The role of analysis of EVER2 haplotypes in actinic keratosis

Introduction. Polymorphisms of EVER genes are related to increased risk of actinic keratosis (AK), squamous skin cancers (SCC) and cervical cancer.

Objective. The aim of this study was to analyze the haplotypes of the EVER2 gene in 65 subjects with ≥ 5 actinic keratoses and in 274 controls. The correlations between EVER2 haplotype and selected clinical parameters in patients with actinic keratosis were also evaluated.

Material and methods. The analysis involved polymorphisms –917A>T (rs7208422), –988-4G>T (rs62079073) and –1107G>A (rs12452890), which obtained statistically significant results in previous published studies of patients with actinic keratosis and squamous skin cancers. The full blood samples of patients and controls were genotyped using real-time polymerase chain reaction with reagents from Applied Biosystems.

Results. In a group of patients with AK and the controls the most frequent haplotypes were AGG and TGA. Haplotype TG (–917A>T and –988-4G>T) containing the promoter T allele of 917A>T was more frequent in patients who had AK onset before the age of 70 years (0.6117 vs. 0.417; p = 0.029) and with more extensive skin lesions (0.6085 vs. 0.414; p = 0.029). Haplotype TA (–988-4G>T and –1107G>A), containing the protective G allele of –988-4G>T, was observed only in patients with AK. There was no presence of haplotype TA in patients with coexisting SCC (the result was near statistical significance, p = 0.059).

Conclusions. The results of the study suggest the necessity of analysis of haplotypes in evaluation of predisposition to precancerous skin lesions and skin cancers.