title: Recent advance in investigation of gene polymorphisms in Japanese patients with aspirin-exacerbated respiratory disease.
abstract: 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.
authors.affiliation: Department of Allergy and Respiratory Medicine, Sutoh Hospital, Annaka, Gunma, Japan; Gunma Institute for Allergy and Asthma, Gunma, Japan. Electronic address: motohiro@kl.wind.ne.jp.
authors.forename: M
authors.initials: M
authors.lastname: Kurosawa
authors.affiliation: Yukawa Clinic of Internal Medicine, Tochigi, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yukawa
authors.affiliation: Hiroshima Allergy and Respiratory Clinic, Hiroshima, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Hozawa
authors.affiliation: Department of Pediatrics, School of Medicine, Tokai University, Kanagawa, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Mochizuki
mesh_terms: D000818:Animals; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000009:adverse effects / Q000627:therapeutic use*; D001241:Aspirin / Q000009:adverse effects / Q000627:therapeutic use*; D055963:Asthma, Aspirin-Induced / Q000175:diagnosis / Q000235:genetics*; D065731:Cytochrome P-450 CYP2C19 / Q000235:genetics; D020022:Genetic Predisposition to Disease; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics; D006801:Humans; D018793:Interleukin-13 / Q000235:genetics; D020381:Interleukin-17 / Q000235:genetics; D007564:Japan; D011110:Polymorphism, Genetic; D011451:Prostaglandin-Endoperoxide Synthases / Q000378:metabolism; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics; D011982:Receptors, Prostaglandin / Q000235:genetics
chemical_list: C553443:ADRB2 protein, human; D000894:Anti-Inflammatory Agents, Non-Steroidal; D018840:HSP70 Heat-Shock Proteins; D018793:Interleukin-13; D020381:Interleukin-17; D018343:Receptors, Adrenergic, beta-2; D011982:Receptors, Prostaglandin; D065731:Cytochrome P-450 CYP2C19; D011451:Prostaglandin-Endoperoxide Synthases; D001241:Aspirin
keywords: AERD; B2ADR; CRTH2; CYP2C19; Gene polymorphisms; HSP70; IL-13; IL-17A; TBXA2R