Genetics and Epidemiology

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Glaucoma causes irreversible degeneration of the optic nerve, usually associated with elevated pressure in the eye. This disease is the third leading cause of blindness among all Americans, and is the leading cause of blindness in African Americans. Several of our research programs are directed at the identification of genetic and environmental factors that contribute to glaucoma.
Family History of Glaucoma Project
A family history is one of the most important risk factors for glaucoma, and this project has been studying families with glaucoma for over 15 years. This work has been supported by the National Eye Institute and is currently funded by two grants (NEI EY009847, and NEI EY0 015872). Dr. Wiggs is the principle investigators for this study. The overall goal of this project is to identify the genetic factors responsible for glaucoma. Genetic factors that are known to contribute to glaucoma can be used to develop novel methods to screen patients at risk for glaucoma and to diagnose and treat patients with glaucoma. We are actively recruiting patients and family members for this study. Eligible participants should meet the following criteria:

  • Diagnosis of glaucoma
  • At least one living relative who has also been diagnosed with glaucoma.

If eligible, you and your family members will receive a free eye exam either at Massachusetts Eye and Ear. If your family, or a family you know, is interested, call the Family History of Glaucoma Project Study line for more information at: (800) 368-8143.

Gene-Environment Interaction in Glaucoma Project

For chronic progressive diseases such as glaucoma, genetic and environmental factors are likely to work together to cause blindness. The goal of this study is to identify environmental factors that contribute to glaucoma and to investigate the interactions between environmental factors and genetic factors in the disease. This project is funded by the National Eye Institute (EY015473). Dr. Pasquale is the principle investigator of the study.
Research Findings and Reports

The following is a sample of important research findings which have furthered our understanding of the factors that contribute to glaucoma.

  • Kang JH, Willett WC, Rosner BA, Hankinson SE, Pasquale LR. Caffeine consumption and the risk of primary open-angle glaucoma: a prospective cohort study. Invest Ophthalmol Vis Sci. 2008 May;49(5):1924-31.
  • Pasquale LR, Rosner BA, Hankinson SE, Kang JH. Attributes of female reproductive aging and their relation to primary open-angle glaucoma: a prospective study. J Glaucoma. 2007 Oct-Nov;16(7):598-605.PMID: 18091177
  • Kang JH, Willett WC, Rosner BA, Hankinson SE, Pasquale LR. Prospective study of alcohol consumption and the risk of primary open-angle glaucoma. Ophthalmic Epidemiol. 2007 May-Jun;14(3):141-7.PMID: 17613849
  • Kang JH, Pasquale LR, Willett WC, Rosner BA, Egan KM, Faberowski N, Hankinson SE. Dietary fat consumption and primary open-angle glaucoma. Am J Clin Nutr. 2004 May;79(5):755-64.PMID: 15113712
  • Wiggs JL. Genomic promise: personalized medicine for ophthalmology. Arch Ophthalmol. 2008 Mar;126(3):422-3. No abstract available. PMID: 18332327
  • Fan BJ, Pasquale L, Grosskreutz CL, Rhee D, Chen T, DeAngelis MM, Kim I, del Bono E, Miller JW, Li T, Haines JL, Wiggs JL.DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet. 2008 Feb 6;9:5.PMID: 18254956
  • Wiggs JL. Genetic etiologies of glaucoma. Arch Ophthalmol. 2007 Jan;125(1):30-7. PMID: 17210849
  • Wiggs JL, Lynch S, Ynagi G, Maselli M, Auguste J, Del Bono EA, Olson LM, Haines JL. A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.Am J Hum Genet. 2004 Jun;74(6):1314-20.