Genetics of Fibrosis
Fibrosis involves excessive accumulation of extracellular matrix proteins (particularly collagen) in response to tissue injury, leading to scarring and organ dysfunction. Genetic variants in TGF-beta signalling, matrix remodelling, and inflammatory pathways influence fibrotic risk.
This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.
What is Fibrosis?
Fibrosis is the pathological end-stage of chronic tissue injury, where normal tissue architecture is replaced by scar tissue. It can affect the lungs (pulmonary fibrosis), liver (cirrhosis), heart (cardiac fibrosis), and kidneys. In Long COVID, pulmonary fibrosis has been documented in a subset of patients following severe SARS-CoV-2 pneumonia. The fibrotic cascade is driven by TGF-beta signalling, myofibroblast activation, excessive collagen deposition, and impaired fibrinolysis. Genetic variants influencing TGF-beta responsiveness, MMP activity, and inflammatory resolution may modify individual fibrotic risk.
Biological pathways commonly discussed in relation to Fibrosis
Research into Fibrosis and Tissue Scarring has highlighted several biological pathways that may be relevant. Genetic variants within these pathways may influence individual susceptibility, symptom severity, or the trajectory of the condition.
Tgf Beta Signalling
TGF-beta is the master regulator of fibrosis. SMAD3 and related signalling variants influence TGF-beta responsiveness and downstream profibrotic gene expression.
Myofibroblast Activation
Myofibroblasts are the primary collagen-producing cells in fibrosis. Their activation from resident fibroblasts is driven by TGF-beta, mechanical stress, and inflammatory signals.
Collagen Deposition
Excessive deposition of collagen types I and III is the structural hallmark of fibrosis. Variants in COL1A1, COL3A1, and LOX (lysyl oxidase, which crosslinks collagen) affect extracellular matrix composition.
Matrix Degradation
MMPs degrade fibrotic matrix, while TIMPs inhibit this process. Imbalance favouring inhibition (e.g. TIMP1 overexpression) promotes fibrotic progression.
Key genes studied in relation to Fibrosis
The following genes have been studied in relation to Fibrosis and Tissue Scarring. These genes span the biological pathways most commonly discussed in this area of research.
18 genes total studied in relation to Fibrosis across the ChronicDNA dataset.
Genetic variants commonly discussed
The following genetic variants (SNPs) are found in genes that have been studied in relation to Fibrosis. Each variant represents a position in the genome where individuals may carry different alleles.
25 variants total across genes studied in relation to Fibrosis.
How personal DNA data may provide educational insights
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 relate to areas such as Fibrosis.
This is not a diagnostic service. Genetic variants do not determine whether you have Fibrosis, nor do they predict your clinical outcomes. 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. All results should be discussed with a qualified healthcare provider.
Related conditions and pathways
Fibrosis shares biological pathways and genetic associations with the following related conditions and areas of research.
Frequently asked questions
What is fibrosis and how does it relate to Long COVID?
Fibrosis is the replacement of normal tissue with scar tissue following chronic injury. In Long COVID, pulmonary fibrosis has been reported in patients who had severe COVID-19 pneumonia, reflecting ongoing repair processes in damaged lung tissue.
Which genes are studied in relation to fibrosis?
Key genes include TGFB1, SMAD3, COL1A1, COL3A1, MMP2, MMP9, TIMP1, and LOX. These cover the TGF-beta signalling cascade, collagen synthesis, and matrix remodelling balance.
Is fibrotic risk hereditary?
Genetic variants in TGF-beta pathway genes and matrix remodelling enzymes can influence fibrotic tendency. These variants do not determine whether someone will develop fibrosis, but may shift the biological balance towards or away from fibrotic responses under inflammatory conditions.
Can antifibrotic genetics be measured in consumer DNA data?
Some fibrosis-relevant variants are included in consumer DNA datasets. ChronicDNA analyses these for educational context — they do not predict fibrosis development or severity.
Explore DNA insights
If you already have DNA data from 23andMe, AncestryDNA, or MyHeritage, upload your raw file to ChronicDNA and receive a personalised educational report covering genes studied in relation to Fibrosis and connected biological pathways.
Get Your Personalised DNA ReportInformational and educational only · Not a diagnostic tool · GDPR compliant
18 genes · 25 variants analysed in relation to Fibrosis