KMID : 1144820200260040344
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´ëÇÑÀÇ»ý¸í°úÇÐȸÁö 2020 Volume.26 No. 4 p.344 ~ p.350
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Association of Single Nucleotide Polymorphisms in Interleukin-12 Receptor (IL-12R¥â1 and IL-12R¥â2) with Asthma in a Korean Population
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Jung Jae-Mee
Park Sang-Jung Kim Sung-Soo Hong Mi-Jin Choi Eun-Hye Jin Hyun-Seok Hwang Da-Hyun
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Abstract
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Asthma is a chronic disease and occurs in airway in the lung. The cause of the disease has not been identified, it is assumed that both genetic and environmental risk factors play an important role in the development of asthma. Interleukin (IL)-12 is a cytokine regulating T-cell and NK cell. In this study, we analyzed the genetic polymorphisms of IL-12 receptor genes (IL-12R¥â1 and IL-12R¥â2) in asthma patients and normal individuals in a Korean population. We analyzed single nucleotide polymorphisms (SNPs) in IL-12R¥â1 and IL-12R¥â2 using the genotype data of 193 asthma cases and 3,228 healthy controls from the Korea Association REsource for their correlation with asthma case. IL-12R¥â1 and IL-12R¥â2 genes showed statistically significant polymorphism association with asthma case. As a results, 16 SNPs from IL-12R¥â1 and IL-12R¥â2 genes showed statistically significant association with asthma. Among them, rs375947 SNP in IL-12R¥â1 showed the greatest statistical correlation with asthma (P-value = 0.028, Odds Ratio = 1.27, 95% Confidence Interval = 1.03~1.57). The groups with minor allele of IL-12R¥â1 and IL-12R¥â2 showed increased risk of asthma. The genotypebased mRNA expression analysis showed that the group of minor allele of IL-12R¥â1 showed decreased mRNA expression. Decreased IL-12R¥â1 expression causes decreased IL-12 signaling, and this affects developing asthma. In conclusion, the SNPs in IL-12R¥â1 and IL-12R¥â2 may contribute to development of asthma in a Korean population.
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KEYWORD
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Interleukin-12, IL-12R¥â1 and IL-12R¥â2, Asthma, Genetic association, Single nucleotide polymorphism
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