Background Atopic dermatitis (AD) is caused by genetic and environmental factors that interact to determine disease susceptibility and severity. Several lines of evidence suggest that the IL-4 gene and the IL-4-receptor alpha (IL-4Rα) gene are involved in the development of atopic diseases.
Objective The objective of this study was to evaluate the possible involvement of the chromosomal regions 5q31 and 16p12, which include the genes coding for the IL-4 and the IL-4Rα in AD.
Methods We conducted linkage analysis and association studies using the microsatellite markers D16S298 and D16S403 and a single nucleotide polymorphism in the promoter region of the IL-4 gene (− 590C/T) in 406 Swedish families with at least two siblings affected with AD, in total 1514 individuals.
Results and Conclusion We report linkage (P < 0.005) to the − 590C/T polymorphism in the promoter of the IL-4 gene for the semiquantitative trait severity score of AD. Neither linkage nor association was found to the IL-4Rα chromosomal region.