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The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
Gabriel Bsteh1,2, Ruchi Tanavade3, Nik Krajnc1,2
1Department of Neurology, Medical University of Vienna, Vienna, Austria.
Annals of Clinical and Translational Neurology
|August 5, 2025
Summary
The rs10191329 risk allele is linked to faster retinal thinning in relapsing multiple sclerosis (RMS) patients, indicating increased neuroaxonal damage. This genetic factor may influence neuroprotection strategies in MS clinical trials.
Area of Science:
- Neuroscience
- Genetics
- Ophthalmology
Background:
- Relapsing multiple sclerosis (RMS) involves neuroaxonal damage, a process potentially influenced by genetic factors.
- Retinal layer thinning, measurable via optical coherence tomography (OCT), serves as a biomarker for neuroaxonal damage in neurological conditions.
- The DYSF-ZNF638 locus and its rs10191329 variant have been associated with central nervous system resilience.
Purpose of the Study:
- To determine if the rs10191329 risk allele is associated with retinal layer thinning in RMS patients.
- To investigate the relationship between this genetic variant and neuroaxonal damage biomarkers in the absence of optic neuritis.
Main Methods:
- A prospective observational study included 183 RMS patients with at least two OCT scans.
- DNA samples were genotyped, and genetic variants were imputed.
- Multivariable linear regression models assessed the association between the rs10191329 risk allele and annualized rates of peripapillary retinal nerve fiber layer (aLpRNFL) and macular ganglion-cell-and-inner-plexiform-layer (aLGCIPL) atrophy.
Main Results:
- Each rs10191329 risk allele (rs10191329*A) was significantly associated with an increased annualized rate of aLpRNFL atrophy (0.10%/year) and aLGCIPL atrophy (0.11%/year).
- The rs10191329 variant accounted for 8.9% of the variance in GCIPL atrophy and 8.2% in pRNFL atrophy.
- These findings were adjusted for age, sex, MS-specific factors, and ancestry components.
Conclusions:
- Carriers of the rs10191329 risk allele exhibit accelerated retinal atrophy, suggesting heightened neuroaxonal vulnerability in RMS.
- While the direct clinical implications are yet to be determined, genetic stratification based on this variant could be valuable in neuroprotection clinical trials for MS.
