PMID- 20517665
OWN - NLM
STAT- MEDLINE
DCOM- 20101022
LR  - 20211020
IS  - 1613-7671 (Electronic)
IS  - 0043-5325 (Linking)
VI  - 122 Suppl 2
DP  - 2010 May
TI  - Association of Q551R polymorphism in the interleukin 4 receptor gene with 
      nonatopic asthma in Slovenian children.
PG  - 11-8
LID - 10.1007/s00508-010-1339-8 [doi]
AB  - BACKGROUND: Asthma is one of the most common chronic diseases of childhood and 
      results from the interaction of several genes and environmental influences. 
      Interleukin 4 (IL4) and its receptor IL4R have a central role in the regulation 
      of immunoglobulin E (IgE) production and thereby in the induction and maintenance 
      of allergy and asthma. The single nucleotide polymorphisms (SNPs) Q551R in the 
      IL4RA gene and C-33T in the IL4 gene probably influence IL4/IL4R pathway 
      signaling; however, findings in association studies exploring the role of these 
      two genes in asthma pathogenesis are contradictory. We have studied the 
      association of IL4RA Q551R and IL4 C-33T SNPs with asthma, asthma phenotypes, and 
      clinical and laboratory parameters. METHODS: The study group comprised 106 
      children aged between 5 and 18 years with mild or moderate persistent asthma: 78 
      children were atopic and 28 had nonatopic asthma. The children underwent allergy 
      and spirometry tests, a bronchoprovocation test with methacholine, measurement of 
      exhaled nitric oxide in expired air and genotyping for IL4RA Q551R and IL4 C-33T 
      SNPs. Genotype data from 89 nonatopic nonasthmatics served as a control group. 
      RESULTS: The frequency of the IL4RA Arg551 allele in the children with nonatopic 
      asthma was 7.1%, significantly lower than 21.9% in the control group (P = 0.01, 
      OR: 0.33, 95% CI: 0.12-0.87). Allelic and genotype frequencies in IL4 C-33T 
      polymorphism in the asthma group and the control group were not significantly 
      different. The mean value of total IgE in asthmatics with the IL4-33C allele was 
      556.0 IU/l, significantly higher than 371.6 IU/l in those with the T allele (P = 
      0.02). In an interaction study we did not find significant differences in the 
      frequencies of any combinations of IL4RA Q551R and IL4 C-33T alleles between 
      asthmatics and controls. CONCLUSIONS: The IL4RA Q551R SNP is associated with 
      nonatopic asthma in Slovenian children. This finding contributes to knowledge 
      about an important asthma phenotype pathogenesis and could serve in future 
      research into new strategies for asthma management.
FAU - Berce, Vojko
AU  - Berce V
AD  - Department of Pediatrics, General Hospital Murska Sobota, Murska Sobota, 
      Slovenia.
FAU - Potocnik, Uros
AU  - Potocnik U
LA  - eng
PT  - Journal Article
PL  - Austria
TA  - Wien Klin Wochenschr
JT  - Wiener klinische Wochenschrift
JID - 21620870R
RN  - 0 (IL4R protein, human)
RN  - 0 (Interleukin-4 Receptor alpha Subunit)
SB  - IM
MH  - Adolescent
MH  - *Alleles
MH  - Asthma/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Gene Frequency/genetics
MH  - Genetic Association Studies
MH  - Genetic Carrier Screening
MH  - Genotype
MH  - Humans
MH  - Interleukin-4 Receptor alpha Subunit/*genetics
MH  - Male
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Respiratory Hypersensitivity/genetics
MH  - Slovenia
EDAT- 2010/06/11 06:00
MHDA- 2010/10/23 06:00
CRDT- 2010/06/03 06:00
PHST- 2010/06/03 06:00 [entrez]
PHST- 2010/06/11 06:00 [pubmed]
PHST- 2010/10/23 06:00 [medline]
AID - 10.1007/s00508-010-1339-8 [doi]
PST - ppublish
SO  - Wien Klin Wochenschr. 2010 May;122 Suppl 2:11-8. doi: 10.1007/s00508-010-1339-8.