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Association Analysis of TEC Polymorphisms with Aspirin-Exacerbated Respiratory Disease in a Korean Population.

ABSTRACT: The tyrosine-protein kinase Tec (TEC) is a member of non-receptor tyrosine kinases and has critical roles in cell signaling transmission, calcium mobilization, gene expression, and transformation. TEC is also involved in various immune responses, such as mast cell activation. Therefore, we hypothesized that TEC polymorphisms might be involved in aspirin-exacerbated respiratory disease (AERD) pathogenesis. We genotyped 38 TEC single nucleotide polymorphisms in a total of 592 subjects, which comprised 163 AERD cases and 429 aspirin-tolerant asthma controls. Logistic regression analysis was performed to examine the associations between TEC polymorphisms and the risk of AERD in a Korean population. The results revealed that TEC polymorphisms and major haplotypes were not associated with the risk of AERD. In another regression analysis for the fall rate of forced expiratory volume in 1 second (FEV1) by aspirin provocation, two variations (rs7664091 and rs12500534) and one haplotype (TEC_BL2_ht4) showed nominal associations with FEV1 decline (p = 0.03-0.04). However, the association signals were not retained after performing corrections for multiple testing. Despite TEC playing an important role in immune responses, the results from the present study suggest that TEC polymorphisms do not affect AERD susceptibility. Findings from the present study might contribute to the genetic etiology of AERD pathogenesis.

SUBMITTER: Lee JS

PROVIDER: S-EPMC4099349 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature

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Association Analysis of TEC Polymorphisms with Aspirin-Exacerbated Respiratory Disease in a Korean Population.

Lee Jin Sol JS Bae Joon Seol JS Park Byung-Lae BL Cheong Hyun Sub HS Kim Jeong-Hyun JH Kim Jason Yongha JY Namgoong Suhg S Kim Ji-On JO Park Choon-Sik CS Shin Hyoung Doo HD

Genomics & informatics 20140630 2

The tyrosine-protein kinase Tec (TEC) is a member of non-receptor tyrosine kinases and has critical roles in cell signaling transmission, calcium mobilization, gene expression, and transformation. TEC is also involved in various immune responses, such as mast cell activation. Therefore, we hypothesized that TEC polymorphisms might be involved in aspirin-exacerbated respiratory disease (AERD) pathogenesis. We genotyped 38 TEC single nucleotide polymorphisms in a total of 592 subjects, which compr ...[more]

PMID: 25031568

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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 TEC Polymorphisms with Aspirin-Exacerbated Respiratory Disease in a Korean Population.

Publications

Association Analysis of TEC Polymorphisms with Aspirin-Exacerbated Respiratory Disease in a Korean Population.

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