Table 3.
SNP | Gene | Chr |
P |
Combined corrected | Risk allele | Risk allele frequency | OR | Phenotype | References | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|
GWAS | US | Sweden | Combined | |||||||||
rs1990760 | IFIH1 | 2 | 3.2 × 10−5 | 0.015 | 0.0039 | 3.34 × 10−7 | 1.12 × 10−5 | T | 0.60 | 1.17 | T1D, Graves’ | 27,28 |
rs641153a | CFB | 6 | 0.0079 | n.a. | 0.0011 | 1.4 × 10−4 | 0.0049 | G | 0.91 | 1.30 | AMD | 29 |
rs12708716a | CLEC16A | 16 | 0.15 | 1.3 × 10−4 | 0.062 | 1.6 × 10−4 | 0.0056 | A | 0.64 | 1.16 | T1D, Addison’s, MS | 32–34 |
rs6887695a | IL12B | 5 | 0.014 | 0.04 | 0.03 | 1.7 × 10−4 | 0.0060 | G | 0.68 | 1.13 | Psoriasis, IBD | 12,35 |
rs17696736 | SH2B3 | 12 | 0.0036 | 0.12 | 0.19 | 4.0 × 10−4 | 0.014 | T | 0.50 | 1.08 | T1D, Celiac, SLE | 33,36,37 |
All alleles in the table either were identical to the reported variants or have r2 > 0.8 to the reported variant and were the same risk allele with the same direction of effect. Samples, individual and combined P values, risk allele frequency and OR are as described in Table 1 legend. Combined-corrected P value is the Bonferroni-corrected P value for the 35 previously reported risk loci. Other autoimmunity associations: T1D, type 1 diabetes; AMD, age-related macular degeneration; MS, multiple sclerosis; IBD, inflammatory bowel disease. See Supplementary Table 3 for expanded summary statistics and a complete list of variants tested.
Indicates markers that were imputed, as described in Online Methods, from the GWAS samples and directly genotyped in the replication samples.