Research and Genome-Wide Association Scan for Age-related Macular Degeneration

Genome-Wide Association Scan for Age-related Macular Degeneration...Age-related macular degeneration (AMD) is a progressive neurodegenerative disease of the macular region of the retina. It affects the aging population in developed countries, causing loss of central vision and accounts for 50 percent of blindness.NEI investigators in collaboration with more than twenty universities and research institutions in the U.S. and Europe completed the first genome-wide association scan (GWAS) for age-relatedmacular degeneration (AMD). GWAS are designed to identify common variants implicated in common diseases, which are normally not covered by linkage studies. Known AMD susceptibility loci near complement factor H (CFH), age-related maculopathy susceptibility 2 (ARMS2), complement component 2/complement factor B (C2/CFB), complement component 3 (C3),and complement factor I (CFI) were confirmed by this study. Other previously suggested susceptibility loci did not show significance with P<0.05. However, in some cases a trend was observed in the same direction as that of the published data. The three strongest signals were associated with loci in the synapsin III (SYN3)/ tissue inhibitor of metalloproteinase 3 (TIMP3) region, the hepatic lipase (LIPC) and cholesteryl ester transfer protein (CETP) genes. The SYN3/TIMP3 susceptibility locus had been previously linked to AMD. It is a large intron in the SYN3 gene (involved in neurotransmission and synapseformation) that also contains the TIMP3 gene (involved in extracellularmatrix degradation and implicated in early-onset maculopathy Sorby'sfundus dystrophy).

AMD is a raising public health concern because of the constant increase in the aging population. The identification of susceptibility variants associated with AMD may contribute to the prediction of individual risk of AMD.This, in association with the identification of molecular and cellular pathways involved in the pathogenesis of the disease can lead to better preventive and therapeutic interventions.

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References:http://www.nei.nih.gov/news/scienceadvances/advances/amd.asp