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Genome-Wide Association Study of Korean Asthmatics: A Comparison With UK Asthmatics

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Abstract
Purpose: Although genome-wide association studies (GWASs) represent the most powerful approach for identifying genes that influence asthma, to date, no studies have established genetic susceptibility to asthma in the Korean population. This study aimed to identify genetic variants associated with adult Korean asthmatics and compare them with the significant single nucleotide polymorphisms (SNPs) of UK asthmatics from the UK Biobank.

Methods: Patients were defined as having asthma if they were diagnosed by a doctor or taking medications for asthma. Controls were defined as individuals without asthma or chronic obstructive pulmonary disease. We performed quality control, genotype imputation, GWAS, and PrediXcan analyses. In the GWAS, a P value of < 5 x 10(-8) was considered significant. We compared significant SNPs between Korean and UK patients with asthma.

Results: A total of 1,386 asthmatic patients and 5,205 controls were analyzed. The SNP rs1770, located near the human leukocyte antigen (HLA)-DQB1, was the most significant SNP (P = 4.5 x 10(10)). In comparison with 24 SNPs in a GWAS of UK asthmatics, six SNPs were significant with the same odds ratio (OR) direction, including signals related to type 2 inflammation (e.g., IL1RL1, TSLP, and GATA3) and mucus plugging (e.g., MUC5AC). HLA-DQA1 showed an opposite OR direction. The HLA-DQB1 gene demonstrated significantly imputed mRNA expression in the lung tissue and whole blood.

Conclusions: The SNP rs1770 of HLA-DQB1 was the most significant in Korean asthmatics. Similarities and discrepancies were found in the genetic variants between Korean and UK asthmatics. GWAS of Korean asthmatics should be replicated and compared with those of GWAS of other ethnicities.
Author(s)
강해연권혁수김우진김태범도유라문희범송우정안진원성호이상훈이지향조유숙Ian M AdcockKian Fan ChungSile Hu
Issued Date
2021
Type
Article
Keyword
Genome-wide association studyasthmageneticsKoreaUnited Kingdomhuman leukocyte antigen
DOI
10.4168/aair.2021.13.4.609
URI
https://oak.ulsan.ac.kr/handle/2021.oak/8121
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_9843040&amp;context=PC&amp;vid=ULSAN&amp;lang=ko_KR&amp;search_scope=default_scope&amp;adaptor=primo_central_multiple_fe&amp;tab=default_tab&amp;query=any,contains,Genome-Wide%20Association%20Study%20of%20Korean%20Asthmatics:%20A%20Comparison%20With%20UK%20Asthmatics&amp;offset=0&amp;pcAvailability=true
Publisher
ALLERGY ASTHMA IMMUNOLOGY RESEARCH
Location
대한민국
Language
한국어
ISSN
2092-7355
Citation Volume
13
Citation Number
4
Citation Start Page
609
Citation End Page
622
Appears in Collections:
Medicine > Medicine
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