SAMHD1 Gene

What is the SAMHD1 gene?

SAMHD1 encodes sam and hd domain containing deoxynucleoside triphosphate triphosphohydrolase 1, a protein involved in antiviral restriction. It belongs to the Innate Immunity category and is part of the Innate Immunity & Interferons biological cluster. SAMHD1 is a dNTPase that restricts HIV-1 and other retroviruses by depleting the dNTP pool needed for reverse transcription. Loss-of-function mutations cause Aicardi-Goutières syndrome type 5, a type I interferonopathy.

Biological role and pathway

SAMHD1 is involved in the antiviral restriction pathway, which plays a central role in regulating physiological processes relevant to immune defence, cellular energy, and systemic homeostasis. 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 in these systems — particularly under conditions of physiological stress such as viral infection or prolonged illness.

Known genetic variants

The following variants (SNPs) in the SAMHD1 gene have been studied in relation to innate immunity and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.

• rs6029941— SAMHD1 variant
• rs7279482— SAMHD1 variant

Conditions studied in relation to SAMHD1

Research into SAMHD1 variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that SAMHD1 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 SAMHD1 and related genes in the innate immunity & interferons 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 Innate Immunity & Interferons pathway

SAMHD1 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