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Genetic variation influences form of advanced AMD development
Genetic susceptibility may determine the course of development for advanced age-related macular degeneration into choroidal neovascularization and geographic atrophy subtypes, according to a study.
The analysis included a sibling correlation study of 209 sibling pairs with advanced AMD as well as a genome-wide association study of 2,594 participants with advanced AMD subtypes and 4,134 healthy controls. Replication cohorts included 5,383 participants with advanced AMD and 15,240 healthy controls.
The sibling correlation study was performed to determine heritability of advanced AMD subtypes. In the genome-wide association study, single nucleotide polymorphisms were analyzed while controlling for genotyping platform and genetic ancestry.
In participants with CNV or geographic atrophy, the same subtype was more likely to develop in a sibling with advanced AMD (P = 4.2 × 10–5). When comparing participants with CNV vs. geographic atrophy, the researchers found a stronger association of the chromosome 10 locus with CNV compared with geographic atrophy.
“Although this report provides evidence for an increased likelihood for the same advanced AMD subtype among siblings, there can be substantial AMD phenotypic heterogeneity in family members with AMD, and it is not uncommon to have several AMD subphenotypes in one family,” the study authors said.