Genotype-phenotype correlations in severe acne in a han Chinese population

Two novel susceptibility gene loci (1q24.2 and 11p11.2) for severe acne have been identified in a genome-wide association study of a Han Chinese population.

The current study investigated the relationships of these gene loci with clinical phenotypes, including onset age, atrophic scarring, hypertrophic scarring and family history. Furthermore, we investigated the correlations between these four clinical phenotypes.

We used the χ2 test to compare the allele frequency among the different clinical phenotypes. We calculated Spearman's correlation coefficient to measure the relationship between the different clinical phenotypes.

We identified significant associations between the 11p11.2 locus and disease family history (p < 0.05). We also determined that hypertrophic scarring was moderately correlated with atrophic scarring (rs = 0.315).

This study suggests that the susceptibility gene locus 11p11.2 may contribute to the complex phenotypes of severe acne, particularly in cases of hereditary severe acne, whereas there are also correlations between the different phenotypes.