TGFBR3, variants, traits, and what the research shows

TGFBR3 - what this gene does

Variants catalogued at this locus have been associated in population-level GWAS (genome-wide association studies, a research design that scans large groups of people's DNA for variants statistically linked to traits) with traits spanning respiratory health, cardiovascular biology, and metabolic processes, with one variant also flagged for musculoskeletal associations. Because the available research summaries do not include mechanistic detail, this entry describes the trait landscape the variants point toward rather than a specific molecular function.

Key takeaways

• Eight variants reach the highest evidence magnitude on file (4.50), with respiratory, cardiovascular, and metabolic traits all represented.
• Two independent variants are each linked to respiratory traits, making this the most replicated theme in the current dataset.
• Separate variants point to cardiovascular and metabolic associations at the same top evidence tier.
• A lower-magnitude variant adds a musculoskeletal connection to the trait profile.
• All signals are population-level statistics and do not predict health outcomes for any individual.

Notable variants

rs1805116 and rs80151214 both reach magnitude 4.50 and are each independently associated with respiratory traits, giving this trait theme the strongest internal replication in the dataset. rs2291477 reaches the same magnitude tier with a cardiovascular association, and rs529192228 carries a metabolic association at the same level. rs11583606, rs284201, rs4658265, and rs576316969 also sit at magnitude 4.50, though detailed trait descriptions for those four are not yet available in this dataset. Among the lower-magnitude findings, rs147485470 (magnitude 3.00) is noted for a musculoskeletal association.

Trait associations

Respiratory traits appear across two independent top-tier variants, rs1805116 and rs80151214, making respiratory health the most represented theme in the current dataset. Cardiovascular biology is represented by rs2291477 and metabolic processes by rs529192228, each at the highest magnitude tier on file. A musculoskeletal signal appears at a lower magnitude through rs147485470. The remaining catalogued variants at this locus do not yet carry published trait summaries.

Evidence quality

The dataset includes 100 catalogued variants, of which 18 carry prior research summaries. The eight highest-magnitude variants (4.50) represent the strongest signals on file, though published editorial content is currently available for only one of them (rs11583606) and that summary does not yet include specific effect-size data such as odds ratios or sample sizes. The respiratory signal appearing independently in both rs1805116 and rs80151214 offers modest internal replication, but without multi-cohort confirmation or reported effect sizes the overall evidence base should be treated as preliminary.

What this is NOT

These variants are population-level statistical signals and are not deterministic predictors of any health outcome for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.