COL6A1 Gene
Collagen Type VI Alpha 1 Chain (COL6A1) is a gene involved in extracellular matrix / muscle integrity that has been studied in relation to immune function, metabolism, and chronic illness. Variants in COL6A1 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 COL6A1 gene?
COL6A1 encodes collagen type vi alpha 1 chain, a protein involved in extracellular matrix / muscle integrity. It belongs to the Connective Tissue category and is part of the Coagulation & Microcirculation biological cluster. COL6A1 encodes type VI collagen, an important component of connective tissue sheaths surrounding muscle and tendons.
Biological role and pathway
COL6A1 is involved in the extracellular matrix / muscle integrity pathway, which plays a central role in regulating physiological processes relevant to immune defence, cellular energy, and systemic homeostasis. Genes within the Coagulation & Microcirculation 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.
COL6A1 and Long COVID / ME-CFS research
COL6A1 variants affect muscle connective tissue integrity; they are associated with Bethlem myopathy, and connective tissue variants may contribute to muscle symptoms 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 COL6A1 gene have been studied in relation to connective tissue and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.
- rs2270435— COL6A1 variant
Conditions studied in relation to COL6A1
Research into COL6A1 variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that COL6A1 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 COL6A1 and related genes in the coagulation & microcirculation 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 Coagulation & Microcirculation pathway
COL6A1 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 COL6A1 gene and what does it do?
COL6A1 (Collagen Type VI Alpha 1 Chain) is involved in extracellular matrix / muscle integrity. COL6A1 encodes type VI collagen, an important component of connective tissue sheaths surrounding muscle and tendons.
How may COL6A1 gene variants relate to Long COVID or ME/CFS?
COL6A1 variants affect muscle connective tissue integrity; they are associated with Bethlem myopathy, and connective tissue variants may contribute to muscle symptoms in Long COVID.
Can a DNA test reveal information about my COL6A1 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 COL6A1 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 COL6A1. This is not an exhaustive literature review.
- [1]PMID: 33141942
- [2]Nature Genetics
- [3]Neuromuscular Disorders