Table 1.
Genotyping results and Fisher's exact test to investigate the association between FLG null mutations and acne vulgaris in a case–control study
| Genotype1 |
||||||
|---|---|---|---|---|---|---|
| FLG null mutation | Acne vulgaris cases and unselected population controls |
AA | Aa | aa | Total2 | Fisher's exact test P-value |
| p.S406X | Cases | 279 | 0 | 0 | 279 | 0.524 |
| Controls | 438 | 2 | 0 | 440 | ||
|
| ||||||
| c.1249insG | Cases | 276 | 4 | 0 | 280 | 0.023 |
| Controls | 440 | 0 | 0 | 440 | ||
|
| ||||||
| c.2282del4 | Cases | 275 | 0 | 0 | 275 | 1.000 |
| Controls | 436 | 1 | 0 | 437 | ||
|
| ||||||
| c.3321delA | Cases | 277 | 4 | 0 | 281 | 0.582 |
| Controls | 439 | 10 | 0 | 440 | ||
|
| ||||||
| p.S1302X | Cases | 272 | 0 | 0 | 272 | 0.304 |
| Controls | 434 | 4 | 0 | 438 | ||
|
| ||||||
| p.S1515X | Cases | 275 | 1 | 0 | 276 | 1.000 |
| Controls | 438 | 2 | 0 | 440 | ||
|
| ||||||
| c.6834del53 | Cases | 280 | 1 | 0 | 281 | 0.390 |
| Controls | 440 | 0 | 0 | 440 | ||
|
| ||||||
| c.6950del8 | Cases | 278 | 3 | 0 | 281 | 1.000 |
| Controls | 436 | 4 | 0 | 440 | ||
|
| ||||||
| p.Q2417X | Cases | 278 | 2 | 0 | 280 | 0.151 |
| Controls | 440 | 0 | 0 | 440 | ||
|
| ||||||
| p.E2422X | Cases | 278 | 2 | 0 | 280 | 0.151 |
| Controls | 440 | 0 | 0 | 440 | ||
|
| ||||||
| c.7945delA | Cases | 274 | 2 | 0 | 276 | 0.562 |
| Controls | 439 | 1 | 0 | 440 | ||
|
| ||||||
| p.S2706X | Cases | 276 | 1 | 0 | 280 | 0.160 |
| Controls | 431 | 7 | 0 | 438 | ||
|
| ||||||
| c.8157delC3 | Cases | 278 | 1 | 0 | 279 | 0.388 |
| Controls | 440 | 0 | 0 | 440 | ||
|
| ||||||
| p.R4307X | Cases | 278 | 1 | 0 | 279 | 0.488 |
| Controls | 438 | 1 | 0 | 439 | ||
|
| ||||||
| Combined FLG null genotype | Cases | 235 | 21 | 0 | 256 | 0.783 |
| Controls | 402 | 31 | 1 | 434 | ||
AA, homozygous wild type for FLG null mutation; Aa, heterozygous for the stated FLG null mutation or, in the combined null genotype, any one of the screened mutations; aa, compound heterozygous (i.e., an individual having two different FLG null mutations). The rationale for generating this combined null genotype is based on the fact that each mutation results in premature termination of the profilaggrin molecule and hence absence of processed filaggrin (Sandilands et al., 2007).
The figures in the total column vary because of incomplete genotyping results; all available data have been used for optimal analysis of each individual variant, but the combined FLG null genotype data include only those individuals for whom all 14 genotype results are available.
Previously unreported FLG mutations.