A genome-wide association study (GWAS) of dry eye (DE) suggests DE-associated single nucleotide polymorphisms (SNPs) are correlated with increased ocular pain and comorbidities, but not with DE signs, according to study co-author Anat Galor, MD, MSPH, Staff Physician and Ophthalmologist at the Miami Veteran Affairs Medical Center, and Professor of Ophthalmology at the University of Miami. Dr. Galor and colleagues evaluated the relationship between SNPs identified from a GWAS of DE with comorbid conditions, quantitative sensory testing (QST), and other DE symptoms and signs.
A GWAS was conducted on more than 10 million SNPs after imputation, with DNA from 329 patients recruited from a Miami VA eye clinic cross-sectional study. DE was assessed primarily by the modified Neuropathic Pain Symptom Inventory for the eye. Additional symptoms were evaluated, including via self-reported pain rating, PHQ-9, PTSD assessment, and migraine questionnaires. DE signs were determined by ocular exam (tear breakup time, corneal staining, and Schirmer test).
The researchers found that some SNPs of interest were associated with worse ocular pain (P=0.01), PTSD (P=.017), chronic migraine (P=0.022), and abnormal QST (P=0.035) but not with DE signs.
“Now that a few genetic polymorphisms have been found for eye pain, we can potentially leverage this information to improve proper patient stratification and investigate the biological impact these SNPs have on eye pain and come up with treatments to target it,” says Dr. Galor.