Table 1.
Alleles and genotype frequencies of common variable immunodeficiency disease (CVID) patients.
| CVID polymorphism | Control polymorphism | ||||||
|---|---|---|---|---|---|---|---|
| IFN-γ (CA)n intron | |||||||
| Allele n = 64 | Frequency | Genotype n = 32 | Frequency | Allele n = 112 | Frequency | Genotype n = 56 | Frequency |
| 1 (CA)10 | 0 | 2/2 | 7 (21,9%) | 1 (CA)10 | 0 | 2/2 | 13 (23,21) |
| 2 (CA)11 | 34 (53,1%) | 2/3 | 20 (62,5%) | 2 (CA)11 | 57 (50,89) | 2/3 | 27 (48,21) |
| 3 (CA)12 | 28 (43,7%) | 2/4 | 0 | 3 (CA)12 | 48 (42,86) | 2/4 | 2 (3,57) |
| 4 (CA)13 | 1 (1,6%) | 2/5 | 0 | 4 (CA)13 | 5 (4,46) | 2/5 | 2 (3,57) |
| 5 (CA)14 | 1 (1,6%) | 3/3 | 3 (9,4%) | 5 (CA)14 | 2 (1·79) | 3/3 | 10 (17,86) |
| 6 (CA)15 | 0 | 3/4 | 1 (3%) | 6 (CA)15 | 3/4 | 1 (1,79) | |
| 3/5 | 1 (3%) | 3/5 | 0 | ||||
| 4/4 | 0 | 4/4 | 1 (1,79) | ||||
| IL-12 p40 3′UTR +1188 A/C | |||||||
| Allele n = 70 | Frequency | Genotype n = 35 | Frequency | Allele n = 108 | Frequency | Genotype n = 54 | Frequency |
| 1 | 31 (77·5%) | 1/1 | 22 (63%) | 1 | 90 (83,33) | 1/1 | 37 (68,52) |
| 2 | 9 (22%) | 1/2 | 10 (29%) | 2 | 18 (16,67) | 1/2 | 16 (29,63) |
| 2/2 | 3 (9%) | 2/2 | 1 (1,58) | ||||
| IL-12 p40 promoter CTCTAA/GC | |||||||
| Allele n = 44 | Frequency | Genotype n = 22 | Frequency | Allele n = 586 | Frequency* | Genotype n = 293 | Frequency* |
| 1 | 22 (52%) | 1/1 | 5 (24%) | 1 | 286 (49%) | 1/1 | 69 (24%) |
| 2 | 20 (48%) | 1/2 | 12 (57%) | 2 | 300 (51%) | 1/2 | 148 (51%) |
| 2/2 | 4 (19%) | 2/2 | 76 (26%) | ||||
Fisher's exact test was used to compare CVID patients and controls. p >0·05 in all cases.
*
These control populations frequencies were reported by Morahan et al. 2002 [21]. IFN: interferon; IL: interleukin.