Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases

• Published in: Allergy and asthma proceedings Vol. 38; no. 1; p. 4
• Main Authors: Kim, Lyoung Hyo, Chang, HunSoo, Namgoong, Suhg, Kim, Ji On, Cheong, Hyun Sub, Lee, Seo-Gyeong, Park, Jong Sook, Baek, Ae Rin, Koo, So-My, Choi, Inseon S, Kim, Mi-Kyeong, Park, Hea-Sim, Park, Choon-Sik, Shin, Hyoung Doo
• Format: Journal Article
• Language: English
• Published: United States 01.01.2017
• Subjects: Adolescent; Adult; Aged; Alleles; Asthma, Aspirin-Induced - diagnosis; Asthma, Aspirin-Induced - genetics; Case-Control Studies; Child; Computational Biology - methods; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation; Genotype; Haplotypes; Humans; Introns; Linkage Disequilibrium; Male; Middle Aged; Mutation; Neoplasm Proteins - genetics; Polymorphism, Single Nucleotide; Respiratory Function Tests; Young Adult
• ISSN: 1539-6304
• DOI: 10.2500/aap.2017.38.4014

Aspirin-exacerbated respiratory disease (AERD) is characterized by a severe and sudden asthma attack after aspirin ingestion in patients with asthma. We studied associations with six common single nucleotide polymorphisms (SNP) of the gasdermin B gene (GSDMB). DNA obtained from 572 patients with asthma (with AERD, n = 165; and with aspirin-tolerant asthma, n = 407) and 391 normal controls was subjected to genotyping of six SNPs of GSDMB. An association analysis between GSDMB variants and AERD, with a fall rate of the forced expiratory volume in the first second of expiration (FEV1), was performed by using logistic and regression models. Two SNPs in the intron (rs870830, rs7216389) showed significant associations with AERD (minimum p = 7.00 × 10-4 in the dominant model), even after Bonferroni correction (pcorr = 0.01 for the rs870830). Regression analysis of the genetic variants with FEV1 revealed significant associations with rs870830 and the haplotype 2 (pcorr = 4.71 × 10-4 for rs870830 and pcorr = 1.14 × 10-3 for haplotype 2, respectively). We found strong associations among GSDMB polymorphisms and the presence of AERD and FEV1 in Korean patients with asthma. Our findings indicated that genetic variations of GSDMB may be associated with the development of AERD and aspirin-induced bronchospasm.