Table 2.

Association analysis of the four rare IFIH1 polymorphisms in T1D patients and controls and in families that have one or more offspring with T1D and their parents. Results for additional IFIH1 SNPs are shown in table S5. CI, confidence interval; T/NT, number of alleles transmitted and nontransmitted to the affected offspring.

Allele * 1 > 2Case—control studyFamily study
11(%)12(%)22(%)MAF (%)OR (95% CI) P value T/NTRR (95% CI) P value § Combined P value
rs35667974/I923V A > G T1D 7853 (97.8) 172 (2.1) 3 (0.04) 1.1 0.51 1.3 × 10-14 67/111 0.60 5.9 × 10-4 2.1 × 10-16
    Exon 14 controls 9166 (95.7) 404 (4.2) 4 (0.04) 2.2 (0.43 - 0.61) (0.45 - 0.82)
rs35337543/IVS8+1 G > C T1D 7945 (98.0) 163 (2.0) 0 (0.0) 1.0 0.68 1.1 × 10-4 51/60 0.85 0.20 1.4 × 10-4
    Intron 8, splice site controls 9330 (97.1) 280 (2.9) 0 (0.0) 1.5 (0.56 - 0.83) (0.59 - 1.23)
rs35744605/E627X G > T T1D 8109 (99.1) 76 (0.9) 0 (0.0) 0.46 0.69 9.0 × 10-3 17/31 0.55 2.8 × 10-2 1.3 × 10-3
    Exon10 controls 9621 (98.7) 131 (1.3) 0 (0.0) 0.67 (0.52 - 0.91) (0.30 - 0.99)
rs35732034/IVS14+1 G > A T1D 8047 (98.6) 109 (1.3) 2 (0.03) 0.69 0.74 1.2 × 10-2 35/56 0.63 2.1 × 10-2 1.1 × 10-3
    Intron 14, splice site controls 9552 (98.1) 180 (1.9) 1 (0.01) 0.93 (0.59 - 0.94) (0.41 - 0.95)
  • * Major allele is coded 1; minor allele is coded 2.

  • OR and relative risks (RR) for minor (rarer) alleles are shown.

  • Two-tailed P values were calculated with logistic regression.

  • § One-tailed P values were calculated with transmission disequilibrium test with robust variance estimates.

  • Combined P values for the case-control and family data were calculated with a score test as described previously (26).