1. ¹Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
2. ²First Department of Medicine, Hokkaido University Graduate School of Medicine, Sapporo, Japan
3. ³Genetic Laboratory, Sapporo, Japan

Correspondence: Dr T Shimizu, Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita-ku, Kita-15, Nishi 7, Sapporo 060-8638, Japan. E-mail: michiki@med.hokudai.ac.jp

Received 11 January 2005; Revised 14 February 2005; Accepted 14 February 2005; Published online 7 April 2005.

Abstract

We have demonstrated that serum macrophage migration inhibitory factor (MIF) was significantly elevated in patients with extensive alopecia areata (AA). Recently, functional polymorphisms have been identified in the MIF promoter region. To address the functional and prognostic relevance of the -173G/C and -794[CATT]_5–8 repeat polymorphisms in MIF genes in patients with extensive AA, 113 patients with extensive AA and 194 healthy controls were genotyped. We found that MIF-173^*C was a risk factor for early onset (<20 years) of extensive AA (odds ratio for GC heterozygotes with -173G/C was 4.88 (95% CI, 2.04–11.8), P=0.00038; odds ratio for CC homozygotes with -173G/C was 10.42 (95% CI, 2.56–43.5), P=0.0011). We found no statistically significant differences in the genotype frequencies of the -794[CATT]_5–8 repeat polymorphism and extensive AA. These results suggest that polymorphisms within the MIF-173^*C allele confer an increased risk of susceptibility to the extensive forms of AA, especially with an early onset of disease. MIF is therefore suggested to be closely implicated in the pathogenesis of the more extensive forms of AA.