HSD3B1 Gene
Hydroxy-Delta-5-Steroid Dehydrogenase 3 Beta And Steroid Delta-Isomerase 1 (HSD3B1) is a gene involved in adrenal steroid synthesis that has been studied in relation to immune function, metabolism, and chronic illness. Variants in HSD3B1 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 HSD3B1 gene?
HSD3B1 encodes hydroxy-delta-5-steroid dehydrogenase 3 beta and steroid delta-isomerase 1, a protein involved in adrenal steroid synthesis. It belongs to the Hormonal category and is part of the Hormonal Regulation biological cluster. HSD3B1 encodes an enzyme essential for adrenal and gonadal steroid synthesis, converting pregnenolone to progesterone.
Biological role and pathway
HSD3B1 is involved in the adrenal steroid synthesis pathway, which plays a central role in regulating physiological processes relevant to immune defence, cellular energy, and systemic homeostasis. Genes within the Hormonal Regulation 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.
HSD3B1 and Long COVID / ME-CFS research
HSD3B1 variants affecting adrenal steroid production may contribute to adrenal insufficiency features reported in some Long COVID patients.
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 HSD3B1 gene have been studied in relation to hormonal and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.
- rs1047303— HSD3B1 variant
Conditions studied in relation to HSD3B1
Research into HSD3B1 variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that HSD3B1 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 HSD3B1 and related genes in the hormonal regulation 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 Hormonal Regulation pathway
HSD3B1 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 HSD3B1 gene and what does it do?
HSD3B1 (Hydroxy-Delta-5-Steroid Dehydrogenase 3 Beta And Steroid Delta-Isomerase 1) is involved in adrenal steroid synthesis. HSD3B1 encodes an enzyme essential for adrenal and gonadal steroid synthesis, converting pregnenolone to progesterone.
How may HSD3B1 gene variants relate to Long COVID or ME/CFS?
HSD3B1 variants affecting adrenal steroid production may contribute to adrenal insufficiency features reported in some Long COVID patients.
Can a DNA test reveal information about my HSD3B1 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 HSD3B1 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 ReportInformational and educational only · Not a diagnostic tool · GDPR compliant
References
The following publications were used in compiling the research context for HSD3B1. This is not an exhaustive literature review.
- [1]PMID: 32972995
- [2]Nature Genetics
- [3]Journal of Clinical Investigation