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

作者：Cuellar-Partida, Gabriel^*; Craig, Jamie E.; Burdon, Kathryn P.; Wang, Jie Jin; Vote, Brendan J.; Souzeau, Emmanuelle; McAllister, Ian L.; Isaacs, Timothy; Lake, Stewart; Mackey, David A.; Constable, Ian J.; Mitchell, Paul; Hewitt, Alex W.; MacGregor, Stuart^*

来源：Scientific Reports, 2016, 6(1): 26885.

DOI：10.1038/srep26885

• GENOME-WIDE ASSOCIATION
• COMMON VARIANTS
• DISEASES
• INFLAMMATION
• PREVALENCE
• GENDER
• ABCA1
• RISK
• LOCI
• AMD

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(g)(2) = 0.42 +/- 0.09) and AMD (h(g)(2) = 0.71 +/- 0.08). Removing known loci for POAG and AMD decreased the h(g)(2) estimates to 0.36 and 0.24, respectively. There was evidence for a positive genetic correlation between POAG and AMD (r(g) = 0.47 +/- 0.25) which remained after removing known loci (r(g) = 0.64 +/- 0.31). We also found that the genetic correlation between sexes for POAG was likely to be less than 1 (r(g) = 0.33 +/- 0.24), suggesting that differences of prevalence among genders may be partly due to heritable factors.

• 出版日期2016-5-31
• 单位河北医科大学