June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Impact of tumor necrosis factor receptor 1 (TNFR1) polymorphism on dry eye disease
Author Affiliations & Notes
  • Anjalee Choudhury
    Ophthalmology, VA Miami Healthcare System, Miami, Florida, United States
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Daniel Rodriguez
    Ophthalmology, VA Miami Healthcare System, Miami, Florida, United States
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Victor L Perez
    Foster Center for Ocular Immunology, Duke University Department of Ophthalmology, Durham, North Carolina, United States
  • Anat Galor
    Ophthalmology, VA Miami Healthcare System, Miami, Florida, United States
    Ophthalmology, University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, United States
  • Footnotes
    Commercial Relationships   Anjalee Choudhury None; Daniel Rodriguez None; Victor Perez None; Anat Galor None
  • Footnotes
    Support  Education grant provided by Oculis
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 1527 – A0252. doi:
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    • Get Citation

      Anjalee Choudhury, Daniel Rodriguez, Victor L Perez, Anat Galor; Impact of tumor necrosis factor receptor 1 (TNFR1) polymorphism on dry eye disease. Invest. Ophthalmol. Vis. Sci. 2022;63(7):1527 – A0252.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Dry eye (DE) is a multifactorial disease with numerous presenting phenotypes and potential contributors. In order to deliver precision medicine, a better understanding of an individual’s contributors to disease is needed. Genetic polymorphisms have previously been shown to influence disease presentation and course in diseases relevant to DE, such as in chronic pain syndromes. However, the impact of genetic polymorphisms on DE presentation and treatment response have not been well characterized. A previous study examined the impact of rs1800693 (chr12, alleles: T/C), a single nucleotide polymorphism (SNP) within the tumor necrosis factor receptor 1 (TNFR1) gene. Individuals with DE and homozygous alternate CC alleles were found to have a better symptomatic response to OCS-02 (a topical TNFα antibody) compared to those with a TC or TT alleles. Building on this data, in the current study, we examine the frequency of a CC genotype in a novel population, South Florida veterans, and investigate whether the presence of this genotype impacts disease phenotype and response to anti-inflammatory therapy.

Methods : Prospective study of 328 individuals with a variety of DE symptoms and signs who underwent genetic profiling for rs1800693 (TT, TC, CC). The frequency of genotype CC was examined as were relationships between genotype and phenotype and response to an anti-inflammatory agent.

Results : The mean age of the population was 61.7±9.8 years, 92% self-identified as male, 56% as white, and 21% as Hispanic. 13% (n=42) individuals had a CC genotype, which was equally distributed between races but was less common in Hispanics. The presence of a CC genotype (as compared to TT and TC) did not influence the DE phenotype with similar DE symptoms and signs between the groups. In all, 30 individuals (4 with CC) were treated with an anti-inflammatory agent. There was a trend for individuals with CC genotype to have a partial or complete response to treatment compared to the other two groups (100% vs 38.5%, p=0.07).

Conclusions : The presence of homozygosity of risk allele C (CC genotype) in a SNP within TNFR1 was noted in a minority of individuals with various aspects of DE. However, this genotype did not relate to DE phenotype but did impact treatment response. These finding suggest that current phenotyping strategies in DE are not sufficient to identify underlying contributors to disease, including potential genetic contributors.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

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