Pseudoexfoliation and Cataract Syndrome Associated with Genetic and Epidemiological Factors in a Mayan Cohort of Guatemala

Patrice M. Hicks, Elizabeth Au, William Self, Benjamin Haaland, Michael Feehan, Leah A. Owen, Adam Siedlecki, Elizabeth Nuttall, Deborah Harrison, Andrew L. Reynolds, John H. Lillvis, Sandra Sieminski, Julia P. Shulman, Margarita Barnoya, Juan Jose Noguera Prera, Orlando Gonzalez, Maureen A. Murtaugh, Lloyd B. Williams, Michael H. Farkas, Alan S. Crandall and Margaret M. DeAngelis
Additional contact information
Patrice M. Hicks: Department of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
Elizabeth Au: Department of Ophthalmology, Jacobs School of Medicine and Biomedical Engineering, SUNY—University at Buffalo, Buffalo, NY 14214, USA
William Self: Department of Ophthalmology and Visual Sciences, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Benjamin Haaland: Department of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
Michael Feehan: Department of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
Leah A. Owen: Department of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
Adam Siedlecki: Department of Ophthalmology, Jacobs School of Medicine and Biomedical Engineering, SUNY—University at Buffalo, Buffalo, NY 14214, USA
Elizabeth Nuttall: Department of Ophthalmology and Visual Sciences, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Deborah Harrison: Department of Ophthalmology and Visual Sciences, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Andrew L. Reynolds: Department of Ophthalmology, Jacobs School of Medicine and Biomedical Engineering, SUNY—University at Buffalo, Buffalo, NY 14214, USA
John H. Lillvis: Department of Ophthalmology, Jacobs School of Medicine and Biomedical Engineering, SUNY—University at Buffalo, Buffalo, NY 14214, USA
Sandra Sieminski: Department of Ophthalmology, Jacobs School of Medicine and Biomedical Engineering, SUNY—University at Buffalo, Buffalo, NY 14214, USA
Julia P. Shulman: Department of Ophthalmology, New York Medical College, Valhalla, NY 10595, USA
Margarita Barnoya: Salama Lions Eye Club Hospital, Salama 150001, Guatemala
Juan Jose Noguera Prera: Salama Lions Eye Club Hospital, Salama 150001, Guatemala
Orlando Gonzalez: Salama Lions Eye Club Hospital, Salama 150001, Guatemala
Maureen A. Murtaugh: Department of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
Lloyd B. Williams: Department of Ophthalmology, Duke University, Durham, NC 27710, USA
Michael H. Farkas: Department of Ophthalmology, Jacobs School of Medicine and Biomedical Engineering, SUNY—University at Buffalo, Buffalo, NY 14214, USA
Alan S. Crandall: Department of Ophthalmology and Visual Sciences, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Margaret M. DeAngelis: Department of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT 84108, USA

IJERPH, 2021, vol. 18, issue 14, 1-27

Abstract: The Mayan population of Guatemala is understudied within eye and vision research. Studying an observational homogenous, geographically isolated population of individuals seeking eye care may identify unique clinical, demographic, environmental and genetic risk factors for blinding eye disease that can inform targeted and effective screening strategies to achieve better and improved health care distribution. This study served to: (a) identify the ocular health needs within this population; and (b) identify any possible modifiable risk factors contributing to disease pathophysiology within this population. We conducted a cross-sectional study with 126 participants. Each participant completed a comprehensive eye examination, provided a blood sample for genetic analysis, and received a structured core baseline interview for a standardized epidemiological questionnaire at the Salama Lions Club Eye Hospital in Salama, Guatemala. Interpreters were available for translation to the patients’ native dialect, to assist participants during their visit. We performed a genome-wide association study for ocular disease association on the blood samples using Illumina’s HumanOmni2.5-8 chip to examine single nucleotide polymorphism SNPs in this population. After implementing quality control measures, we performed adjusted logistic regression analysis to determine which genetic and epidemiological factors were associated with eye disease. We found that the most prevalent eye conditions were cataracts (54.8%) followed by pseudoexfoliation syndrome (PXF) (24.6%). The population with both conditions was 22.2%. In our epidemiological analysis, we found that eye disease was significantly associated with advanced age. Cataracts were significantly more common among those living in the 10 districts with the least resources. Furthermore, having cataracts was associated with a greater likelihood of PXF after adjusting for both age and sex. In our genetic analysis, the SNP most nominally significantly associated with PXF lay within the gene KSR2 ( p < 1 × 10 ?5 ). Several SNPs were associated with cataracts at genome-wide significance after adjusting for covariates ( p < 5 × 10 ?8 ). About seventy five percent of the 33 cataract-associated SNPs lie within 13 genes, with the majority of genes having only one significant SNP (5 × 10 ?8 ). Using bioinformatic tools including PhenGenI, the Ensembl genome browser and literature review, these SNPs and genes have not previously been associated with PXF or cataracts, separately or in combination. This study can aid in understanding the prevalence of eye conditions in this population to better help inform public health planning and the delivery of quality, accessible, and relevant health and preventative care within Salama, Guatemala.

Keywords: genetic epidemiology; genetic; epidemiology; cataract; pseudoexfoliation syndrome; isolated population; global health; eye care (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2021
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