The GGLEAM Study: Understanding Glaucoma in the Ohio Amish

Andrea R. Waksmunski, Yeunjoo E. Song, Tyler G. Kinzy, Reneé A. Laux, Jane Sewell, Denise Fuzzell, Sarada Fuzzell, Sherri Miller, Janey L. Wiggs, Louis R. Pasquale, Jonathan M. Skarie, Jonathan L. Haines and Jessica N. Cooke Bailey
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Andrea R. Waksmunski: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Yeunjoo E. Song: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Tyler G. Kinzy: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Reneé A. Laux: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Jane Sewell: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Denise Fuzzell: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Sarada Fuzzell: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Sherri Miller: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Janey L. Wiggs: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
Louis R. Pasquale: Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Jonathan M. Skarie: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Jonathan L. Haines: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
Jessica N. Cooke Bailey: Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA

IJERPH, 2021, vol. 18, issue 4, 1-13

Abstract: Glaucoma leads to millions of cases of visual impairment and blindness around the world. Its susceptibility is shaped by both environmental and genetic risk factors. Although over 120 risk loci have been identified for glaucoma, a large portion of its heritability is still unexplained. Here we describe the foundation of the Genetics of GLaucoma Evaluation in the AMish (GGLEAM) study to investigate the genetic architecture of glaucoma in the Ohio Amish, which exhibits lower genetic and environmental heterogeneity compared to the general population. To date, we have enrolled 81 Amish individuals in our study from Holmes County, Ohio. As a part of our enrollment process, 62 GGLEAM study participants (42 glaucoma-affected and 20 unaffected individuals) received comprehensive eye examinations and glaucoma evaluations. Using the data from the Anabaptist Genealogy Database, we found that 80 of the GGLEAM study participants were related to one another through a large, multigenerational pedigree containing 1586 people. We plan to integrate the health and kinship data obtained for the GGLEAM study to interrogate glaucoma genetics and pathophysiology in this unique population.

Keywords: glaucoma; vision; endophenotype; family history; founder population; Amish (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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