Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

ABSTRACT:

Purpose

Genome-wide association (GWAS) and sequencing studies for AMD have highlighted the importance of coding variants at loci that encode components of the complement pathway. However, assessing the contribution of such alleles to AMD, especially when they are rare, remains coarse, in part because of the persistent challenge in establishing their functional relevance. Others and we have shown previously that rare alleles in complement factor I (CFI) can be tested functionally using a surrogate in vivo assay of retinal vascularization in zebrafish embryos. Here, we have implemented and scaled these tools to assess the overall contribution of rare alleles in CFI to AMD.

Methods

We performed targeted sequencing of CFI in 731 AMD patients, followed by replication in a second

SUBMITTER: Tan PL 

PROVIDER: S-EPMC6022411 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature