BMB Rep. 2012; 45(5): 305-310  
Replication of genome-wide association studies on asthma and allergic diseases in Korean adult population
Dankyu Yoon1,2,#, Hyo-Jeong Ban3,#, Young Jin Kim4, Eun-Jin Kim1,2, Hyung-Cheol Kim4, Bok-Ghee Han5, Jung-Won Park1,6, Soo-Jong Hong1,7, Sang-Heon Cho1,8, Kiejung Park3,* & Joo-Shil Lee1,2,*
1Research Center for Standardization of Allergic Disease, 2Allergy TF, Department of Immunology and Pathology, Korea National Institute of Health, 3Division of Bio-Medical Informatics, Center for Genome Science, Korea National Institute of Health, 4Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, 5Center for Genome Science, Korea National Institute of Health, Osong 363-951, 6Department of Internal Medicine and Institute of Allergy, Yonsei University College of Medicine, Seoul 120-752, 7Childhood Asthma Atopy Center, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul 138-736, 8Department of Internal Medicine, Seoul National University College of Medicine, Seoul 110-799, Korea
Correspondence to: Joo-Shil Lee, Tel: +82-43-719-8400; Fax: +82-43-719-8519; E-mail:, Kiejung Park, Tel: +82-43-719-8850; Fax: +82-43-719-8869; E-mail:
Received: September 27, 2011; Revised: November 3, 2011; Accepted: January 27, 2011; Published online: May 31, 2012.
© Korean Society for Biochemistry and Molecular Biology. All rights reserved.

Allergic diseases such as asthma, allergic rhinitis, and atopic dermatitis are heterogeneous diseases characterized by multiple symptoms and phenotypes. Recent advancements in genetic study enabled us to identify disease associated genetic factors. Numerous genome-wide association studies (GWAS) have revealed multiple associated loci for allergic diseases. However, the majority of previous studies have been conducted in populations of European ancestry. Moreover, the associations of single nucleotide polymorphisms (SNPs) with allergic diseases have not been studied amongst the large-scale general Korean population. Herein, we performed the replication study to validate the previous variants, known to be associated with allergic diseases, in the Korean population. In this study, we categorized three allergic related phenotypes, one allergy and two asthma related phenotypes, based on self-reports of physician diagnosis and their symptoms from 8,842 samples. As a result, we found nominally significant associations of 6 SNPs with at least one allergic related phenotype in the Korean population.
Keywords: Allergic diseases, Asthma, GWAS replication, Korean

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