Genetic variants of the proopiomelanocortin (POMC) gene: association with psoriasis susceptibility

BIENERTOVÁ VAŠKŮ, Julie, Vladimír VAŠKŮ, Anna VAŠKŮ and Petr BIENERT. Genetic variants of the proopiomelanocortin (POMC) gene: association with psoriasis susceptibility. In Journal of Investigative Dermatology. 2009th ed. USA: Nature Publishing Group, Macmillan Publishers Ltd, 2009, p. S51-51, 1 pp. ISSN 0022-202X.

Basic information

• Original name: Genetic variants of the proopiomelanocortin (POMC) gene: association with psoriasis susceptibility
• Name in Czech: Genetické varianty v genu pro proopiomelanokortin (POMC): asociace s vnímavostí vůči psoriáze
• Authors: BIENERTOVÁ VAŠKŮ, Julie, Vladimír VAŠKŮ, Anna VAŠKŮ and Petr BIENERT.
• Edition: 2009. vyd. USA, Journal of Investigative Dermatology, p. S51-51, 1 pp. 2009.
• Publisher: Nature Publishing Group, Macmillan Publishers Ltd

Other information

• Original language: English
• Type of outcome: Proceedings paper
• Field of Study: 30216 Dermatology and venereal diseases
• Country of publisher: United States of America
• Confidentiality degree: is not subject to a state or trade secret
• Impact factor: Impact factor: 5.543
• Organization unit: Faculty of Medicine
• ISSN: 0022-202X
• UT WoS: 000269264100302
• Keywords (in Czech): proopiomelanokortin; gen; psoriáza; asociační studie; polymorfismus
• Keywords in English: proopiomelanocortin; gene; psoriasis; association study; polymorphism
• Tags: International impact, Reviewed

Abstract

Psychological distress has been for long known to substantially aggravate inflammatory skin diseases such as psoriasis. Alterations in functioning of the Hypothalamic-Pituitary-Adrenal (HPA) axis, where POMC plays the crucial role, have been previously suggested to be involved in development of psoriasis. However, there is little evidence of impaired response of the HPA axis on environmental stimuli due different individual genetic background. Therefore, the aim of the study was to investigate possible effects of RsaI (rs3754860) and C1032G (rs1009388) polymorphisms in the non-coding regions of POMC gene on psoriasis and its related factors. We examined the total of 433 patients with psoriasis vulgaris and 403 healthy controls of similar age and gender distribution. No statistically significant differences were observed when genotype frequencies or allele distributions of the psoriatic group were compared to those of healthy controls. In the multivariate modeling, the RsaI polymorphism was significantly associated with the early onset of the disease (beta = -0.10, P = 0.04) and with the staging of the disease (beta = -0.25, P = 0.00003); whereas the lowest staging was associated to the "--" genotype. Moreover, RsaI was also associated with the personal history of allergy (beta= 0.15, P = 0.02), whereas the ++ genotype represented the risk variant for personal allergy history. Furthermore, common haplotypes in POMC gene were identified, with no case-control differences observed. The "-G" haplotype was significantly associated with the highest rate of recurrent tonsillitis in psoriasis patients (beta= 0.13, P = 0.005). To conclude, our results indicate that the investigated POMC gene variants could act as specific risk factors for psoriasis-related anamnestic factors, relevant for susceptibility to psoriasis in general.

Abstract (in Czech)

Je známo, že psychologický stres významně prohlubuje příznaky zánětlivých kožních onemocnění, jako je psoriáza. Již dříve bylo postulováno, že zásadní roli v patogenezi psoriázy hraje hypotalamo-hypofyzárně-adrenální osa (HPA), ve které patří klíčové postavení proopiomelanokortinu. V této studii jsme zkoumali dva v populaci četné polymorfismy v genu pro proopiomelanokortin u 433 pacientů s psoriázou, kteří byli srovnáváni s 403 zdravými jedinci podobného věku a stejného pohlaví. Na základě našich výsledků lze uzavřít, že zkoumané varianty POMC genu se mohou chovat jako specifické rizikové faktory pro rozvoj prosiázy, které jsou i obecně relevantní pro modulaci jejího průběhu.