Table 1. SNPs of the IL2RA locus significantly associated with two or more autoimmune diseases according to GRASP database [21].
| SNP ID | Location | In LD (r2≥0.2) with*: | Minor allele frequency | Risk allele | Phenotype (best P-value) |
|---|---|---|---|---|---|
| rs3134883 | Intron 1 | rs3118470 (r2 = 0.89), rs706779 (r2 = 0.41), rs706778 (r2 = 0.62) | A; 0.2143 | A | Rheumatoid arthritis (8.6×10−6), Alopecia areata (1.1×10−12), Primary sclerosing cholangitis (7.3×10−7), Vitiligo (1.0×10−5) |
| rs3118470 | Intron 1 | rs3134883 (r2 = 0.89), rs706779 (r2 = 0.45), rs706778 (r2 = 0.68) | C; 0.3182 | C | Type 1 diabetes (1.3×10−6), Rheumatoid arthritis (9.2×10−7), Alopecia areata (1.7×10−12), Multiple sclerosis (3.2×10−11) |
| rs12722489 | Intron 1 | rs2104286 (r2 = 0.56) | T; 0.0962 | C | Rheumatoid arthritis (5.3×10−4), Multiple sclerosis (3.0×10−8), Crohn's disease (2.9×10−9), Ulcerative colitis (8.9×10−4) |
| rs2104286 | Intron 1 | rs12722489 (r2 = 0.56) | C; 0.1378 | T | Multiple sclerosis (3.5×10−10), Rheumatoid arthritis (1.0×10−3), Primary sclerosing cholangitis (8.7×10−4) |
| rs706779 | Intron 1 | rs3134883 (r2 = 0.41), rs3118470 (r2 = 0.45), rs706778 (r2 = 0.43) | C; 0.4721 | T | Type 1 diabetes (9.3×10−8), Alopecia areata (1.3×10−3), Graves' disease (2.3×10−6) |
| rs706778 | Intron 1 | rs3134883 (r2 = 0.62), rs3118470 (r2 = 0.68), rs706779 (r2 = 0.43) | T; 0.4849 | T | Rheumatoid arthritis (1.4×10−11), Alopecia areata (4.9×10−10), Primary sclerosing cholangitis (5.0×10−6) |
LD, linkage disequilibrium.
* r2 values are provided according to HaploReg v.4.1 [22].