rs11981907 PTPRN2 bone mineral density urate interaction
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Key takeaways
- rs11981907 is linked to bone mineral density and urate levels
- It reduces expression of PTPRN2 in brain putamen basal ganglia and thyroid tissue
- The GWAS effect size is modest at 2.38 p=2e-8
Key takeaways
- rs11981907 is linked to bone mineral density and urate levels
- It reduces expression of PTPRN2 in brain putamen basal ganglia and thyroid tissue
- The GWAS effect size is modest at 2.38 p=2e-8
What the research says The GWAS catalog reports that rs11981907 is associated with an interaction between femur bone mineral density and serum urate levels with a reported effect size of 2.38 p=2e-8 in about 4 thousand individuals [PMID 34046847]. GTEx expression data show reduced PTPRN2 expression in brain putamen basal ganglia and thyroid tissue [GTEx Portal].
Reported associations
- Femur bone mineral density x serum urate levels interaction: the variant is associated with a reported effect size of 2.38 p=2e-8 in about 4 thousand individuals [PMID 34046847].
Evidence quality The GWAS used about 4 thousand individuals and reported a significant association with p=2e-8. The effect size is modest at 2.38. No other studies are provided so replication cannot be assessed.
Tissue-specific expression effects
- PTPRN2: reduced expression brain putamen basal ganglia, thyroid [GTEx Portal].
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs11981907 mean?
rs11981907 is a genetic variant in the PTPRN2 gene that has been linked to changes in bone mineral density and uric acid levels.
Is this variant harmful?
The GWAS shows an association with bone mineral density and urate but does not indicate disease risk.
Does it affect brain or thyroid?
GTEx data show reduced expression of PTPRN2 in brain putamen basal ganglia and thyroid tissue.