The Influence of the rs30461 Single Nucleotide Polymorphism on IFN-λ1 Activity and Secretion

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DOI

Genetic variation within the IFNL loci is associated with several diseases and evidence indicates that the IFNL genes have been subjects of strong selection during recent human evolution. The nonsynonymous rs30461 single nucleotide polymorphism (SNP), generating interferon (IFN)-λ1 D188N, shows a strong signature of positive selection in European and Asian populations. Nevertheless, genetic association studies have failed to show any coupling of rs30461 to diseases such as psoriasis and periodontitis. Based on these observations, we purified IFN-λ1 N188 and IFN-λ1 D188 to compare the biological activity of these 2 IFN-λ1 versions. Furthermore, we evaluated the secretion of the 2 different IFN-λ1 versions. We were unable to observe any differences between IFN-λ1 N188 and IFN-λ1 D188 based on biological activity or secretion that could account for the positive selection.

Original languageEnglish
JournalJournal of Interferon & Cytokine Research
Volume39
Issue10
Pages (from-to)661-667
Number of pages7
ISSN1079-9907
DOIs
Publication statusPublished - Oct 2019

    Research areas

  • IFN-λ1, SNP, antiviral activity, human evolution

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