Table 1.
Frequency of selected TACI coding variants in individuals with CVID and IgADa
| C104R | A181E | R202H | |||
|---|---|---|---|---|---|
| CVID (all)b | 16/846 | 14/844d | 22/844 | 16/844d | 1/852 |
| Controls (all)c | 17/4,208 | 17/4,208 | 20/3,924e | 20/3,924e | 6/4,624 |
| P value | 8.2 × 10−5 | 3.8 × 10−4 | 3.9 × 10−8 | 2.4 × 10−5 | 0.69 |
| OR | 4.16 (1.98–8.74) | 3.69 (1.73–7.89) | 5.60 (2.99–10.51) | 4.08 (2.07–8.04) | 0.57 (0.06–5.40) |
| IgAD (Swedish) | 1/478 | 7/464 | 2/480 | ||
| Controls (Swedish) | 8/2,038 | 12/1,730 | 0/2,082 | ||
| P value | 0.55 | 0.09 | 3.0 × 10−3 | ||
| OR | 0.53 (0.07–4.12) | 2.19 (0.88–5.47) | – – |
||
(Number of variant alleles)/(number of tested alleles).
The ‘CVID (all)’ group includes 115 Swedish, 154 German and 155 US individuals with CVID.
The ‘Controls (all)’ group includes 1,080 healthy Swedish blood donors and consecutive samples from the Swedish national neonatal screening program for phenylketonuria (PKU)6, 342 healthy German blood donors and 787 healthy US donors from the New York cancer project collection7.
Homozygous sequence variants were excluded from the calculation.
One ‘control’ heterozygous for the A181E allele was found to be hypogammaglobulinemic (serum level of IgG = 3.7 g/l). The institutional review boards at the Karolinska Institute approved this study, and informed consent was obtained from all patients.