Table 1.
Genotypes for SIAE variants in autoimmune disease cases and controls.
| Autoimmune Addison's disease | UK healthy controls | ||||
|---|---|---|---|---|---|
| Genotypea | Rare allele/genotype frequency | Genotypea | Rare allele frequency | P value | |
| W48X | 0/0/370 | 0 | 0/0/373 | 0 | – |
| M89V | 2/42/303 | 0.0058b | 0/43/315 | 0 | 0.242 |
| C196F | 0/1/374 | 0.0013 | 0/1/383 | 0.0013 | – |
| C226G | 0/0/371 | 0 | 0/0/383 | 0 | – |
| R230W | 0/0/375 | 0 | 0/0/386 | 0 | – |
| T312M | 0/1/372 | 0.0013 | 0/0/385 | 0 | 0.492 |
| Y349C | 0/0/360 | 0 | 0/0/381 | 0 | – |
| F404S | 0/0/372 | 0 | 0/0/382 | 0 | – |
| R479C | 0/0/358 | 0 | 0/0/362 | 0 | – |
a
Data presented as number of rare homozygote/heterozygote/common homozygote genotypes.
b
Homozygous 89*V genotype.