Novel genes in Human Asthma Based on a Mouse Model of Allergic Airway Inflammation and Human Investigations

被引：14

作者：

Temesi, Gergely ^{[1
]}

Virag, Viktor ^{[1
]}

Hadadi, Eva ^{[1
,3
]}

Ungvari, Ildiko ^{[1
]}

Fodor, Lili E. ^{[1
]}

Bikov, Andras ^{[2
]}

Nagy, Adrienne ^{[4
]}

Galffy, Gabriella ^{[2
]}

Tamasi, Lilla ^{[2
]}

Horvath, Ildiko ^{[2
,5
]}

Kiss, Andras ^{[4
]}

Hullam, Gabor ^{[6
]}

Gezsi, Andras ^{[1
]}

Sarkoezy, Peter ^{[6
]}

Antal, Peter ^{[6
]}

Buzas, Edit ^{[1
]}

Szalai, Csaba ^{[1
,4
,7
]}

机构：

[1] Semmelweis Univ, Dept Genet Cell & Immunobiol, H-1089 Budapest, Hungary

[2] Semmelweis Univ, Dept Pulmonol, H-1089 Budapest, Hungary

[3] Univ Sheffield, Dept Cardiovasc Sci, Sheffield, S Yorkshire, England

[4] Heim Pal Children Hosp, Budapest, Hungary

[5] Minist Natl Resources, Budapest, Hungary

[6] Univ Technol & Econ, Dept Measurement & Informat Syst, Budapest, Hungary

[7] Csertex Res Lab, Budapest, Hungary

来源：

ALLERGY ASTHMA & IMMUNOLOGY RESEARCH | 2014年 / 6卷 / 06期

基金：

匈牙利科学研究基金会;

关键词：

Asthma; child; genetic association studies; gene expression; sputum; disease model; animal; EXPRESSION; PNEUMONIAE; CONSERVATION; INFECTION; GENETICS; REVEALS; GAMMA;

D O I：

10.4168/aair.2014.6.6.496

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：496 / 503

页数：8

共 34 条

[1] Haploview: analysis and visualization of LD and haplotype maps [J].