Alopecia areata (AA) is a T cell mediated disease directed against hair fol
licles that results in bald patches. It can range in severity from patchy (
AA), to total scalp hair loss (alopecia totalis; AT) or body hair loss (alo
pecia universalis; AU). We have previously shown that HLA-DR4 and DR11 as w
ell as HLA-DQ*03 alleles are increased in unrelated AA patients compared wi
th controls. To study whether class II HLA alleles are linked to AA, we inv
estigated 81 extended families that included 192 AA patients, including 89
with AT or AU. We also performed the transmission disequilibrium test (TDT)
in 143 nuclear families. Results showed an association between alleles of
HLA-DQB (p=0.014) and HLA-DR (p=0.010). We also performed linkage analysis
in 75 families whose members' genomic DNA were available for HLA typing. Re
sults from this analysis support linkage between AA and class II loci with
a maximal LOD score of 2.42 to HLA-DQB at 5% recombination, and with a maxi
mal LOD score of 2.34 to HLA-DR at 0% recombination. There was an increased
incidence of atopic dermatitis and autoimmune thyroiditis in families. AA
appears to be a class II HLA restricted organ specific immune response to d
ie hair follicle.