rs10773069 (RFLNA): Height Association & Expression Effects
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Key takeaways
- rs10773069 is statistically linked to human height differences
- The association was confirmed in a dataset of roughly 5.3 million individuals
- The variant influences expression levels of several nearby genes across multiple tissues
- The reported effect size is small, indicating the variant explains only a minor portion of height variation
Key takeaways
- The variant rs10773069 is statistically linked to differences in human height.
- Large-scale genetic analysis involving roughly 5.3 million participants confirms a highly significant association with this trait.
- The variant influences the expression levels of several nearby genes across multiple tissue types.
What the research says Large-scale genetic studies have identified rs10773069 as significantly associated with human height PMID 36224396. The analysis included approximately 5.3 million individuals and found that the T allele corresponds to a reported effect size of 0.011, p=2e-48 PMID 36224396. This region also shows measurable impacts on the expression levels of several nearby genes across multiple tissue types.
Reported associations
- Height: Carriers of the T allele show a reported effect size of 0.011, p=2e-48, in a cohort of about 5.3 million individuals PMID 36224396.
Evidence quality The association for height is supported by a massive sample size of roughly 5.3 million participants, which provides substantial statistical power and yields a highly significant p-value of 2e-48 PMID 36224396. While the statistical signal is exceptionally strong, the reported effect size of 0.011 indicates that this single variant accounts for a very small fraction of overall height variation in the population. The evidence comes from a broad genome-wide association study, and the trait association is well-replicated within that large dataset.
Tissue-specific expression effects
- ENSG00000308532: Reduced expression in the brain cortex GTEx Portal
- DDX55: Increased expression in the esophagus gastroesophageal junction GTEx Portal
- RFLNA: Increased expression in cultured fibroblasts GTEx Portal
- TCTN2: Reduced expression in the esophagus mucosa and sun-exposed lower leg skin GTEx Portal
- MTRFR: Increased expression in the transverse colon GTEx Portal
- SBNO1: Reduced expression in skeletal muscle GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs10773069?
It is a single nucleotide polymorphism located near the RFLNA gene that has been identified in large-scale genetic studies as associated with human height.
How strong is the link between rs10773069 and height?
The statistical association is highly significant with a p-value of 2e-48, though the actual effect size is small, meaning it contributes only a tiny fraction to overall height differences.
Does rs10773069 affect gene activity in specific tissues?
Yes, research shows the variant correlates with altered expression levels of several nearby genes in tissues such as the brain cortex, skeletal muscle, and parts of the digestive tract.