Fig. 3: Exome-wide analysis of common genetic variation for 40 IMDs in UKB.

A A circos plot representing significant associations between common genetic variants (MAF > 1%), their reference genes, and linked IMDs. The shape of the points indicated whether the mutations were associated with higher or lower disease risk, while their size conveys the strength of association measured through coefficients. Statistical significance was ascertained using a logistic model in PLINK, with the conventional threshold set at 5 × 10⁻⁸ (before adjustment of multiple comparisons, two-sided P-value). B A scatter plot illustrating the convergence of GWAS signals (P < 5 × 10⁻⁸, two-sided, before adjustment of multiple comparisons) across identified common genes. The x-axis labels the phenotypes (IMDs), while the y-axis presents the coefficient for each association test. C The pleiotropic impacts of detected common protein-coding genes on various IMDs. The shape of the point denotes if the gene-disease link is novel, previously identified, or a replication of past findings. IMD immune-mediated disease, UKB the United Kingdom Biobank, MAF minor allele frequency, GWAS genome-wide association study, AD atopic dermatitis, Lichen Lichen planus, SLE systemic lupus erythematosus, Celiac Celiac disease, Crohn Crohn’s disease, UC ulcerative colitis, T1D diabetes mellitus (Type I), Graves Graves’ disease, HPT autoimmune hypothyroidism, SD sarcoidosis, AS ankylosing spondylitis, NV necrotizing vasculopathies, PR polymyalgia rheumatica, PST psoriatic and enteropathic arthropathies, Sicca Sicca syndrome (Sjogren’s syndrome), MS multiple sclerosis, Behcet Behcet’s disease, Hepatitis autoimmune hepatitis, ID immunodeficiency with predominantly antibody defects.