期刊
ALLERGY ASTHMA & IMMUNOLOGY RESEARCH
卷 6, 期 6, 页码 496-503出版社
KOREAN ACAD ASTHMA ALLERGY & CLINICAL IMMUNOLOGY
DOI: 10.4168/aair.2014.6.6.496
关键词
Asthma; child; genetic association studies; gene expression; sputum; disease model; animal
资金
- OTKA (Hungarian Scientific Research Fund) [K81941]
- ETT (Ministry of Health, Hungary) [415/2009]
- OTKAPD (Hungarian Scientific Research Fund) [76348]
- Bolyai Grant (Hungarian Academy of Science)
- NKTH (National Research and Technology) [TECH_08-A1/2-2008-0120]
- New Szechenyi Plan [TAMOP-4.2.1/B-09/1/KMR-2010-0002]
- OTKA
- NKTH
- ETT
- Bolyai Grant
Purpose: Based on a previous gene expression study in a mouse model of asthma, we selected 60 candidate genes and investigated their possible roles in human asthma. Methods: In these candidate genes, 90 SNPs were genotyped using MassARRAY technology from 311 asthmatic children and 360 healthy controls of the Hungarian (Caucasian) population. Moreover, gene expression levels were measured by RI PCR in the induced sputum of 13 asthmatics and 10 control individuals. t-tests, chi-square tests, and logistic regression were carried out in order to assess associations of SNP frequency and expression level with asthma. Permutation tests were performed to account for multiple hypothesis testing. Results: The frequency of 4 SNPs in 2 genes differed significantly between asthmatic and control subjects: SNPs rs2240572, rs2240571, rs3735222 in gene SCIN, and rs32588 in gene PPARGC1B. Carriers of the minor alleles had reduced risk of asthma with an odds ratio of 0.64 (0.51-0.80; P=7 x10(-5)) in SCIN and 0.56 (0.42-0.76; P=1.2x10(-4)) in PPARGC1B. The expression levels of SCIN, PPARGC1B and ITLN1 genes were significantly lower in the sputum of asthmatics. Conclusions: Three potentially novel asthma-associated genes were identified based on mouse experiments and human studies.
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