Genetic Studies of POAG in Hispanic Americans

Principal Investigator

Detailed Non-Technical Summary

The objective of this research is to examine Hispanic individuals and eventually, families with Primary Open-Angle Glaucoma (POAG) who live in the regions around Tucson, Arizona for a genetic mutation that leads to glaucoma. Dr. Allingham has hypothesized that optineurin (OPTN), a gene known to be associated with normal-tension POAG, may play an important role in the development of glaucoma in Hispanics. In order to explore this hypothesis, Dr. Allingham's team is evaluating one hundred unrelated individuals with POAG, and an equal number of age- and sex-matched control subjects. Blood samples will be drawn for DNA analysis and genetic studies, and these samples will then be analyzed at the Center for Genetics at Duke University. The first objective of this proposal is to help elucidate this potential causative factor in a Hispanic population. The long-term goal will be to collect multiplex families (families containing multiple affected members) for genetic linkage analysis. This will help determine the role of mutations in known genes that cause POAG in this population, screen new genes as they are discovered, and contribute to the process of discovering currently unknown genes that affect Hispanic Americans.

Publications

Liu L, Schmidt S, Qin X, Gibson J, Hutchins K, Santiago-Turla D, Wiggs JL, Budenz DL, Akafo S, Challa P, Herndon LW, Hauser MA, Allingham RR. Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. Invest Ophthalmol Vis Sci, 49:3465-3468, 2008.  

Liu Y, Schmidt S, Qin X, Gibson J, Munro D, Wiggs JL, Hauser MA, Allingham RR. No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations. Molecular Vision, 13:2137-41, 2007  
 

First published on: June 11, 2008

Last modified on: February 04, 2023