Table 1 Minor allele frequency and carrier state for GR polymorphisms in C1-INH-HAE patients and in healthy controls
From: Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency
Polymorphism | C1-INH- HAE | Healthy control group | p value |
|---|---|---|---|
N = 139 | N = 160 | ||
N363S | |||
Minor allele frequency | 0.05 | 0.031 | 0.78 |
Heterozygous carriers (+/−) | 13 (9.3%) | 10 (6.3%) | 0.77 |
Homozygous carriers (+/+) | - | - | - |
Non-carriers | 126 (90.7%) (96,7%) (90.7%) | 150 (93.7%) | 0.77 |
BclI | |||
Minor allele frequency | 0.36 | 0.35 | 0.87 |
Heterozygous carriers (+/−) | 53 (38.1%) | 82 (51.3%) | 0.08 |
Homozygous carriers (+/+) | 24 (17.3%) | 16 (10%) | 0.24 |
Non-carriers | 62 (44.6%) | 62 (38.7%) | 0.72 |
A3669G | |||
Minor allele frequency | 0.15 | 0.22 | 0.11 |
Heterozygous carriers (+/−) | 39 (28.1%) | 48 (30%) | 0.99 |
Homozygous carriers (+/+) | 2 (1.4%) | 12 (7.5%) | 0.04 |
Non-carriers | 98 (70.5%) | 100 (62.5%) | 0.42 |