IL-13 and IL-17A gene polymorphisms in Japanese patients with aspirin-exacerbated respiratory disease

Kohyama, Kenya; Abe, Shyuzo; Kodaira, Kazumi; Yukawa, Tatsuo; Hozawa, Soichiro; Sagara, Hironori; Kurosawa, Motohiro

doi:10.1016/j.anai.2011.09.003

Cited by 22 publications

(25 citation statements)

References 39 publications

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“…Interestingly, peripheral blood monocytes and mononuclear cells IL-17 receptor a-chain protein expression and mRNA levels were significantly lower in homozygote individuals for the minor allele, suggesting that these SNPs could decrease NERD risk by diminishing its expression [74]. A higher frequency of homozygotes for the common allele of IL-17A À737C>T was found in patients with NERD compared with ATA; these individuals showed lower peripheral eosinophil counts compared with arachidonic acid carriers [64]. Associations with other eosinophils-related molecules have been found in NERD for chemokine CC motif receptor 3 [57] and prostaglandin D2 receptor 2 [75].…”

Section: Immunoglobulin E Receptor Histamine Homeostasis-related Genmentioning

confidence: 86%

“…A higher MAF of À589T>C in patients with NERD than ATA has been described, with a gene dose-dependent decline in forced expiratory volume in one second (FEV1) after challenge [62]. Homozygous genotypes for the common allele of the À1111C>T polymorphism in IL-13, a cytokine which shares signaling pathways and the achain of the IL4 receptor [63], have been shown to be less frequent in NERD than in ATA, and FEV1 was lower when compared with carriers of the minor allele [64]. Although no statistically significant differences could be found for two promoter SNPs in IL-13 (À1510 A>C and À1055C>T) or the nonsynonymous Arg110Gln (110G>A) polymorphisms between NERD, ATA, and healthy controls in a Korean population, homozygous patients with NERD for the common allele showed a significantly higher peripheral eosinophils count and higher serum eotaxin-1 level compared with homozygotes for the minor allele [65].…”

Section: Immunoglobulin E Receptor Histamine Homeostasis-related Genmentioning

confidence: 96%

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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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Section: Immunoglobulin E Receptor Histamine Homeostasis-related Genmentioning

confidence: 86%

Section: Immunoglobulin E Receptor Histamine Homeostasis-related Genmentioning

confidence: 96%

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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“…We 11 showed that the frequencies of the combined homozygous TT and heterozygous CT genotype group of IL-13 −1111C>T were higher than those of the homozygous CC genotype in AERD patients compared to those with ATA (p < 0.001), and the OR of patients with AERD associated with the combined TT/CT genotype group to those with CC genotype was 2.818 (95% CI = 1.727---4.597). A positive association between asthma phenotype and the IL-13 −1111C>T genotype was found in female patients, and the frequencies of the combined TT/CT genotype group in female patients with AERD were higher than those of the CC genotype group compared to female ATA patients (p < 0.001, OR = 3.505, 95% CI = 1.946---6.312).…”

Section: Cytokine Genes Analysismentioning

confidence: 87%

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 target DNA sequence of SLC6A12 exon 4 T>C was amplified using a set of primers (forward: 5'-TCTTCCCACCAGGCTTTG-3' , reverse: 5'-TCCA-ACTTCTCTCCCTCCTC-3'). Allelic discrimination assay for two SNPs relating to the expressions of SLC6A12 intron 2 A>T and SLC6A12 exon 4 T>C (rs499368 and rs557881, respectively) was carried out by using previously described SNPs detective system, sequence-specific thermal-elution chromatography [9][10][11][12][13][14]. All subjects and investigators remained unaware of the genotype until the final analysis.…”

Section: Genotyping Of Slc6a12 Gene Polymorphismmentioning

confidence: 99%

“…However, conflicting results have been reported [7,8], and other genetic determinants remain to be identified. We have reported some new genetic aspects in Japanese patients with AERD [9][10][11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Solute Carrier Family 6 Member 12 Gene Polymorphisms in Japanese Patients with Aspirin-Exacerbated Respiratory Disease

Kurosawa¹,

Yukawa²

2015

J Allergy Ther

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Background: Betaine/gamma-aminobutyric acid (GABA) signaling pathway in the airway epithelium has been revealed to play a critical role in bronchial asthma. To elucidate any genetic influence of the GABAergic in aspirinexacerbated respiratory disease (AERD), we investigated the association of solute carrier family 6 (neurotransmitter transporter, betaine/GABA) member 12 (SLC6A12) gene in Japanese patients with AERD.Methods: DNA specimens were obtained from 103 AERD patients, 300 patients with aspirin-tolerant asthma (ATA) and 100 normal controls. Allelic discrimination assay for two single nucleotides polymorphisms in SLC6A12 gene (rs499368 and rs557881) was carried out. Results:The minor allele frequencies in SLC6A12 intron 2 A>T genotype (rs49936) were higher in AERD patients than in normal controls, and that in SLC6A12 exon 4 T>C genotype (rs557881) were higher in AERD patients than in ATA patients and normal controls. The frequencies of the combined TC/CC genotype group of SLC6A12 exon 4 T>C were higher than those of the TT genotype in AERD patients compared with those in ATA patients (P=0.021; odds ratio, 1.724; 95% confidence interval, 1.087-2.732). In male patients with AERD, frequencies of the TC/CC genotype group were higher than those of the TT genotype compared with male patients with ATA (P = 0.010; odds ratio, 3.177; 95% confidence interval, 1.311-7.699). Forced expiratory volume in one second (percentage predicted) in AERD patients with the TC/CC genotype group of the SLC6A12 exon 4 T>C gene was lower than that in the patients with the TT genotype (P=0.039). Conclusion:This is the first Japanese study to investigate the SLC6A12 intron 2 A>T and SLC6A12 exon 4 T>C genotype polymorphisms in patients with AERD. Our findings suggest that the association between SLC6A12 intron 2 A>T and exon 4 T>C gene sequence variations might be implicated in the development of AERD in a Japanese population.

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IL-13 and IL-17A gene polymorphisms in Japanese patients with aspirin-exacerbated respiratory disease

Cited by 22 publications

References 39 publications

Genetic basis of hypersensitivity reactions to nonsteroidal anti-inflammatory drugs

Genetic basis of hypersensitivity reactions to nonsteroidal anti-inflammatory drugs

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

Solute Carrier Family 6 Member 12 Gene Polymorphisms in Japanese Patients with Aspirin-Exacerbated Respiratory Disease

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