The Study
Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility
This study found that a specific gene in mice is linked to eye pressure, and a medicine called pregabalin can lower that pressure—but only in mice with a certain version of the gene. It also saw a similar gene pattern in some humans with glaucoma. But it didn’t test the medicine on people, so we can’t say it works for humans yet.
Analysis score
Maximum 72 for a cohort study.
Where the score came from
Scientists found that a gene called CACNA2D1 helps control pressure inside the eye, and a drug called pregabalin can lower that pressure — but only if you have the right version of this gene.
Where does this study sit?
Reviews of RCTs (Meta-analyses)
Max 100Randomized Trials
Max 90Reviews of Cohort Studies
Max 85Cohort Studies
Max 72Reviews of Case-Control Studies
Max 63Case-Control Studies
Max 58Cross-Sectional & Case Series
Max 50Expert Opinion
Max 565 / 100
Quality score
Groups of people are followed over time to see who develops an outcome. Strong for identifying risk factors and associations, but cannot prove causation as firmly as RCTs.
Key takeaways
Summary
Based on the study abstract and findings.
- 1This means the drug could work well for some glaucoma patients but not others — depending on their genes — and might lead to personalized eye drop treatments.
- 2In mice with one version of the gene, eye pressure dropped by up to 30% after using pregabalin eye drops; in mice with another version, pressure barely changed.
Score breakdown, methodology, conflicts of interest, evidence analysis & raw study data
Publication
Journal
Nature Communications
Year
2017
Authors
Sumana R. Chintalapudi, D. Maria, Xiang Di Wang, J. C. Bailey, Rand Murray Don John Douglas Teresa Jonathan L. Lisa Mi Allingham Brilliant Budenz Fingert Gaasterland Gaa, R. Allingham, Murray H. Brilliant, Don Budenz, J. Fingert, Douglas Gaasterland, Teresa Gaasterland, Jonathan L. Haines, L. Hark, Michael A. Hauser, R. Igo, Jae Hee Kang, P. Kraft, Richard K Lee, P. Lichter, Yutao Liu, Syoko Moroi, L. Pasquale, M. Pericak‐Vance, A. Realini, Doug Rhee, J. R. Richards, R. Ritch, J. Schuman, William K. Scott, Kuldev Singh, A. Sit, Douglas Vollrath, G. Wollstein, Donald J. Zack, Tin Peter Cheng-Yu Jamie Cornelia Puya Adriana Christo Aung Bonnemaijer Cheng Craig van Duijn Gharahkhani, T. Aung, Pieter W. M. Bonnemaijer, Cheng Y. Cheng, J. Craig, C M van Duijn, P. Gharahkhani, A. Iglesias González, Christopher J. Hammond, A. Hewitt, René Hoehn, Fridbert Jonansson, A. Khawaja, Chiea Chuen Khor, C. Klaver, A. Lotery, D. Mackey, Stuart MacGregor, C. Pang, Francesca Pasutto, K. Stefánsson, G. Thorleifsson, U. Thorsteinsdottir, V. Vitart, E. Vithana, Terri L. Young, T. Zeller, P. Hysi, J. Wiggs, Robert W. Williams, M. Jablonski
Related Content
Claims (6)
Higher pressure inside the eye directly increases the chance of damage to the optic nerve, and lowering that pressure reduces the risk of such damage.
The CACNA2D1 protein is present in two eye tissues that control the flow of fluid inside the eye.
Specific changes in the CACNA2D1 gene are linked to higher eye pressure in mice and a greater risk of primary open angle glaucoma in humans, with more CACNA2D1 protein in the eye corresponding to higher pressure levels.
In mice with a specific genetic variant (Cacna2d1 B haplotype), eye drops containing 0.9% pregabalin lower eye pressure by up to 30%. In mice with a different genetic variant (Cacna2d1 D haplotype), the same eye drops have little to no effect on eye pressure.
In mice, differences in the CACNA2D1 gene's activity between genetic strains correlate with changes in eye pressure that occur with aging.
Variations in the CACNA2D1 gene are associated with changes in intraocular pressure due to the gene's role in calcium channel function in eye tissues that regulate fluid drainage.
Not medical advice. For informational purposes only. Always consult a qualified healthcare professional before making health decisions.