rs4253778

What is the rs4253778 variant?

rs4253778 is a SNP (single nucleotide polymorphism) in the PPARA (Peroxisome Proliferator Activated Receptor Alpha) gene. It belongs to the Metabolic category and is part of the Mitochondrial Energy Production & PEM biological cluster. PPARA encodes PPAR-alpha, a nuclear receptor that activates fatty acid oxidation genes in the liver and other tissues.

Biological role and pathway

This variant sits within the PPARA gene, which is involved in the fatty acid oxidation / mitochondrial biogenesis pathway. Genes within the Mitochondrial Energy Production & PEM 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 — particularly under conditions of physiological stress such as viral infection or prolonged illness.

Parent gene: PPARA

rs4253778 is one of 2 known variants in the PPARA gene. To understand the full biological context of this variant, explore the parent gene page.

Conditions studied in relation to rs4253778

Research into PPARA variants including rs4253778 has explored associations with the following conditions. These are areas of scientific investigation and do not imply causation.

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 PPARA and the rs4253778 variant.

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.

Other variants in the PPARA gene

The following variants in PPARA are also studied in relation to chronic illness and may be analysed together for a more complete picture.

Frequently asked questions