A Joint Linkage/Association Strategy to Interrogate AMD Genetic Susceptibility

The cohort consists of a collection of large multigenerational families where minimally 4 members have advanced age related macular degeneration (AMD). Retinal photographs were used to determine AMD phenotype and genomic DNA extracted from whole blood was used for sequencing. Gender, age at phenotyping, smoking status, self-declared race and ethnicity, and pedigree relationships were collected. Analyses conducted were designed to elucidate the role of known AMD variants and polymorphisms in heritability within the familial cohort and to discover rare variants that may have large genetic effect on AMD in one or more families.]]>
AMD phenotypes were derived from clinical photo assessments using modified Age-Related Eye Disease Study (AREDS) categories. Individual members of 20 families were chosen for whole genome sequencing, based on these criteria: Genetic family members (not adopted) or married in Cases demonstrating modified AREDS Category 4 (Advanced AMD in one or both eyes) Controls demonstrating modified AREDS Category 1 (No drusen or small, non-extensive drusen) and ≥60 years of age ]]>