IL4Rα and ADAM33 as genetic markers in asthma exacerbations and type-2 inflammatory endotype

  • H. Sunadome
  • , H. Matsumoto
  • , G. Petrova
  • , Y. Kanemitsu
  • , Y. Tohda
  • , T. Horiguchi
  • , H. Kita
  • , K. Kuwabara
  • , K. Tomii
  • , K. Otsuka
  • , M. Fujimura
  • , N. Ohkura
  • , K. Tomita
  • , A. Yokoyama
  • , H. Ohnishi
  • , Y. Nakano
  • , T. Oguma
  • , S. Hozawa
  • , T. Nagasaki
  • , I. Ito
  • T. Oguma, H. Inoue, T. Tajiri, T. Iwata, Y. Izuhara, J. Ono, S. Ohta, T. Hirota, M. Tamari, T. Yokoyama, A. Niimi, K. Izuhara, M. Mishima

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)

Abstract

Background: Genetic markers of susceptibility to asthma exacerbations in adults remain unclear. Objective: To identify genetic markers of asthma exacerbations, particularly in patients with type-2 inflammatory endotype. Methods: In this observational study of patients enrolled in the Kinki Hokuriku Airway disease Conference multicenter study, frequency of exacerbations requiring systemic corticosteroids during 2 years after enrolment and associated risk factors was determined. For genetic marker analysis, interleukin-4 receptor α (IL4RA) rs8832 and a disintegrin and metalloprotease 33 (ADAM33) S_2 (rs528557), T_1 (rs2280091), T_2 (rs2280090), and V_4 (rs2787094) variants were included. Elevated serum periostin levels at enrolment (≥95 ng/mL, defined as type-2 inflammatory endotype) were considered in the analysis. Results: Among 217 patients who were successfully followed up for 2 years after enrolment, 60 patients showed at least one asthma exacerbation during the 2 years. Airflow limitation (%FEV1 <80%) and recent exacerbations but not genetic variants were identified as risk markers of exacerbations. A total of 27 patients showed type-2 inflammatory endotype (serum periostin ≥95 ng/mL at enrolment) and subsequent exacerbations; risk factors in these patients were airflow limitation (odds ratio, 6.51; 95% confidence interval (CI): 2.37–18.6; P=.0003), GG genotype of IL4RA rs8832 (odds ratio, 4.01; 95% CI: 1.47–11.0; P=.007), and A allele of ADAM33 T_2 (odds ratio, 2.81; 95% CI: 1.05–7.67; P=.04) by multivariate analysis. In addition, GG genotype of IL4RA rs8832 was associated with type-2 endotype, whereas A allele of ADAM33 T_2 was associated with mixed type of eosinophilic/type-2 and neutrophilic inflammations. Conclusions and Clinical Relevance: IL4RA and ADAM33 variants may be risk markers of asthma exacerbations in type-2 inflammatory endotype. Precise endotyping may facilitate the identification of genetic risk markers of asthma exacerbations.

Original languageEnglish
Pages (from-to)998-1006
Number of pages9
JournalClinical and Experimental Allergy
Volume47
Issue number8
DOIs
Publication statusPublished - 08-2017

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology

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