disease-causing TREX1 variants in UK Biobank. Source data are provided as a Source Data file. C Clinical associations of reported disease-causing TREX1 variants. Autoimmune diseases grouped by type I interferon signature from MIRO scores (Fig. 3B). Associations examined using logistic regressions with Firth penalisation adjusted for age, sex and the 10 first genetic principal components (two-sided tests). Data are presented as adjusted OR (95% CI). D Neuroradiological associations of reported disease-causing TREX1 variants. Volumes refer to mean (SD) or median (Q1-Q3). Associations examined using linear regressions adjusted for age, sex, scanning centre and the 10 first genetic principal components (two-sided tests). Data are presented as adjusted β (95% CI). 1000GP 1000 Genomes Project, AGS Aicardi-Goutières syndrome, aOR adjusted odds ratio, CI confidence interval, CADD Combined Annotation-Dependent Depletion score (PHRED-like scaled), Exo exonuclease region, FCL familial chilblain lupus, gnomAD Genome Aggregation Database exome, LOVD Leiden Open source Variation Database, MAF minor allele frequency, MIRO Markers of type I Interferon Response in Olink, PPII polyproline II motif, SD standard deviation, SLE systemic lupus erythematosus, TMH transmembrane helix, UKB UK Biobank.

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