The Role of Myocilin Mutations in POAG in West Africa
Detailed Non-Technical Summary
Primary Open Angle Glaucoma (POAG) is 4-6 times more prevalent among Americans of African descent than among white Americans. The disease is also clinically more severe and more likely to cause blindness in African-Americans. Many black Americans are of West African descent and, not surprisingly, glaucoma in West Africa appears to be common, is characterized by early onset, and is often severe, making this population an excellent subject for study of the genetic aspects of glaucoma. Dr. Allingham is collecting DNA samples from affected and unaffected people in the country of Ghana, where he is working closely with a major eye clinic in the capital city of Accra. This study is using a more genetically homogenous population than can be found in the US, but the results will be highly relevant for African-Americans. The DNA samples are being assessed first to determine if these individuals carry mutations in the myocilin/TIGR gene, which has been associated with POAG in young and older adults worldwide. Identifying new mutations in this gene could provide additional information on its role in glaucoma, and if mutations are not found in TIGR, then the DNA samples will provide an important resource for identifying other genes that may be involved in glaucoma.
Liu Y. Akafo S. Santiago-Turla C. Cohen CS. Larocque-Abramson KR. Qin X. Herndon LW. Challa P. Schmidt S. Hauser MA. Allingham RR. Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma. Molecular Vision, 14:2367-72,2008
Challa, P., Herndon, L.W., Hauser, M.A., Broomer, B., Pericak-Vance, M.A., Ababio-Danso, B., Allingham, R.R. (2002) Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. Journal of Glaucoma. 11(5):416-420.
Herndon, L.W., Challa, P., Ababio-Danso, B., Boateng, J.O., Broomer, B., Ridenhour, P., Allingham, R.R. (2002) Survey of glaucoma in an eye clinic in Ghana, West Africa. Journal of Glaucoma. 11(5):421-425.