Genetics of Age-Related Macular Degeneration in the Amish

Identifying genetic risk loci for Age-Related Macular Degeneration is important. Most of the loci identified to date have been found through the interrogation of common variants. This study initiates the identification of rare variants in a founder population, the Amish, and will use genotyping of known risk loci and ultimately use the whole exome chip to assess the association of Age-related Macular Degeneration with coding variants. We will further refine the Age-Related Macular Degeneration phenotype through the use of modern imaging, the OCT, to visualize the early anatomic signs of Age-Related Macular Degeneration. We hypothesize there are endophenotypes associated with specific genotypes that can be used to determine Age-related Macular Degeneration progression. These endophenotypes are hypothesized to be influenced by a combination of common and rare variants. We will relate these endophenotypes to genotypes to define the role of genetics in the progression of Age-Related Macular Degeneration and a new risk profile incorporating genotypic information.]]>
AMISHAMD data Summary Statistics for dbGaPLocus ID (rsID) and associated p-value can be found in the public ftp site. The full data set, including allele frequencies, is accessible through dbGaP Authorized Access.
]]>Locus ID (rsID) and associated p-value can be found in the public ftp site. The full data set, including allele frequencies, is accessible through dbGaP Authorized Access.
]]>Participants were recruited from Amish populations in Lancaster County, Pennsylvania; Holmes County, Ohio; and Elkhart and LaGrange Counties, Indiana. Individuals and their siblings were recruited from families with at least one individual reported to have early or intermediate AMD.]]>
This is a new study.]]>