Amish Study to Understand Glaucoma Genetics

We know that genetics and environment play a role in glaucoma risk, but most of the people who have been studied are different on many levels. We want to study glaucoma in the Amish, a group that is essentially a very large family. We think that by understanding glaucoma risk in the Amish, we can learn more about the genes and pathways that influence this disease. This knowledge will serve to better inform preventative and treatment strategies relevant to the millions of people throughout the world who will likely acquire glaucoma unless new ways of understanding disease risk and prevention are developed.

With the Genetics of Glaucoma Evaluation in the Amish pilot study (GGLEAM), we will study an Amish population concentrated in Holmes County, Ohio, wherein primary open-angle glaucoma is present, with the goal of identifying a novel genetic contributor to this disease.  We know that genetics and environment play a role in glaucoma risk, but most people who have been studied thus far are different on many levels including (i) the specific subtype of glaucoma they have, (ii) their genetic backgrounds are diverse and therefore complicated, and (iii) their environmental exposures vary widely. We will study glaucoma in the Amish, essentially a very large family, because (i) they are more likely to have the same type of glaucoma, (ii) their genetic backgrounds are more similar, and therefore there is less confusing “noise” to sift through when performing genetic analyses, and (iii) they have fairly uniform lifestyles and, therefore, their environmental exposures are more similar to one another (compared to other groups wherein glaucoma has been studied). We will examine their eyes, get detailed medical histories, evaluate their environmental exposures and lifestyle choices, and get blood so we can study their genetics from a genome-wide perspective, applying techniques that are specifically useful for large family studies. By understanding glaucoma risk in the Amish, we can learn more about the genes and pathways that influence this disease and apply this knowledge to better-inform preventative and treatment strategies.