Y. Nishio et al., Mutation and association analysis of the interferon regulatory factor 2 gene (IRF2) with atopic dermatitis, J HUM GENET, 46(11), 2001, pp. 664-667
Interferon regulatory factor 2 (IRF-2) is a member of a family of transcrip
tional factors involved in the modulation of cellular responses to interfer
ons (IFNs) and viral infection as well as in the regulation of cell growth
and transformation. Irf2 knockout mice show T helper 1 (Th1) cell developme
nt defect and spontaneous development of an inflammatory skin disease. To d
etermine if there are any mutations in IRF2 associated with development of
atopic dermatitis (AD), we screened for mutations in the 5' flanking and co
ding regions of IRF2 in AD patients and control subjects by single-strand c
onformational polymorphism (SSCP) analysis. We found three mutations in the
promoter region ([-829C >T, -830C >T], -684C >T, and -467G >A), one silent
mutation in exon 9 (921G >A), and a 10-bp deletion in the 3' untranslated
region (1739[ATCCC]8 >6). Among them, the -467G allele and the haplotype of
the -467G, 921A, and 1739(ATCCC)8 alleles were transmitted preferentially
to AD-affected children (P = 0.02 and P = 0.007, respectively). Our data su
ggest that IRF-2 plays some role in the development of AD in the Japanese p
opulation.