Table 6.
IURD genomic loci credible sets shared with other FinnGen endpoints
| Locus | Gene | IURD | Colocalized | Overlapped |
|---|---|---|---|---|
| 1q21.3 | ARNT | NP | - | Malignant neoplasm of skin (1) |
| 2q12.1 | IL18RAP | NP, VAR, CRS | Asthma (12); Allergic conjunctivitis (2) | Acute upper respiratory infections (2) |
| 2q13 | MIR4435-2HG | PA | - | Asthma (13); Umbilical hernia (2) |
| 4q24a | NFKB1 | CDTA, PA | - | Other diabetes (E13; 1) |
| 5q22.1 | WDR36 | NP, VAR, CRS | Asthma (15) | Polyp of the female genital tract (1) |
| 5q31.1b | SLC22A4 | NP | - | Asthma (9); Dermatitis (3); Breast cancer (2); IBD (2); Chalazion (1) |
| 9p24.1 | IL33 | VAR, CRS | Asthma (7); Acute sinusitis (1) | Asthma-related infections (4) |
| 9q33.3 | NEK6 | NP | - | Arthropathies (2) |
| 9q34.2 | ABO | CDTA | DVT of lower extremities and PE (3); Gastric ulcer (2); Type 2 diabetes (1) | Type 2 diabetes (3) |
| 10p14a | GATA3 | NP | - | Asthma (1) |
| 10p14b | GATA3 | NP, CRS | Asthma (5) | - |
| 11q13.5 | EMSY | VAR | Asthma (7); IBD (7); Allergic conjunctivitis (4); Atopic Dermatitis (4); Mucosal proctocolitis (1) | IBD (1) |
| 12p13.31 | LTBR | CDTA, PA | Appendicitis (2) | - |
| 12q13.2 | RAB5B | NP | Type 1 diabetes (4); Hypothyroidism (1) | Type 1 diabetes (4); Hypothyroidism (5) |
| 15q22.33 | SMAD3 | VAR | Asthma (5); Coronary revascularization (1); Haemmorrhoids (1); Allergy (1) | Asthma (8); Thyroid cancer (4) |
| 16p13.13 | CLEC16A | NP | Asthma (6) | Asthma (5); Type 1 diabetes (1) |
| 17p11.2 | TNFRSF13B | CDTA | Non-suppurative otitis media (1) | - |
| 17q21.1 | IKZF3 | CRS | Cervical cancer (2); Acute sinusitis (1) | Asthma (18); IBD (8); Mucosal proctocolitis (1) |
| 22q12.2 | HORMAD2 | CDTA | - | Type 1 diabetes (6); Hypothyroidism (4) |
Using an in-house colocalization pipeline (Methods), the phenotypes in the “IURD” column credible sets had significant causal posterior probability/agreement with non-IURD FinnGen phenotypes (“Colocalized”), or otherwise overlapping variants in credible sets with non-IURD FinnGen phenotypes (“Overlapped”). Non-IURD phenotypes in “Colocalized” and “Overlapped” columns are grouped according common traits, such that “Asthma” refers to endpoints such as “allergic asthma” or “childhood asthma”, with the number of parallel endpoints included in a parenthesis. Broader categories (e.g., “Diseases of the respiratory system”) are omitted. “Gene” reports the gene nearest to the lead variant, as reported in Tables 2 and 3. Full colocalization results are reported in Supplementary Data 9. NP Nasal polyposis, VAR vasomotor and allergic rhinitis, CRS chronic rhinosinusitis, CDTA chronic diseases of tonsils and adenoids, PA peritonsillar abscess, DVT deep vein thrombosis, PE pulmonary embolism, E13 ICD-10 code for “Other specified diabetes mellitus”.