Abstract
Primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are leading causes of irreversible blindness. Several loci have been mapped using genome-wide association studies. Until very recently, there was no recognized overlap in the genetic contribution to AMD and POAG. At genome-wide significance level, only ABCA1 harbors associations to both diseases. Here, we investigated the genetic architecture of POAG and AMD using genome-wide array data. We estimated the heritability for POAG (h2g = 0.42 ± 0.09) and AMD (h2g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h2g estimates to 0.36 and 0.24, respectively. There was evidence for a positive genetic correlation between POAG and AMD (rg = 0.47 ± 0.25) which remained after removing known loci (rg = 0.64 ± 0.31). We also found that the genetic correlation between sexes for POAG was likely to be less than 1 (rg = 0.33 ± 0.24), suggesting that differences of prevalence among genders may be partly due to heritable factors.
Highlights
Until very recently, there was no recognized overlap in the genetic contribution to age-related macular degeneration (AMD) and Primary open-angle glaucoma (POAG)
We found that the genetic correlation between sexes for POAG was likely to be less than 1, suggesting that differences of prevalence among genders may be partly due to heritable factors
We investigated whether POAG and AMD share a common genetic background beyond their overlap with the ABCA1 locus using two methods
Summary
There was no recognized overlap in the genetic contribution to AMD and POAG. At genome-wide significance level, only ABCA1 harbors associations to both diseases. We investigated the genetic architecture of POAG and AMD using genome-wide array data. Removing known loci for POAG and AMD decreased the h2g estimates to 0.36 and 0.24, respectively. There was evidence for a positive genetic correlation between POAG and AMD (rg = 0.47 ± 0.25) which remained after removing known loci (rg = 0.64 ± 0.31). Quantification of the genetic contribution to disease can be estimated through the heritability (h2), defined as the proportion of total phenotypic variation due to additive genetic factors. This was performed using known family history (pedigree data). Yang et al showed one can estimate the realized genetic relationship between distantly related individuals from genotype data[12]
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