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PNPLA3 encodes a lipase enzyme that breaks down triglycerides stored in liver cells. Certain variants impair this process, increasing susceptibility to non-alcoholic fatty liver disease (NAFLD), particularly with high-calorie or high-fructose diets.
Regulates triglyceride metabolism and lipid droplet remodeling in hepatocytes (liver cells) and adipose tissue.
iHow to read this: each row is one possible genotype, the two DNA letters you carry at this position, one inherited from each parent. "Normal" matches the more common version; "Carrier" (heterozygous) means you have one copy of each version, usually a partial effect; "Variant" (homozygous) means both copies carry the less common version, usually the strongest effect. The estimated frequency below is calculated from the variant's frequency in the general population (Hardy-Weinberg principle) — it is a population estimate, not a measurement of our own customers.
The I148M variant (rs738409) is the most studied PNPLA3 polymorphism linked to liver fat accumulation.
| Genotype | Impact | Est. frequency | What it means |
|---|---|---|---|
| CCNormal | Low impact | ~59% | Normal PNPLA3 enzyme activity. Standard baseline risk of liver fat accumulation from diet alone. |
| CGCarrier | Moderate | ~35% | One copy of the risk allele (CG). Moderately reduced enzyme activity; diet quality has a noticeably higher impact on liver fat accumulation. |
| GGVariant | High impact | ~5% | Two copies of the risk allele (GG). Substantially reduced triglyceride breakdown in the liver, meaningfully raising NAFLD risk, especially with high-calorie, high-fat, or high-fructose diets. Fermented vegetables such as kimchi have been associated with reduced risk in carriers of this genotype. |
Estimated with the Hardy-Weinberg principle from the variant's population frequency, not measured directly.
How to get and read your raw DNA file
Upload your 23andMe or AncestryDNA file and get a personalized nutrition plan based on your exact genotype.