Background Atopic eczema (AE) (OMIM %603165) is the most common chronic inflammatory skin disease characterized by xerosis, pruritus, and erythematous lesions with increased transepidermal water loss. It's a complex disease due to the interaction between environmental and genetics factors. To date, different loci have been related to the disease. Objectives To verify the association, between AE and rs479844, rs2164983, and rs2897442, target for OVOLI (11q13), ACTL9 (19p13.2), and in KIF3A (5q31) genes in the Italian population. Recently, these SNPs have been validated as associated to the disease. Methods A case-control study testing a cohort of 359 AE cases and 778 controls. Results We confirmed the association between rs2897442 in KIF3A gene and the disease at both allele and genotype level (P-value: 4·8 × 10-4 and P-value: 6·3 × 10-4, respectively). The C allele of the SNP showed an Odds Ratio (OR) of 1·46 (95% CI 1·18-1·82), moreover the CC genotype achieved an OR of 2·77 (95% CI 1·66-4·61). We failed to reveal association between AE and the other two SNPs tested. Conclusions Our study indicated KIF3A as a novel gene implicated in the development of AE in the Italian population.
ASJC Scopus subject areas