Table 2. FLG genotypes, null mutations, and copy number variants in 876 Irish atopic dermatitis cases and 928 Irish population controls.
|
Whole collection |
FLG mutation carriers excluded |
|||
|---|---|---|---|---|
| Allelic variant | Atopic dermatitis cases, n (%) | Population controls, n (%) | Atopic dermatitis cases, n (%) | Population controls, n (%) |
| 10 Repeats | 696 (39.7) | 629 (33.9) | 410 (38.8) | 550 (33.4) |
| 11 Repeats | 814 (46.5) | 956 (51.5) | 497 (47.1) | 856 (51.9) |
| 12 Repeats | 242 (13.8) | 271 (14.6) | 149 (14.1) | 242 (14.7) |
| Total copy number | ||||
| 20 | NA | NA | 85 (16.1) | 87 (10.6) |
| 21 | NA | NA | 186 (35.2) | 300 (36.4) |
| 22 | NA | NA | 172 (32.6) | 294 (35.7) |
| 23 | NA | NA | 75 (14.2) | 120 (14.6) |
| 24 | NA | NA | 10 (1.9) | 23 (2.8) |
| χ2 test | P=0.043 | |||
| Logistic regression | P=0.025 | |||
Abbreviations: FLG, filaggrin; NA, not applicable.
Total copy number denotes the sum of the number of repeats on each allele in an individual showing FLG wild-type genotype at the four prevalent null mutations. The FLG and copy number allelic variants each did not show a significant deviation from Hardy–Weinberg equilibrium (P>0.05) in the control population.