Dokkyo Medical Journal
Online ISSN : 2436-522X
Print ISSN : 2436-5211

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Association of CYP2R1 Gene Polymorphisms with Asthma and COPD in Japanese Patients
Kazuhiro TadaKenya KoyamaHisanori HirokawaAtsutaka OzakiJunya SatoTomoki HasegawaTakayuki KobayashiHiroyoshi WatanabeAkemi KoyamaHideyuki SatohYasutsugu Fukushima
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JOURNAL OPEN ACCESS Advance online publication

Article ID: 2023-050

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Abstract

CYP2R1 is an enzyme involved in vitamin D metabolism, and SNPs in the CYP2R1 gene are associated with asthma. We compared the SNPs rs10741657 and rs12794714 in CYP2R1 among 69 patients with chronic obstructive pulmonary disease (COPD), 77 patients with bronchial asthma (BA), and 50 healthy donors (HDs). The SNPs were identified in oral mucosal cells using specific thermal-elution chromatography. For both SNPs, the A allele frequency was higher in COPD than in BA patients and HDs. For both SNPs, the AA/AG genotype with COPD was associated with significantly lower peripheral eosinophil counts and higher peripheral neutrophil counts than the AA/AG genotypes with BA. In addition, the AA/AG genotype with COPD was associated with significantly lower FEV1 than the AA/AG genotype with BA. Moreover, for rs12794714, the GG genotype with COPD was associated with significantly lower FEV1 than the AA/AG and GG genotypes with BA p < 0.01 and 0.05, respectively. The AA/AG genotype of both SNPs with COPD appears associated with neutrophilic, rather than eosinophilic inflammation, and the GG genotype of rs12794714 with COPD seems associated with bronchial obstruction versus BA. CYP2R1 SNPs might relate to neutrophilic inflammation and bronchial obstruction in COPD in Japanese people.

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