rs2240896
Variant in the USP18 gene (Ubiquitin Specific Peptidase 18)
rs2240896 is a single nucleotide polymorphism (SNP) in the USP18 gene, involved in interferon regulation. Variants at this position have been studied in relation to immune function, metabolism, and chronic illness.
This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.
What is the rs2240896 variant?
rs2240896 is a SNP (single nucleotide polymorphism) in the USP18 (Ubiquitin Specific Peptidase 18) gene. It belongs to the Innate Immunity category and is part of the Innate Immunity & Interferons biological cluster. USP18 is a negative regulator of type I interferon signaling that cleaves ISG15 conjugates and directly inhibits JAK1 association with IFNAR2. Inherited USP18 deficiency causes severe type I interferonopathy.
Biological role and pathway
This variant sits within the USP18 gene, which is involved in the interferon regulation pathway. Genes within the Innate Immunity & Interferons cluster work together to maintain balanced function across interconnected biological systems.
Variants in genes within this pathway may influence an individual's predisposition to altered function — particularly under conditions of physiological stress such as viral infection or prolonged illness.
rs2240896 and Long COVID / ME-CFS research
USP18 is the master brake on type I interferon signaling. Variants affecting its negative regulatory function may prolong interferon responses, contributing to the chronic type I interferon signature observed in Long COVID and ME/CFS transcriptomics.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: USP18
rs2240896 is one of 3 known variants in the USP18 gene. To understand the full biological context of this variant, explore the parent gene page.
View USP18 gene page →Conditions studied in relation to rs2240896
Research into USP18 variants including rs2240896 has explored associations with the following conditions. These are areas of scientific investigation and do not imply causation.
Genetic insights from DNA data
Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may include USP18 and the rs2240896 variant.
The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. Results are presented in plain English with appropriate scientific context, no medical jargon, no scare tactics. All results should be discussed with a qualified healthcare provider.
Other variants in the USP18 gene
The following variants in USP18 are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs2240896 variant in the USP18 gene?
rs2240896 is a single nucleotide polymorphism (SNP) located in the USP18 (Ubiquitin Specific Peptidase 18) gene, which is involved in interferon regulation. USP18 is a negative regulator of type I interferon signaling that cleaves ISG15 conjugates and directly inhibits JAK1 association with IFNAR2. Inherited USP18 deficiency causes severe type I interferonopathy.
How may the rs2240896 variant relate to Long COVID or ME/CFS?
USP18 is the master brake on type I interferon signaling. Variants affecting its negative regulatory function may prolong interferon responses, contributing to the chronic type I interferon signature observed in Long COVID and ME/CFS transcriptomics.
Can a consumer DNA test detect the rs2240896 variant?
Many consumer DNA tests such as 23andMe, AncestryDNA, and MyHeritage genotype common SNPs. ChronicDNA analyses your raw DNA file and reports on variants studied in relation to chronic illness, immune function, and metabolism. This is not a diagnostic service — results are informational and educational only.
Find out if you carry the rs2240896 variant
Upload your DNA data from 23andMe, AncestryDNA, or MyHeritage and receive a personalised report covering >80 genes relevant to Long COVID and ME/CFS.
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References
The following publications were used in compiling the research context for USP18 and its variants. This is not an exhaustive literature review.
- [1]PMID: 31940600
- [2]Nature Immunology
- [3]New England Journal of Medicine