rs10773054 (RFLNA): Cholesterol Ratio Genetics
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Key takeaways
- rs10773054 is linked to small changes in cholesterol fraction ratios
- The effect allele shifts free versus esterified cholesterol proportions slightly
- Expression data shows the variant regulates nearby genes in nerve and fat tissue
- Findings reflect population statistics, not individual medical risk
Key takeaways
- The variant rs10773054 is linked to small shifts in cholesterol fraction ratios.
- Carriers of the effect allele show slightly altered proportions of free versus esterified cholesterol.
- The variant influences gene expression in several tissues, including nerve and adrenal gland tissue.
- Research relies on large population samples but focuses on biochemical ratios rather than direct disease outcomes.
What the research says Genome-wide association studies have identified rs10773054 as a common genetic variant associated with variations in cholesterol fraction ratios. The evidence points to a modest shift in the proportion of free cholesterol relative to total cholesterol and esterified cholesterol, with a reported effect size of 0.015 and a p-value of 7e-9 in approximately 98 thousand individuals PMID 39091897. Another closely linked ratio shows a reported effect size of 0.0004 with a p-value of 8e-9 in the same cohort PMID 39091897. Independent expression data confirms that this locus modulates the activity of nearby genes in specific tissues, suggesting a localized regulatory role rather than a broad systemic effect.
Reported associations
- Total Free Cholesterol to Total Cholesterol percentage: The variant is associated with a reported effect size of 0.015 per effect allele, with a p-value of 7e-9, observed in approximately 98 thousand individuals PMID 39091897.
- Total Free Cholesterol to Total Esterified Cholesterol ratio: The variant shows a reported effect size of 0.0004 per effect allele, with a p-value of 8e-9, also measured in roughly 98 thousand individuals PMID 39091897.
Evidence quality The statistical signals for both cholesterol ratio traits are highly significant, with p-values well below standard genome-wide thresholds. The analyses draw from a large cohort of approximately 98 thousand individuals, which provides strong statistical power to detect small effect sizes. However, the reported effect sizes are numerically small, indicating that while the association is robust, the variant explains only a minor fraction of the population variation in these lipid fractions. The current evidence describes biochemical ratios rather than clinical disease endpoints, and independent replication cohorts are not detailed in the primary source. As always, we do not prescribe, we describe, and these findings reflect population-level statistical patterns rather than deterministic biological outcomes.
Tissue-specific expression effects
- CCDC92: Increased expression in subcutaneous adipose tissue GTEx Portal
- RFLNA: Reduced expression in adrenal gland, colon sigmoid, and tibial nerve GTEx Portal
- ENSG00000275389: Reduced expression in frontal cortex brain tissue, sun-exposed lower leg skin, and tibial nerve GTEx Portal
- ZNF664: Increased expression in subcutaneous adipose tissue GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs10773054 affect?
Research links this variant to slight shifts in cholesterol fraction ratios and local gene expression in tissues like nerve and fat.
Is rs10773054 a disease-causing mutation?
No. It is a common variant associated with minor biochemical ratio changes, not a direct cause of genetic disease.
How does rs10773054 influence gene activity?
Expression data indicates it reduces activity of nearby genes in nerve and adrenal tissue while increasing it in fat tissue.