rs10858945 (ATP2B1): optic nerve measurement
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Key takeaways
- rs10858945 (ATP2B1) is linked to optic nerve measurement
- the variant reduces expression in testis and esophagus
- effect size 0.17 p=6e-6 from GWAS
Key takeaways rs10858945 (ATP2B1) is linked to optic nerve measurement the variant reduces expression in testis and esophagus effect size 0.17 p=6e-6 from GWAS
What the research says This variant is associated with optic nerve measurement with a reported effect size of 0.17 p=6e-6 in about 2 thousand individuals risk allele A [20395239]. The GTEx data shows reduced expression in esophagus mucosa and testis [GTEx Portal].
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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optic nerve cup area assessment Moderate
Risk allele associated with larger optic nerve cup area, a structural metric related to glaucoma risk.
Include optic nerve assessment at routine eye exams
Frequently asked questions
What does rs10858945 mean?
It is a genetic variant in the ATP2B1 gene that has been associated with optic nerve measurement and reduced expression in certain tissues.
Is this variant linked to disease?
The GWAS shows an association with optic nerve size but it does not cause a disease on its own.
Can I change my risk?
No lifestyle changes are recommended for this variant as there is no clear guidance.