4.3 Article

Ethnic variation in risk genotypes based on single nucleotide polymorphisms (SNPs) of the interferon-inducible transmembrane 3 (IFITM3) gene, a susceptibility factor for pandemic 2009 H1N1 influenza A virus

Journal

IMMUNOGENETICS
Volume 72, Issue 9-10, Pages 447-453

Publisher

SPRINGER
DOI: 10.1007/s00251-020-01188-0

Keywords

IFITM3; Interferon; SNP; rs12252; rs34481144; rs6598045; Promoter region; pandemic influenza A 2009

Funding

  1. Basic Science Program through the National Research Foundation (NRF) of Korea - Ministry of Education, Science and Technology [2018R1D1A1B07048711]
  2. Basic Science Research Program through the National Research Foundation (NRF) of Korea - Ministry of Education [2017R1A6A1A03015876]
  3. NRF (National Research Foundation of Korea) - Korean Government
  4. BK21 Plus Program in the Department of Bioactive Material Sciences

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The interferon-inducible transmembrane 3 (IFITM3) protein is an effector of the host innate immune system that shows defensive activity against a wide range of viruses, including the influenza A virus. Previous studies have reported that three transcription-related regulatory single nucleotide polymorphisms (SNPs), rs12252, rs34481144, and rs6598045, showed potent associations with the severity of pandemic influenza A 2009 infection and susceptibility to this virus, respectively. However, the distribution of the risk genotypes of these three SNPs according to ethnic background has remained elusive. In this study, we compared the genotype and allele frequencies of the IFITM3 polymorphisms among several ethnic groups including American, African, European, South Asian, and East Asian using chi-square test. In addition, we analyzed the worldwide distribution of risk genotypes for pandemic influenza A 2009 virus infection. We found that the genotype and allele distributions of the rs12252, rs34481144, and rs6598045 SNPs were significantly different among several ethnic groups. In addition, the risk genotypes of the IFITM3 polymorphisms were also significantly different worldwide. To the best of our knowledge, this was the first simultaneous estimation of the risk genotypes of the IFITM3 gene with respect to pandemic influenza A 2009 virus infection.

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