Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa

dc.contributor.author	Γιατράκου, Σοφία	el
dc.contributor.author	Huse, Klaus	en
dc.contributor.author	Κάννη, Θεοδώρα Γ.	el
dc.contributor.author	Τζανετάκου, Βασιλική Ν.	el
dc.contributor.author	Kramer, Marcel	en
dc.date.accessioned	2015-05-18T19:23:16Z
dc.date.available	2015-05-18T19:23:16Z
dc.date.issued	2015-05-18
dc.identifier.uri	http://hdl.handle.net/11400/10701
dc.rights	Αναφορά Δημιουργού-Μη Εμπορική Χρήση-Όχι Παράγωγα Έργα 3.0 Ηνωμένες Πολιτείες	*
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/3.0/us/	*
dc.source	http://www.sciencedirect.com/science/article/pii/S1043466613001105#	el
dc.subject	single nucleotide polymorphism
dc.subject	Interleukin-12
dc.subject	Hidradenitis suppurativa
dc.subject	Πολυμορφισμός νουκλεοτιδίου
dc.subject	Ιντερλευκίνη-12
dc.subject	Hurley III stage
dc.subject	Στάδιο Hurley ΙΙΙ
dc.subject	IL12RB1
dc.title	Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa	en
heal.type	journalArticle
heal.classification	Medicine
heal.classification	Internal medicine
heal.classification	Ιατρική
heal.classification	Εσωτερική παθολογία
heal.classificationURI	http://id.loc.gov/authorities/subjects/sh00006614
heal.classificationURI	http://id.loc.gov/authorities/subjects/sh85067347
heal.classificationURI	N/A-Ιατρική
heal.classificationURI	N/A-Εσωτερική παθολογία
heal.keywordURI	http://lod.nal.usda.gov/42641
heal.keywordURI	http://id.loc.gov/authorities/subjects/sh96009262
heal.contributorName	Γκρεκ, Ιωάννα	el
heal.contributorName	Παπαδαυίδ, Ευαγγελία	el
heal.contributorName	Κατούλης, Αλέξανδρος	el
heal.contributorName	Σταυριανέας, Νικόλαος	el
heal.contributorName	Nothnagel, Michael	en
heal.contributorName	Platzer, Matthias	en
heal.contributorName	Bauer, Michael	en
heal.contributorName	Γιαμαρέλος-Μπουρμπούλης, Ευάγγελος Ι.	el
heal.identifier.secondary	doi:10.1016/j.cyto.2013.03.008
heal.language	en
heal.access	campus
heal.recordProvider	Σχολή Επαγγελμάτων Υγείας και Πρόνοιας. Τμήμα Δημόσιας Υγείας και Κοινοτικής Υγείας. Κατεύθυνση Δημόσιας Υγείας (Δημόσιας Υγιεινής)	el
heal.publicationDate	2013-05
heal.bibliographicCitation	Giatrakou, S., Huse, K., Kanni, T., Tzanetakou, V., Kramer, M., et.al. (2013). Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa. "Cytokine", 62(2), May 2013. pp. 297–301. Available from: http://www.sciencedirect.com/science/article/pii/S1043466613001105#. [Accessed 01/04/2013]	en
heal.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.	en
heal.journalName	Cytokine	en
heal.journalType	peer-reviewed
heal.fullTextAvailability	true