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The GGLEAM Study: Understanding Glaucoma in the Ohio Amish

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 descr...

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Autores principales: Waksmunski, Andrea R., Song, Yeunjoo E., Kinzy, Tyler G., Laux, Reneé A., Sewell, Jane, Fuzzell, Denise, Fuzzell, Sarada, Miller, Sherri, Wiggs, Janey L., Pasquale, Louis R., Skarie, Jonathan M., Haines, Jonathan L., Cooke Bailey, Jessica N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915874/
https://www.ncbi.nlm.nih.gov/pubmed/33561996
http://dx.doi.org/10.3390/ijerph18041551
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author Waksmunski, Andrea R.
Song, Yeunjoo E.
Kinzy, Tyler G.
Laux, Reneé A.
Sewell, Jane
Fuzzell, Denise
Fuzzell, Sarada
Miller, Sherri
Wiggs, Janey L.
Pasquale, Louis R.
Skarie, Jonathan M.
Haines, Jonathan L.
Cooke Bailey, Jessica N.
author_facet Waksmunski, Andrea R.
Song, Yeunjoo E.
Kinzy, Tyler G.
Laux, Reneé A.
Sewell, Jane
Fuzzell, Denise
Fuzzell, Sarada
Miller, Sherri
Wiggs, Janey L.
Pasquale, Louis R.
Skarie, Jonathan M.
Haines, Jonathan L.
Cooke Bailey, Jessica N.
author_sort Waksmunski, Andrea R.
collection PubMed
description 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.
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spelling pubmed-79158742021-03-01 The GGLEAM Study: Understanding Glaucoma in the Ohio Amish Waksmunski, Andrea R. Song, Yeunjoo E. Kinzy, Tyler G. Laux, Reneé A. Sewell, Jane Fuzzell, Denise Fuzzell, Sarada Miller, Sherri Wiggs, Janey L. Pasquale, Louis R. Skarie, Jonathan M. Haines, Jonathan L. Cooke Bailey, Jessica N. Int J Environ Res Public Health Article 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. MDPI 2021-02-06 2021-02 /pmc/articles/PMC7915874/ /pubmed/33561996 http://dx.doi.org/10.3390/ijerph18041551 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Waksmunski, Andrea R.
Song, Yeunjoo E.
Kinzy, Tyler G.
Laux, Reneé A.
Sewell, Jane
Fuzzell, Denise
Fuzzell, Sarada
Miller, Sherri
Wiggs, Janey L.
Pasquale, Louis R.
Skarie, Jonathan M.
Haines, Jonathan L.
Cooke Bailey, Jessica N.
The GGLEAM Study: Understanding Glaucoma in the Ohio Amish
title The GGLEAM Study: Understanding Glaucoma in the Ohio Amish
title_full The GGLEAM Study: Understanding Glaucoma in the Ohio Amish
title_fullStr The GGLEAM Study: Understanding Glaucoma in the Ohio Amish
title_full_unstemmed The GGLEAM Study: Understanding Glaucoma in the Ohio Amish
title_short The GGLEAM Study: Understanding Glaucoma in the Ohio Amish
title_sort ggleam study: understanding glaucoma in the ohio amish
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915874/
https://www.ncbi.nlm.nih.gov/pubmed/33561996
http://dx.doi.org/10.3390/ijerph18041551
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