Molecular causes of primary angle-closure glaucoma

• Applicant: Dr. Maolian Gong, Ph.D.
• Subject Area: Molecular Biology and Physiology of Neurons and Glial Cells
• Term: from 2010 to 2014
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 166300301

Glaucoma is a leading cause of irreversible blindness worldwide. Glaucoma is generally believed to be a complex genetic disease. The inheritance of primary angle-closure glaucoma (PACG) is estimated to be 65% and its most important intermediate phenotype, anterior chamber depth, is 70-90%. So far, no disease locus has been identified for PACG. Several association studies on candidate genes of PACG have been performed with irreproducible results. Certified opthalmologists have recruited 100 families with angle-closure glaucoma in the Hebei province of China. These families stem from a relative isolated population. This collection of subjects could represent a resource with relevance far beyond China and could be a “sight-giving collection” for this devastating disease. We will complete genome-wide linkage analysis with the Affymetrix Human Mapping 10K array (HMA10K). More sensitive tools will then be applied as indicated. We will perform parametric and non-parametric linkage analysis, and will extend data analysis into haplotype-sharing statistics. Identified linkage regions will be screened for relevant mutations using different approaches. Finally, functional analysis of the defect genes and pathways will be carried out, which will provide valuable information about the molecular mechanisms underlying PACG and consequently facilitate the diagnosis, prevention and treatment of the disease. Our goal is to reduce blindness in the total population.

• DFG Programme: Research Grants