@article{e7ad6c58a4074fd29fefe3444323e98d,
title = "Novel genes in human asthma based on a mouse model of allergic airway inflammation and human investigations",
abstract = "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 RT 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=7×10-5) in SCIN and 0.56 (0.42-0.76; P=1.2×10-4) 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. {\textcopyright} The Korean Academy of Asthma, Allergy and Clinical Immunology. The Korean Academy of Pediatric Allergy and Respiratory Disease.",
keywords = "Animal, Asthma, Child, Disease model, Genetic association studies, gene expression, Sputum, ovalbumin, peptides and proteins, peroxisome proliferator activated receptor gamma coactivator 1beta, protein ITLN1, protein SCIN, unclassified drug, allele, allergic airway inflammation, allergic asthma, animal experiment, animal model, Article, child, controlled study, female, gene expression, gene linkage disequilibrium, genetic association, genetic variability, genotype, heterozygote, human, human genome, major clinical study, male, microarray analysis, mouse, nonhuman, nucleotide sequence, reverse transcription polymerase chain reaction, single nucleotide polymorphism, sputum, statistical significance",
author = "G. Temesi and V. Vir{\'a}g and {\'E}. Hadadi and I. Ungv{\'a}ri and L.E. Fodor and A. Bikov and A. Nagy and G. G{\'a}lffy and L. Tam{\'a}si and I. Horv{\'a}th and A. Kiss and G. Hull{\'a}m and A. G{\'e}zsi and P. S{\'a}rk{\"o}zy and P. Antal and E. Buz{\'a}s and C. Szalai",
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year = "2014",
doi = "10.4168/aair.2014.6.6.496",
language = "English",
volume = "6",
pages = "496--503",
journal = "Allergy, Asthma and Immunology Research",
issn = "2092-7355",
publisher = "Korean Academy of Asthma, Allergy and Clinical Immunology",
number = "6",
}
