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Assessment of NKG2C copy number variation in HIV-1 infection susceptibility, and considerations about the potential role of lacking receptors and virus infection

Journal of Human Genetics volume 67, pages 475–479 (2022)Cite this article

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Abstract

Human Immunodeficiency Virus (HIV) infection dynamics is strongly influenced by the host genetic background. NKG2C is an activating receptor expressed mainly on Natural Killer (NK) cells, and a polymorphism of copy number variation in the gene coding for this molecule has been pointed as a potential factor involved in HIV infection susceptibility. We evaluated the impact of the NKG2C deletion on HIV-1 susceptibility, with or without HBV/HCV co-infection, in a total of 780 individuals, including 385 HIV-infected patients and 395 healthy blood donors. NKG2C deletion genotyping was performed by standard PCR. To our knowledge, this is the first study to access the impact of complete NKG2C deletion among HIV-infected Brazilian individuals. The frequency of NKG2C deletion (range: 19–22%) was similar in cases and controls. No association of NKG2C deletion with HIV-1 susceptibility or influence on clinical features, HBV or HCV co-infection was observed in the evaluated population. Our findings suggest that NKG2C deletion, and the consequent absence of this receptor expression, does not directly impact HIV susceptibility, HBV/HCV-co-infection in the studied population, suggesting that other signaling pathways might be triggered and perform similar functions in cell activity in the absence of this specific receptor, preventing the development of disadvantageous phenotypes. Larger cohorts and studies involving protein expression are necessary to confirm our findings.

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Authors and Affiliations

  1. Laboratório de Imunobiologia e Imunogenética, Departamento de Genética, Universidade Federal do Rio Grande do Sul—UFRGS, Porto Alegre, Rio Grande do Sul, Brazil

    Bruno Toson, Maria C. T. Matte, Robson Soares, Gabriela K. S. Lawisch & José A. B. Chies

  2. Laboratório de Genética Molecular Humana, Programa de Pós-Graduação em Biologia Celular e Molecular Aplicada à Saúde (PPGBIOSaúde), Universidade Luterana do Brasil, Canoas, Brazil

    Rafael T. Michita

  3. Laboratório de Pesquisa em Biologia Molecular, Departamento de Ciências Básicas da Saúde, Fundação Universidade Federal de Ciências da Saúde de Porto Alegre – UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil

    Vanessa S. Mattevi

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Toson, B., Michita, R.T., Matte, M.C.T. et al. Assessment of NKG2C copy number variation in HIV-1 infection susceptibility, and considerations about the potential role of lacking receptors and virus infection. J Hum Genet 67, 475–479 (2022). https://doi.org/10.1038/s10038-022-01029-w

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