Genetic Epidemiology of Age-Related Macular Degeneration in the Older Order Amish

Project: Research project

Description

DESCRIPTION (provided by applicant): Through genetic analysis of case-control cohorts there has been remarkable progress in identifying genes for Age-Related Macular Degeneration. Most of these identifications have been accomplished through the interrogation of common variants. We will initiate the identification of rare variants in a founder population, the Amish, and 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. Following the completion of these Aims, we will have phenotypically defined the early signs of Age-Related Macular Degeneration aiding our understanding of this disease. Moreover, we will relate these signs to genotypes to define the role of genetics in the progression of Age-Related Macular Degeneration and a new risk profile incorporating genotypic information.
StatusFinished
Effective start/end date2/1/131/31/19

Funding

  • National Institutes of Health: $1,301,865.00
  • National Institutes of Health: $1,241,869.00
  • National Institutes of Health: $1,156,027.00
  • National Institutes of Health: $1,226,140.00
  • National Institutes of Health: $1,299,272.00

Fingerprint

Amish
Molecular Epidemiology
Macular Degeneration
Endophenotypes
Genotype
Exome
Phenotype

ASJC

  • Medicine(all)