Association Study of NDFIP2 Genetic Polymorphism with Asthma in the Korean Population

• Published in: Korean journal of clinical laboratory science 2021-09, Vol.53 (3), p.249-256
• Main Authors: Choi, Eun Hye, Hwang, Dahyun
• Format: Article
• Language: English
• Subjects: asthma; mapk; nedd4 family interacting protein 2; single nucleotide polymorphism
• ISSN: 1738-3544; 2288-1662
• DOI: 10.15324/kjcls.2021.53.3.249

Asthma is a chronic inflammatory airway disease. There are many factors including genetic and environmental factors that influence asthma. The mitogen-activated protein kinase (MAPK) pathway is involved in maintaining the T helper cells 1 and 2 (Th1/Th2) balance and plays an important role in the development of asthma. In this study, the correlation between the NDFIP2 gene that regulates the MAPK pathway and asthma was analyzed. The genetic polymorphism of the NDFIP2 gene was analyzed between 193 asthma patients and 3,228 healthy controls in Korea. As a result, 4 single nucleotide polymorphisms (SNPs) showed a significant correlation (P＜0.05) and high relative risk with asthma. Among them, rs2783122 of NDFIP2 showed a statistically significant association with asthma (P-value=9.76×10−6, odds ratio (OR)=1.67, 95% confidence interval (CI)=1.33∼2.10). In the SNP imputation on the NDFIP2, 16 SNPs were discovered, and all of them showed significant correlation with asthma and high odds ratio. The genotype-based mRNA expression analysis revealed that the group of minor alleles of rs1408049 showed increased mRNA expression. Increased NDFIP2 expression causes the activation of the MAPK pathway, and this may influence the development of asthma. In conclusion, the polymorphisms of NDFIP2 are associated with asthma development and this can provide the basis for new guidelines for the management of asthma in the Korean population.