title: Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa.
abstract: Antigen presentation in chronic skin disorders is mediated through the interleukin (IL)-12/IL-23 pathway and, hence, through the IL-12 receptor. Recent evidence suggesting dysregulated antigen presentation in skin lesions of hidradenitis suppurativa (HS) led to investigate the role of single nucleotide polymorphisms (SNPs) of the gene IL-12RB1 coding for the IL12-Rβ1 receptor subunit. Genomic DNA was isolated from 139 patients and 113 healthy controls; nine SNPs in the transcribed region of IL12RB1 were genotyped. No significant differences of genotype and allele frequencies were found between the two groups. Two common haplotypes were recognized, namely h1 and h2. Carriage of h2 related with minor frequency alleles was associated with a greater risk for the acquisition of Hurley III disease stage and with the involvement of a greater number of skin areas. Patients with the h1 haplotype presented disease at an older age. This is the genetic study enrolling the largest number of patients with HS to date. Although SNPs of IL12RB1 do not seem to convey genetic predisposition, they are associated directly with the phenotype of the disease.
authors.affiliation: 2nd Department of Dermatology and Venereology, University of Athens, Medical School, Athens, Greece.
authors.forename: Sophia
authors.initials: S
authors.lastname: Giatrakos
authors.forename: Klaus
authors.initials: K
authors.lastname: Huse
authors.forename: Theodora
authors.initials: T
authors.lastname: Kanni
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Tzanetakou
authors.forename: Marcel
authors.initials: M
authors.lastname: Kramer
authors.forename: Ioanna
authors.initials: I
authors.lastname: Grech
authors.forename: Evangelia
authors.initials: E
authors.lastname: Papadavid
authors.forename: Alexandros
authors.initials: A
authors.lastname: Katoulis
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Stavrianeas
authors.forename: Michael
authors.initials: M
authors.lastname: Nothnagel
authors.forename: Matthias
authors.initials: M
authors.lastname: Platzer
authors.forename: Michael
authors.initials: M
authors.lastname: Bauer
authors.forename: Evangelos J
authors.initials: EJ
authors.lastname: Giamarellos-Bourboulis
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D017497:Hidradenitis Suppurativa / Q000235:genetics*; D006801:Humans; D053711:Interleukin-12 Receptor beta 1 Subunit / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D053711:Interleukin-12 Receptor beta 1 Subunit