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Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. | LitMetric

AI Article Synopsis

  • Primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are major causes of blindness, and recent research has found that they share a genetic connection, particularly through the ABCA1 gene.
  • The study estimated heritability for POAG at about 42% and for AMD at 71%, with genetic correlations indicating some shared risk factors between the two conditions.
  • Additionally, the genetic correlation for POAG differs between genders, suggesting inherited factors may help explain differences in how often these diseases affect men and women.

Article 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 (h(2)g = 0.42 ± 0.09) and AMD (h(2)g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h(2)g 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886254PMC
http://dx.doi.org/10.1038/srep26885DOI Listing

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