Table 5.
Association of the PTPN22 Missense SNP with Four Autoimmune Diseases in the White MADGC Families (249 Families, 746 Affected Individuals)
| AutoimmuneDisease(s) | No. of Cases | T-AlleleFrequency (%) | OR (95% CI)a |
| T1D | 61 | 18.9 | 2.49 (1.56–3.97) |
| Hashimoto thyroiditis | 194 | 14.2 | 1.77 (1.31–2.40) |
| SLEb | 101 | 12.9 | 1.58 (1.04–2.43) |
| RAc | 122 | 11.9 | 1.45 (.97–2.16) |
| Graves disease | 58 | 10.3 | 1.24 (.67–2.27) |
| MS | 120 | 8.3 | .98 (.61–1.56) |
| Psoriasis | 51 | 7.8 | .91 (.44–1.89) |
| JRA | 27 | 7.4 | .86 (.31–2.39) |
| IBD | 41 | 7.3 | .85 (.37–1.96) |
| SS | 16 | 3.1 | .35 (.05–2.54) |
| T1D, AITD, SLE, and RA | 483 | 12.9 | 1.59 (1.28–1.98) |
a
The OR was calculated on the basis of a T-allele frequency of 8.5% in 2,064 white control subjects; 95% CIs are not corrected for the complex patterns of relatedness of cases.
b
Thirty-two cases from affected sib pair families reported elsewhere (Kyogoku et al. 2004).
c
Forty-three cases from affected sib pair families reported elsewhere (Begovich et al. 2004).