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Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma.

ABSTRACT: We previously reported that the ILVBL gene on chromosome 19p13.1 was associated with the risk for aspirin-exacerbated respiratory disease (AERD) and the percent decline of forced expired volume in one second (FEV1) after an oral aspirin challenge test. In this study, we confirmed the association between polymorphisms and haplotypes of the ILVBL gene and the risk for AERD and its phenotype.We recruited 141 AERD and 995 aspirin-tolerant asthmatic (ATA) subjects. All study subjects underwent an oral aspirin challenge (OAC). Nine single nucleotide polymorphisms (SNPs) with minor allele frequencies above 0.05, which were present in the region from 2 kb upstream to 0.5 kb downstream of ILVBL in Asian populations, were selected and genotyped.In an allelic association analysis, seven of nine SNPs were significantly associated with the risk for AERD after correction for multiple comparisons. In a codominant model, the five SNPs making up block2 (rs2240299, rs7507755, rs1468198, rs2074261, and rs13301) showed significant associations with the risk for AERD (corrected P?=?0.001-0.004, OR?=?0.59-0.64). Rs1468198 was also significantly associated with the percent decline in FEV1 in OAC tests after correction for multiple comparisons in the codominant model (corrected P?=?0.033), but the other four SNPs in hapblock2 were not.To the best of our knowledge, this is the first report of an association between SNPs on ILVBL and AERD. SNPs on ILVBL could be promising genetic markers of this condition.

SUBMITTER: Chang HS

PROVIDER: S-EPMC5732499 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma.

Chang Hun Soo HS Park Jong Sook JS Lee Ho Sung HS Lyu Jiwon J Son Ji-Hye JH Choi Inseon S IS Shin Hyoung Doo HD Park Choon-Sik CS

BMC pulmonary medicine 20171216 1

<h4>Background</h4>We previously reported that the ILVBL gene on chromosome 19p13.1 was associated with the risk for aspirin-exacerbated respiratory disease (AERD) and the percent decline of forced expired volume in one second (FEV1) after an oral aspirin challenge test. In this study, we confirmed the association between polymorphisms and haplotypes of the ILVBL gene and the risk for AERD and its phenotype.<h4>Methods</h4>We recruited 141 AERD and 995 aspirin-tolerant asthmatic (ATA) subjects. ...[more]

PMID: 29246216

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Project description:Background Aspirin exacerbated respiratory disease (AERD) is a syndrome characterized by chronic hyperplastic rhinosinusitis, nasal polyposis, asthma and aspirin sensitivity. The mechanisms by which produce these manifestations of intolerance are not fully defined, the current research involve alterations in the metabolism of arachidonic acid, cyclooxygenase 1 (COX-1) inhibition and its deviation from substrate to the lipoxygenase (LO) pathway, inducing increased synthesis of leukotrienes (LT). Biological plausibility of this fact has led to the search for polymorphisms in genes responsible for LT synthesis however others factors such as genetics polymorphisms in pro-inflammatory cytokines like, IL1B and IL8 could be associated. Methods 78 patients with AERD, 135 aspirin-tolerant asthma (ATA) and 134 healthy control subjects participated. All participants who underwent a simple spirometry, methacholine challenge and nasal challenge with Lysine-aspirin (L-ASA), both tests performed according to international guidelines. Peripheral blood was drawn by venipuncture, genomic DNA was obtained using the commercial BDtract DNA isolation kit. We selected 2 polymorphisms in 2 genes related to chronic inflammation rs16944 in IL1B, and rs4073 in IL8, Allelic discrimination of SNPs was performed by Real Time PCR (PCR-RT) on a 7300 Real Time PCR Systems. Statistical analysis was performed between groups of cases (AERD and ATA) versus control group with Epi-info v.6.04 by χ2 test to identify the difference between the allele and genotype frequencies of each polymorphism made, considering a significant P value <0.05, in addition to the calculation of odds ratios and confidence intervals of 95%. Results We find no association between IL1B (rs16944) to GG and GA genotypes in ATA patients versus control group neither AERD versus control group. Interestingly, the AA genotype showed increased frequency in the AERD patients versus the ATA patients (FG = 0.19 versus 0.07), this association remained significant (P = 0.018, OR 2.98, CI, 1.17-7.82). Conclusions This is the first observation that IL1B polymorphisms are involved in AERD, suggest that patients carrying out the IL1B-511 polymorphism (rs16944 AA genotype) may show enhanced susceptibility to develop AERD.

Dataset Information

Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma.

Publications

Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma.

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