Genetic association between the rs12252 SNP of the interferon-induced transmembrane protein gene and influenza A virus i
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ORIGINAL ARTICLE
Genetic association between the rs12252 SNP of the interferon‑induced transmembrane protein gene and influenza A virus infection in the Korean population Yong‑Chan Kim1,2 · Min‑Ju Jeong1,2 · Byung‑Hoon Jeong1,2 Accepted: 21 October 2020 © The Korean Society of Toxicogenomics and Toxicoproteomics 2020 2020
Abstract Background Interferon-induced transmembrane protein 3 (IFITM3) is a potent host antiviral effector protein that blocks the invasion of various viruses, including the influenza A virus (IAV). The C allele of the rs12252 single nucleotide polymorphism (SNP) shows vulnerability to the pandemic 2009 H1N1 IAV in European and Asian populations. Objective Here, we estimated the disease susceptibility of the rs12252 SNP with the pandemic 2009 H1N1 IAV infection in the Korean population. Results We carried out direct sequencing of the IFITM3 gene and compared the genotype and allele frequencies of the rs12252 SNP of the IFITM3 gene in healthy Koreans and pandemic 2009 H1N1 IAV-infected patients. Notably, we observed that healthy individuals had a similar genotype distribution of the rs12252 SNP (P = 0.140) as patients. The dominant model and recessive model did not find a statistically significant difference in genotype distribution between healthy individuals and patients. In addition, the allele distribution of the rs12252 SNP of in healthy individuals and patients also showed a similar genetic distribution (P = 0.757). However, the genetic distribution of rs12252 SNP in merged patient group (Koreans and Chinese populations) showed significant association with susceptibility of pandemic 2009 IAV (P = 0.0393). Conclusion To the best of our knowledge, this was the first evaluation of the susceptibility of the pandemic 2009 H1N1 IAV in the Korean population. Keywords IFITM3 · Single nucleotide polymorphism · rs12252 SNP · Case–control study
Introduction Interferon-induced transmembrane protein 3 (IFITM3) is a host antiviral effector protein that augments expression levels by type I and II interferons to respond to the invasion of various viruses, including influenza A virus (IAV) (Brass et al. 2009; Weidner et al. 2010; Bailey et al. 2012; Diamond Yong-Chan Kim and Min-Ju Jeong contributed equally to this work. * Byung‑Hoon Jeong [email protected] 1
Korea Zoonosis Research Institute, Jeonbuk National University, 820‑120, Hana‑ro, Iksan, Jeonbuk 54531, Republic of Korea
Department of Bioactive Material Sciences, Jeonbuk National University, Jeonju, Jeonbuk 54896, Republic of Korea
2
and Farzan 2013; Kim et al. 2019; Lee et al. 2019). IFITM3 protein is localized in late endosomes and inhibits endosomal escape of influenza A viruses (Feeley et al. 2011). In particular, the N-terminal domain of the IFITM3 protein contains a sorting signal motif and plays a pivotal role in correct localization to the endosome and in blocking viral infections (Jia et al. 2012, 2014; Li et al. 2013). Recent studies showed that single nucleotide polymorphisms (SNPs) of the IFITM3 gene influence the anti
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