Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.

ABSTRACT:

Purpose

To investigate how potentially functional genetic variants are coinherited on each of four common complement factor H (CFH) and CFH-related gene haplotypes and to measure expression of these genes in eye and liver tissues.

Methods

We sequenced the CFH region in four individuals (one homozygote for each of four common CFH region haplotypes) to identify all genetic variants. We studied associations between the haplotypes and AMD phenotypes in 2157 cases and 1150 controls. We examined RNA-seq profiles in macular and peripheral retina and retinal pigment epithelium/choroid/sclera (RCS) from eight eye donors and three liver samples.

Results

The haplotypic coinheritance of potentially functional variants (including missense variants, novel splice sites, and the CFHR

SUBMITTER: Hughes AE 

PROVIDER: S-EPMC4884056 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature