NYMC Faculty Publications

Blinding Eye Disease and Associated Genetic and Epidemiological Factors in a Mayan Population of Guatemala

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Investigative Ophthalmology & Visual Science

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Purpose : The Mayan population in Guatemala is understudied within vision research. This observational cohort of individuals seeking eye care may help identify unique clinical, demographic, environmental, and genetic factors for blinding eye disease. This study will serve to (a) identify the ocular health needs within this population and (b) any possible modifiable risk factors.

Methods : We conducted a cross-sectional study with 126 participants. Each received an eye exam, provided a blood sample, and were administered a standardized epidemiological questionnaire at the Lion's Eye Hospital in Salama, Guatemala. Interpreters were available for translation to the patients' native dialect. We also performed a genome-wide association study using Illumina's HumanOmni2.5-8 chip to examine SNPs. We used quality control measures and performed a logistic regression analysis to determine which genetic components were associated with eye disease.

Results : The population was 46% male, and the average age was 65.2. 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%. We conducted multivariate analyses to determine which epidemiological factors were significantly associated with the population's eye conditions at p<.05. In our epidemiological analysis, including 121 participants for completeness, we found that eye disease was significantly more likely 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 age and sex. In our genetic analysis, the SNP most significantly associated with PXF is within the gene KSR2 (p<1 x 10-5). Several SNP's were associated with Cataracts at Genome-Wide significance adjusting for covariates (p<5 x 10-8). Almost three-quarters of these SNPs lie within 13 genes, with the majority of genes having only one significant SNP.

Conclusions : To the best of our knowledge utilizing PhenGenI, these SNP's and genes have not been previously associated with cataracts, glaucoma, or PXF. This study can aid in understanding the prevalence of eye conditions in this population but may also inform public health planning and delivering of quality, accessible and relevant health and preventative care within Guatemala.