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Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population.

ABSTRACT: BACKGROUND: Aspirin-intolerant asthma (AIA) occurs in the lower and upper airways through excessive production of leukotrienes upon administration of non-steroidal anti-inflammatory drugs (NSAIDs). One of the three symptoms of AIA is nasal polyposis, a chronic inflammatory disease that is related to the function of calcium ion in recruitment of immune cells during airway inflammation. It has been implicated that bronchodilation in the airway is related to Ca(2+) regulation. The calcium channel, voltage-dependent, gamma subunit 6 (CACNG6) gene encodes a protein that stabilizes the calcium channel. METHODS: To study the associations between AIA and polymorphisms in CACNG6 gene, eight variants were genotyped in 102 AIA cases and 429 aspirin-tolerant asthma (ATA) controls. Logistic analyses were used to evaluate the associations of CACNG6 polymorphisms with AIA. RESULTS: Statistical analyses revealed that a single nucleotide polymorphism (SNP; rs192808C > T; P = 0.0004, Pcorr = 0.0029, OR = 2.88 in co-dominant model; P = 0.0005, Pcorr = 0.0036, OR = 2.99 in dominant model) in intron and a haplotype unique to this variant (CACNG6_BL1_ht6; P = 0.003, Pcorr = 0.02, OR = 2.57 in co-dominant model, P = 0.001, Pcorr = 0.0087, OR = 2.81 in dominant model) were significantly associated with the risk of AIA. CONCLUSIONS: Our results suggest that the CACNG6 variants might be associated with the risk of AIA in a Korean population.

SUBMITTER: Lee JS

PROVIDER: S-EPMC2954844 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population.

Lee Jin Sol JS Kim Jeong-Hyun JH Bae Joon Seol JS Kim Jason Yongha JY Park Tae Joon TJ Pasaje Charisse Flerida CF Park Byung-Lae BL Cheong Hyun Sub HS Uh Soo-Taek ST Park Jong-Sook JS Jang An-Soo AS Kim Mi-Kyeong MK Choi Inseon S IS Park Choon-Sik CS Shin Hyoung Doo HD

BMC medical genetics 20100923

<h4>Background</h4>Aspirin-intolerant asthma (AIA) occurs in the lower and upper airways through excessive production of leukotrienes upon administration of non-steroidal anti-inflammatory drugs (NSAIDs). One of the three symptoms of AIA is nasal polyposis, a chronic inflammatory disease that is related to the function of calcium ion in recruitment of immune cells during airway inflammation. It has been implicated that bronchodilation in the airway is related to Ca(2+) regulation. The calcium ch ...[more]

PMID: 20860846

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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 ?2 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 of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population.

Publications

Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population.

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