title: Immunoglobulin and HLA-DP genes contribute to the susceptibility to juvenile dermatitis herpetiformis.
abstract: HLA-DQ genes and gluten diet are the main factors involved in the pathogenesis of Dermatitis Herpetiformis (DH), as well as Coeliac Disease (CD). However other genetic factors are probably relevant, since about 10% of the patients with DH and CD lack the DQA1*0501/B1*0201 heterodimer while the majority of individuals presenting this genotype and also being exposed to gluten diets did not suffer from these diseases. To evaluate the role of other genes, 36 Northern Italian children with DH were analysed for DNA polymorphisms at HLA-DP and immunoglobulin (Ig) heavy chain loci. DPA1*0201 and DPB1*1301 frequencies were higher in patients than in controls (Pc = 0.0357 and Pc = 0.0273). With respect to immunoglobulin heavy chain restriction fragment length polymorphisms (RFLP), the 4.6 kb SacI RFLP at the switch alpha 2 gene was more frequent in patients (0.13) than in controls (0.019; Pc = 0.036). Moreover, rare alleles or duplications in the switch regions occurred more frequently in the patients than in the controls. These results support the hypothesis of a multifactorial inheritance of DH, the HLA and Ig constant heavy chain genes being some of the loci contributing to the susceptibility. In accordance with previous CD studies, these data also confirm that DP subregion is probably involved in the pathogenesis of DH.
authors.affiliation: Dipartimento di Genetica, University of Turin, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Mazzola
authors.forename: M
authors.initials: M
authors.lastname: Berrino
authors.forename: M
authors.initials: M
authors.lastname: Bersanti
authors.forename: S
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: N
authors.initials: N
authors.lastname: Cappello
authors.forename: A
authors.initials: A
authors.lastname: Bottaro
authors.forename: E S
authors.initials: ES
authors.lastname: Curtoni
authors.forename: P
authors.initials: P
authors.lastname: Fusco
authors.forename: M
authors.initials: M
authors.lastname: Vallati
authors.forename: S
authors.initials: S
authors.lastname: Bundino
mesh_terms: D000293:Adolescent; D000483:Alleles; D001483:Base Sequence; D002446:Celiac Disease / Q000209:etiology / Q000235:genetics / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D003874:Dermatitis Herpetiformis / Q000209:etiology / Q000235:genetics* / Q000276:immunology*; D005260:Female; D005787:Gene Frequency; D005803:Genes, Immunoglobulin; D005983:Glutens / Q000009:adverse effects; D006682:HLA-DP Antigens / Q000235:genetics*; D006801:Humans; D007134:Immunoglobulin Switch Region / Q000235:genetics; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data
chemical_list: D006682:HLA-DP Antigens; D005983:Glutens; D004247:DNA