Table 2.
Distribution of alpha-1 antitrypsin genotype in CVID patients and controls
| CVID patients n = 43 | Healthy controls n = 70 | |||
|---|---|---|---|---|
| AAT genotype | n | % | n | % |
| S and Z absent | 38 | 88·37 | 57 | 82·43 |
| S heterozygote | 1 | 2·33 | 9 | 12·86 |
| Z heterozygote | 3 | 6·98 | 4 | 5·71 |
| SZ heterozygote | 1 | 2·33 | – | – |
| SS homozygote | – | – | – | – |
| ZZ homozygote | – | – | – | – |
| Allele frequency | n | Freq | n | Freq |
| S allele | 2 | 0·023 | 9 | 0·064 |
| Z allele | 4 | 0·047 | 4 | 0·029 |
Non-Caucasian results are excluded; n is the number of subjects within each group. A corresponding percentage figure is also given. Statistical analysis of AAT genotypes in CVID and control populations using Students’ t-test did not demonstrate any significant differences between groups. P-values comparing different populations were: CVID versus healthy controls: S heterozygote, P < 0·09; Z heterozygote, P < 1·0, SZ heterozygote, P < 0·38.