Increased frequency of Ig heavy-chain HS1,2-A enhancer *2 allele in dermatitis herpetiformis, plaque psoriasis, and psoriatic arthritis

J Invest Dermatol. 2008 Aug;128(8):1920-4. doi: 10.1038/jid.2008.40. Epub 2008 Mar 6.


The enhancer DNase-hypersensitive region 1,2 (HS1,2), a member of the Ig heavy-chain 3' regulatory region (3'RR) cluster, is active in human B cells transfected with reporter genes and in mouse is activated in late maturation. HS1,2-A contains binding sites for several transcription factors. There are four known alleles, that is, (*)1, (*)2, (*)3, and (*)4, which differ in their lengths in transcription factor binding. We showed that in celiac disease the frequency of the (*)2 allele is increased. Both dermatitis herpetiformis (DH) and psoriasis can be associated with different frequencies with celiac disease. Thus, we further investigate the frequency of allele (*)2 in DH, plaque psoriatic, and psoriatic arthritis patients. HS1,2-A allele frequencies were investigated in 37 DH, 61 plaque psoriatic, 28 psoriatic arthritis patients, and 265 healthy donors, age- and sex-matched, from the same geographical area. The frequency of the (*)2 allele changes from 0.39 in controls to 0.63 in DH, 0.59 in plaque psoriasis and 0.75 in psoriatic arthritis (P between 10(-4)-10(-5)). Our data evidence an increased frequency of the (*)2 allele of HS1,2-A in these cutaneous immune-related disorders. We suggest a related genetic predisposition in these pathogeneses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles*
  • Arthritis, Psoriatic / genetics*
  • Base Sequence
  • Case-Control Studies
  • Dermatitis Herpetiformis / genetics*
  • Enhancer Elements, Genetic / genetics*
  • Female
  • Gene Frequency / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Psoriasis / genetics*


  • HS1,2-A enhancer protein, human
  • Immunoglobulin Heavy Chains