title: Increased frequency of Ig heavy-chain HS1,2-A enhancer *2 allele in dermatitis herpetiformis, plaque psoriasis, and psoriatic arthritis.
abstract: 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.
authors.affiliation: Institute of Internal Medicine, Catholic University, Rome, Italy.
authors.forename: Rossella
authors.initials: R
authors.lastname: Cianci
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Giambra
authors.forename: Claudia
authors.initials: C
authors.lastname: Mattioli
authors.forename: Maria
authors.initials: M
authors.lastname: Esposito
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cammarota
authors.forename: Graziella
authors.initials: G
authors.lastname: Scibilia
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Magazzù
authors.forename: Ambrogio
authors.initials: A
authors.lastname: Orlando
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Sandri
authors.forename: Luca
authors.initials: L
authors.lastname: Bianchi
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Gasbarrini
authors.forename: Franco
authors.initials: F
authors.lastname: Pandolfi
authors.forename: Domenico
authors.initials: D
authors.lastname: Frezza
mesh_terms: D000328:Adult; D000483:Alleles; D015535:Arthritis, Psoriatic / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D003874:Dermatitis Herpetiformis / Q000235:genetics*; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D011565:Psoriasis / Q000235:genetics*
chemical_list: C530726:HS1,2-A enhancer protein, human; D007143:Immunoglobulin Heavy Chains