Table 2.
Genotype and allele frequencies among patients (N = 634) and controls (N = 393)
| Polymorphism | Genotype | Patients n (%)a | Controls n (%)a | Odds ratio (95% confidence interval) |
|---|---|---|---|---|
| R501X | AA | 587 (94.5) | 350 (97.5) | |
| Aa | 34 (5.5) | 9 (2.5) | ||
| aa | 0 (0.0) | 0 (0.0) | ||
| Wild-type allele | 1208 (97.3) | 709 (98.7) | 1.00 | |
| Mutation allele | 34 (2.7) | 9 (1.3) | 2.25 (1.07 – 4.75)* | |
| 2282del4 | AA | 567 (90.6) | 350 (95.1) | |
| Aa | 58 (9.3) | 18 (4.9) | ||
| aa | 1 (0.2) | 0 (0.0) | ||
| Wild-type allele | 1192 (95.2) | 718 (97.6) | 1.00 | |
| Mutation allele | 60 (4.8) | 18 (2.4) | 2.02 (1.17 – 3.49)* | |
| R2447X | AA | 599 (99.2) | 345 (99.4) | |
| Aa | 5 (0.8) | 2 (0.6) | ||
| aa | 0 (0.0) | 0 (0.0) | ||
| Wild-type allele | 1203 (99.6) | 692 (99.7) | 1.00 | |
| Mutation allele | 5 (0.4) | 2 (0.3) | 1.44 (0.28 – 7.46) | |
| S3247X | AA | 608 (99.2) | 357 (99.7) | |
| Aa | 5 (0.8) | 1 (0.3) | ||
| aa | 0 (0.0) | 0 (0.0) | ||
| Wild-type allele | 1221 (99.6) | 715 (99.9) | 1.00 | |
| Mutation allele | 5 (0.4) | 1 (0.1) | 2.94 (0.34 – 25.23) | |
| Combined | AA | 499 (84.1) | 299 (91.7) | |
| Aa | 87 (14.7) | 27 (8.3) | ||
| aab | 7 (1.2) | 0 (0.0) | ||
| Wild-type allele | 1085 (91.5) | 625 (95.9) | 1.00 | |
| Mutation allele | 101 (8.5) | 27 (4.1) | 2.09 (1.33 – 3.28)* |
a
Total number of subjects may differ between polymorphisms due to genotyping failures
b
Homozygous or compound heterozygous
*
Significant at p < 0.05