SPI1 Gene

SPI1 Proto-Oncogene (PU.1) (SPI1) is a gene involved in myeloid and B cell differentiation that has been studied in relation to immune function, metabolism, and chronic illness. Variants in SPI1 may influence how the body responds to infection, inflammation, and long-term recovery.

This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.

What is the SPI1 gene?

SPI1 encodes spi1 proto-oncogene (pu.1), a protein involved in myeloid and B cell differentiation. It belongs to the Immune Signaling category and is part of the Immune System & Inflammation biological cluster. SPI1 encodes PU.1, a transcription factor essential for myeloid cell differentiation and B cell development.

Biological role and pathway

SPI1 is involved in the myeloid and B cell differentiation pathway, which plays a central role in regulating physiological processes relevant to immune defence, cellular energy, and systemic homeostasis. Genes within the Immune System & Inflammation 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 in these systems — particularly under conditions of physiological stress such as viral infection or prolonged illness.

SPI1 and Long COVID / ME-CFS research

PU.1/SPI1 drives macrophage and dendritic cell differentiation; variants affecting myeloid cell development may influence monocyte and macrophage responses in Long COVID.

This information is based on published research and does not constitute medical advice. See references below.

Known genetic variants

The following variants (SNPs) in the SPI1 gene have been studied in relation to immune signaling and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.

Conditions studied in relation to SPI1

Research into SPI1 variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that SPI1 causes or treats any condition.

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 SPI1 and related genes in the immune system & inflammation pathway.

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.

Related genes in the Immune System & Inflammation pathway

SPI1 does not act in isolation. The following genes are functionally related and may be analysed together for a more complete picture of your genetic predispositions.

Frequently asked questions

What is the SPI1 gene and what does it do?

SPI1 (SPI1 Proto-Oncogene (PU.1)) is involved in myeloid and B cell differentiation. SPI1 encodes PU.1, a transcription factor essential for myeloid cell differentiation and B cell development.

How may SPI1 gene variants relate to Long COVID or ME/CFS?

PU.1/SPI1 drives macrophage and dendritic cell differentiation; variants affecting myeloid cell development may influence monocyte and macrophage responses in Long COVID.

Can a DNA test reveal information about my SPI1 gene?

Consumer DNA data from 23andMe, AncestryDNA, and MyHeritage includes SNP variants for many genes. ChronicDNA analyses your raw DNA file and reports on variants that have been studied in relation to chronic illness, immune function, and metabolism. This is not a diagnostic service — results are informational and educational only.

Explore your SPI1 genetic insights

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 Report

Informational and educational only · Not a diagnostic tool · GDPR compliant

References

The following publications were used in compiling the research context for SPI1. This is not an exhaustive literature review.

  • [1]PMID: 32296168
  • [2]Nature Genetics
  • [3]Blood