Abstract
Purpose :
Despite numerous studies, molecular and environmental factors that contribute to glaucoma remain elusive. We analyzed genome-wide genetic data for association with glaucoma among black and white Health and Retirement Study (HRS) respondents, and to determine the feasibility for future analyses examining shared genetic markers between glaucoma and other comorbidities, behaviors, and environmental risk factors.
Methods :
The University of Michigan HRS is a longitudinal survey of a representative sample of Americans over the age of 50, designed to provide reliable data on the decisions, choices, and behaviors of people as they age. The study obtains information every two years about income and wealth, health and use of health services, work and retirement, and family connections. Saliva was collected on half of the HRS samples each wave starting in 2006 and respondents were genotyped on the Illumina Human Omni2.5-Quad BeadChip. We accessed survey results to evaluate prevalence of glaucoma in this dataset and performed a genome-wide association study (GWAS) adjusting for age, sex, and significant Principal Components and stratifying by self-reported race (White / Black).
Results :
Of 8179 respondents passing quality filters, 78.40% were white and 12.05% were black. Self-reported glaucoma prevalence was 7.85% and 16.34% in white and black respondents, respectively. White respondents had a mean age of 76.97 and were 57.25% female. Black respondents had a similar mean age of 74.96 and were 62.54% female. Preliminary GWAS analyses did not replicate known glaucoma loci and no variants attained genome-wide significance. A suggestive variant (p<1e-05) in the black population was within 10kb of a known locus, rs1196998. Future analyses will evaluate genetic association with combinations of glaucoma and comorbidities.
Conclusions :
Glaucoma risk is higher in minority groups than in whites, and the majority of reported genetic studies of glaucoma have been performed in individuals of European descent. It is imperative to better understand the role of genetics, environment, and health behavior in glaucoma risk. Further, understanding common mechanisms underlying diseases that co-occur with glaucoma could illuminate novel disease mechanisms that can be targeted for early intervention and/or treatment.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.