rs886039343
Variant in the PRF1 gene (Perforin 1)
rs886039343 is a single nucleotide polymorphism (SNP) in the PRF1 gene, involved in cytotoxic killing. 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 rs886039343 variant?
rs886039343 is a SNP (single nucleotide polymorphism) in the PRF1 (Perforin 1) gene. It belongs to the Adaptive Immunity category and is part of the Adaptive Immunity biological cluster. Perforin is a pore-forming protein stored in cytotoxic granules of CD8+ T cells and NK cells. It creates membrane pores in target cells to allow granzyme entry and trigger apoptosis, representing the primary mechanism of cytotoxic killing.
Biological role and pathway
This variant sits within the PRF1 gene, which is involved in the cytotoxic killing pathway. Genes within the Adaptive Immunity 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.
rs886039343 and Long COVID / ME-CFS research
NK cell cytotoxic dysfunction is documented in Long COVID with reduced perforin-mediated killing. PRF1 hypomorphic variants (particularly compound heterozygotes) cause familial hemophagocytic lymphohistiocytosis; milder variants may contribute to impaired cytotoxic immune surveillance in Long COVID.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: PRF1
rs886039343 is one of 3 known variants in the PRF1 gene. To understand the full biological context of this variant, explore the parent gene page.
View PRF1 gene page →Conditions studied in relation to rs886039343
Research into PRF1 variants including rs886039343 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 PRF1 and the rs886039343 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 PRF1 gene
The following variants in PRF1 are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs886039343 variant in the PRF1 gene?
rs886039343 is a single nucleotide polymorphism (SNP) located in the PRF1 (Perforin 1) gene, which is involved in cytotoxic killing. Perforin is a pore-forming protein stored in cytotoxic granules of CD8+ T cells and NK cells. It creates membrane pores in target cells to allow granzyme entry and trigger apoptosis, representing the primary mechanism of cytotoxic killing.
How may the rs886039343 variant relate to Long COVID or ME/CFS?
NK cell cytotoxic dysfunction is documented in Long COVID with reduced perforin-mediated killing. PRF1 hypomorphic variants (particularly compound heterozygotes) cause familial hemophagocytic lymphohistiocytosis; milder variants may contribute to impaired cytotoxic immune surveillance in Long COVID.
Can a consumer DNA test detect the rs886039343 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 rs886039343 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.
Get Your Personalised DNA ReportInformational and educational only · Not a diagnostic tool · GDPR compliant
References
The following publications were used in compiling the research context for PRF1 and its variants. This is not an exhaustive literature review.
- [1]PMID: 30862967
- [2]Blood
- [3]Journal of Allergy and Clinical Immunology