ESR1 Gene

What is the ESR1 gene?

ESR1 encodes estrogen receptor 1 (eralpha), a protein involved in estrogen nuclear receptor signaling. It belongs to the Neuroendocrine category and is part of the Immune System & Inflammation biological cluster. ESR1 encodes estrogen receptor alpha (ERα), the major nuclear receptor mediating estrogen effects on gene expression, immune function, and cardiovascular biology.

Biological role and pathway

ESR1 is involved in the estrogen nuclear receptor signaling 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.

Known genetic variants

The following variants (SNPs) in the ESR1 gene have been studied in relation to neuroendocrine and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.

• rs9340799— ESR1 variant
• rs2234693— ESR1 variant

Conditions studied in relation to ESR1

Research into ESR1 variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that ESR1 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 ESR1 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

ESR1 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