The role of DNA sequence variants in AMD: Identification and molecular genetic analysis of candidate genes

• Applicant: Professor Dr. Andreas Gal
• Subject Area: Ophthalmology
• Term: from 2000 to 2003
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 5244018

Different mutations of the same gene may lead to largely different phenotypes. Therefore any gene implicated in one form of retinal dystrophy is also a candidate gene for the age related macular degeneration (AMD). We propose to map and identify novel genes for various forms of inherited retinal dystrophies in large consanguineous families by the "homozygosity mapping" approach and to study the involvement of these genes in AMD. In addition, a systematic analysis of single-nucleotide polymorphisms (SNP) will be performed in the genes involved in the vitamin A cycle (e.g. those encoding RPE65, RLBP1, RDH5, LRAT, IRBP, alltrans retinol dehydrogenase, CRBP, or TTR) in the retinal pigment epithelium. We will determine the nature and frequency of these SNPs and search for associations of allele combinations from multiple genes in patients with AMD.

• DFG Programme: Priority Programmes
• Subproject of: SPP 1088: Age-Related Macular Degeneration