Polymorphisms of the CYP2C19 gene in Japanese patients with aspirin-exacerbated respiratory disease

Kohyama, Kenya; Abe, Shyuzo; Kodaira, Kazumi; Yukawa, Tatsuo; Hozawa, Soichiro; Morioka, Junichiro; Inamura, Hiroaki; Ota, Masaho; Sagara, Hironori; Kurosawa, Motohiro

doi:10.1016/j.jaci.2011.07.013

Cited by 18 publications

(15 citation statements)

References 9 publications

(7 reference statements)

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“…However, conflicting results have been reported [7,8], indicating that in parallel with replication studies in different ethnic groups, future areas of investigation should focus on the identification of genetic biomarkers for early diagnosis of AERD. In fact, we have reported some new genetic aspects in Japanese patients with AERD from our laboratory [9][10][11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Single Nucleotide Polymorphisms in Thymic Stromal Lymphopoietin Gene are not Associated with Aspirin-Exacerbated Respiratory Disease Susceptibility - A Pilot Study in a Japanese Population

Kurosawa¹,

Yukawa²,

Hozawa³

et al. 2015

J Allergy Ther

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Background: Thymic stromal lymphopoietin (TSLP) is an epithelial cell-derived cytokine, implicated in the development and progression of allergic diseases. Several studies indicated polymorphisms in TSLP gene were associated asthma, and two single nucleotides polymorphisms (SNPs) in TSLP (rs1837253 and rs2289276) were shown to be associated with asthma in a sex-specific fashion. However, there has been no report that investigated TSLP gene polymorphisms in patients with aspirin-exacerbated respiratory disease (AERD). Methods: DNA specimens were obtained from the following three groups: 105 patients with AERD, 270 patients with aspirin-tolerant asthma (ATA) and 90 normal controls. The target DNA sequence of the TSLP gene was amplified using a set of primers. Allelic discrimination assay for the two SNPs in TSLP gene (rs1837253 and rs2289276) was carried out. All patients were Japanese, and they were in a stable condition. Results: The frequency of the T minor allele of TSLP-5717C>T in patients with AERD and those with ATA was significantly higher than that in normal controls. There were no significant difference of the T minor allele frequency of TSLP-82C>T among the three groups. Analysis of genotype frequencies of the CT/TT genotype group and CC genotype both in TSLP-5717C>T and in TSLP-82C>T showed no differences between AERD and ATA patients. In addition, subgroup analysis of the genotype frequencies with gender did not differ between AERD and ATA patients. Conclusion: This is the first pilot study to investigate TSLP gene polymorphisms in AERD, which didn't find an association between the TSLP gene polymorphisms and AERD susceptibility in a Japanese population, suggesting polymorphisms in TSLP gene may contribute to asthma, but not to aspirin hypersensitivity.

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Section: Introductionmentioning

confidence: 99%

Single Nucleotide Polymorphisms in Thymic Stromal Lymphopoietin Gene are not Associated with Aspirin-Exacerbated Respiratory Disease Susceptibility - A Pilot Study in a Japanese Population

Kurosawa¹,

Yukawa²,

Hozawa³

et al. 2015

J Allergy Ther

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“…We 12 showed that the frequencies of two alleles, *2 and *3, were higher than those of the *1 allele in patients with AERD compared to those seen in patients with ATA and healthy control subjects (p < 0.001). The frequencies of PM (*2/*2, *2/*3, *3/*3) were higher than those of RM (*1/*1) and IM (*1/*2, *1/*3) in patients with AERD compared to those seen in patients with ATA (p < 0.001).…”

Section: Cytochrome P450 Genes Analysismentioning

confidence: 62%

Recent advance in investigation of gene polymorphisms in Japanese patients with aspirin-exacerbated respiratory disease

Kurosawa¹,

Yukawa²,

Hozawa³

et al. 2015

Allergologia et Immunopathologia

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Aspirin-exacerbated respiratory disease (AERD) is a complex clinical syndrome characterised by severe asthmatic attack upon treatment with aspirin and/or non-steroidal anti-inflammatory drugs (NSAIDs). Genetic predisposition has been considered as a crucial determinant and candidate genes have concentrated especially on cysteinyl leukotrienes (LTs)-related genes as the inhibitory action of aspirin and NSAIDs on cyclooxygenase activity may cause overproduction of cysteinyl LTs. However, conflicting results have been reported, in parallel with replication studies in different ethnic groups. Thus, future areas of investigations need to focus on comprehensive approaches towards the discovery of other genetic biomarkers. Unfortunately, few papers have been reported about gene polymorphisms in Japanese patients with AERD. Here, we described on our recent genetic investigations on B2ADR, IL-13, IL-17A, CYP2C19, TBXA2R, CRTH2 and HSP70. This review indicates potential genetic biomarkers contributing to the early diagnosis of AERD, which may include CYP2C19 and HSP70 gene polymorphisms, and future validation studies in independent population are required to provide reassurance about our findings.

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“…The polymorphism 9246G>C and a particular haplotype of acetyl coenzyme A-dependent N-acetyltransferase, an enzyme involved in CysLTs inactivation, was associated with NERD in Korean patients [83]. NSAIDs are mainly metabolized by cytochrome P450 (CYP)2C9 in vitro and two polymorphisms in this gene with functional effects have been recently explored, finding that MAF of 681G>A and 636G>A were higher in patients with NERD compared with ATA [84]. Functional N-acetyltransferase and CYP2C polymorphisms have recently been analyzed in relation to metamizole metabolic profile [85 && ].…”

Section: Miscellaneous Associationsmentioning

confidence: 99%

Genetic basis of hypersensitivity reactions to nonsteroidal anti-inflammatory drugs

Gómez

Perkins²,

García‐Martín³

et al. 2015

Current Opinion in Allergy &Amp; Clinical Immunology

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The full genetic and molecular basis of clinical entities induced by NSAIDs hypersensitivity has yet to be uncovered, and despite commendable efforts over recent years, no clinically proven genetic markers currently exist for these disorders. It is clear that we will continue to find more about these reactions in the coming years, concurrently with improvements in technology and experimental techniques, and a precise definition of different phenotypes.

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Polymorphisms of the CYP2C19 gene in Japanese patients with aspirin-exacerbated respiratory disease

Cited by 18 publications

References 9 publications

Single Nucleotide Polymorphisms in Thymic Stromal Lymphopoietin Gene are not Associated with Aspirin-Exacerbated Respiratory Disease Susceptibility - A Pilot Study in a Japanese Population

Single Nucleotide Polymorphisms in Thymic Stromal Lymphopoietin Gene are not Associated with Aspirin-Exacerbated Respiratory Disease Susceptibility - A Pilot Study in a Japanese Population

Recent advance in investigation of gene polymorphisms in Japanese patients with aspirin-exacerbated respiratory disease

Genetic basis of hypersensitivity reactions to nonsteroidal anti-inflammatory drugs

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