Vojko Berce (Author), Uroš Potočnik (Author), Katja Repnik (Author)

Abstract

Izhodišča: Astma je najpogostejša resna kronična bolezen otrok. Pri astmi gre za vnetje v dihalih neznane etiologije. Kot pri večini kompleksnih bolezni so tudi pri patogenezi astme udeleženi genetski dejavniki in okolje. Z astmo povezujejo več kot 100 kandidatnih genov, vendar je prispevek vsakega od njih v patogenezi astme verjetno majhen. Metode: V našo genetsko študijo smo vključili 111 otrok z blago ali zmerno vztrajajočo astmo, starih od 5 do 18 let. 76 otrok je imelo atopijsko astmo in 35 neatopijsko. Pri bolnikih smo izmerili osnovne klinične in laboratorijske parametre. V kontrolni skupini je bilo 77 zdravih otrok. Opravili smo genotipizacijo za polimorfizme CCR5-delta32, IL4 C-33T in NOD2 R702W. S pomočjo testa χ 2 in Fischerjevega eksaktnega testa smo primerjali alelne frekvence med skupinami. S t-testom za dva neodvisna vzorca pa smo ugotavljali vpliv genotipa na nekatere klinične in laboratorijske parametre. Rezultati: Bolniki z neatopijsko astmo so imeli značilno nižjo (1,39 %) frekvenco alela delta32 v genu za CCR5, kot je v kontrolni skupini (10 %), p = 0,016. Pri ostalih dveh polimorfizmih pa ni bilo statistično značilnih razlik v pogostnosti alelov med bolniki in kontrolami. Pri nobenem od testiranih polimorfizmov pa nismo ugotovili vpliva genotipa na klinične in laboratorijske parametre. Zaključki: Mutacija delta32 v genu za CCR5 ščiti pred neatopijsko astmo. Polimorfizma C-33T v genu za IL4 in R702W v genu za NOD2 pa ne vplivata na pogostnost astme. Pri nobenem od testiranih polimorfizmov ne ugotavljamo povezave s kliničnimi ali laboratorijskimi para- metri. Rezultati naše študije omogočajo nova spoznanja v patogenezi astme in prispevajo pri razvoju novih strategij obravnave astme.

Keywords

otroška astma;genetika;polimorfizmi;patogeneza;

Data

Language: Slovenian
Year of publishing:
Typology: 1.01 - Original Scientific Article
Organization: UM FKKT - Faculty of Chemistry and Chemical Engineering
Publisher: Slovensko zdravniško društvo
UDC: 577.21:616.248
COBISS: 12713494 Link will open in a new window
ISSN: 1318-0347
Parent publication: Zdravniški vestnik
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Other data

Secondary language: English
Secondary title: Association of some polymorphisms in IL4, NOD2 and CCR5 genes with childhood asthma
Secondary abstract: Background: Asthma is most common serious chronic disease of childhood. Asthma is inflammatory disease of respiratory tract of unknown etiology. As is usual in most complex diseases, also in asthma genetic and environmental factors participate together. More than 100 candidate genes are connected with asthma for now, but each of them has only small contribution in the pathogenesis of the disease. Methods: We included 111 children with mild or moderate persistent asthma, aged between 5 and 18 years. 76 of them were atopics and 35 had nonatopic asthma. We measured some basic clinical and laboratory parameters. Data from 77 healthy children served as a control group. We genotyped polymorphisms CCR5-delta32, IL4 C-33T and NOD2 R702W. We compared allelic frequencies between groups with χ 2 and Fischer’s exact test. With t test for two independent samples we studied influence of genotype on clinical and laboratory parameters. Results: Patients with nonatopic asthma had significantly lower frequency of CCR5-delta32 allele (1.39 %), compared with control group (10 %), p = 0.016. In other two tested polymorphisms we didn’t found any significant differences in allelic frequencies between asthmatics and controls. We revealed no influence of genotype on clinical and laboratory parameters. Conclusions: Delta32 mutation in CCR5 gene protects against nonatopic asthma. Polymorphisms C-33T in IL4 gene and R702W in NOD2 gene are not associated with asthma. We didn’t detect any influence of tested polymorphisms on clinical and laboratory parameters. Results of our study offer new insights into asthma pathogenesis and could contribute in the develop- ment of new strategies of asthma management.
Secondary keywords: childhood asthma;genetics;polymorphisms;pathogenesis;
URN: URN:NBN:SI
Type (COBISS): Scientific work
Pages: str. 585-591
Volume: ǂLetn. ǂ77
Issue: ǂšt. ǂ9
Chronology: 2008
ID: 1735568