Dry Eye Symptom Severity Correlated With Genomic Variants

Woman holds hand up to pain behind eye
Woman holds hand up to pain behind eye
A genome-wide association study shows a link between the variants and ocular surface symptoms, but not signs.

This article is part of Ophthalmology Advisor’s Dry Eye Disease In-Depth coverage from the 2021 meeting of the American Academy of Ophthalmology, held in New Orleans from November 12 to 15, 2021. The team at Ophthalmology Advisor will be reporting on a variety of the research presented by the dry eye disease experts at the AAO. Check back for more from the AAO 2021 Meeting.


Single nucleotide polymorphisms (SNPs) may be associated with dry eye symptom severity, according to data presented at the American Academy of Ophthalmology 2021 meeting, held in New Orleans, November 12 to November 15. 

Presenters at the meeting revealed findings of a study that evaluated the relationship between SNP identified from a genome-wide association study (GWAS) of dry eye with comorbid conditions, quantitative sensory testing, and other dry eye signs and symptoms.

The GWAS assessed more than 10 million SNPs following imputation using DNA from 328 patients. The team used a modified version of the Neuropathic Pain Symptom Inventory for the eye (NPSIe) to assess dry eye. They also incorporated the results of the Patient Health Questionnaire-9 (PHQ9) and migraine questionnaires. Dry eye signs were also evaluated by ocular exam including tear breakup time, corneal staining and Schirmer test. 

Results indicate that NPSIe is associated with 2 specific SNPs, rs60979431 (MAF 0.11)(P =2.85E-7) and rs144685507 (MAF 0.11)(P =4.6E-7). Both were correlated with worse ocular pain (P =.049, P =.01, respectively), and rs144685507 was also associated with chronic migraine (P =.022), as well as PTSD (P =.017) and abnormal QST (P =.035). 

However, neither SNP was correlated to DE signs. Researchers concluded that dry eye single nucleotide polymorphisms are linked to ocular pain and to disease comorbidities but not necessarily to dry eye signs. 

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Rodriguez D, Levitt RC, Felix ER, Galor A. Dry eye disease GWAS identifies genomic variants correlated with symptom severity and comorbidities but not DE signs. Poster presented at: The American Academy of Ophthalmology 2021 Annual Meeting; November 12-15, 2021; New Orleans. Abstract PO055.