Age related macular degeneration (ARMD) is the leading cause of blindness for people over 50. An informative overview about eye health, focusing on glaucoma and macular degeneration, is online here on the nonprofit BrightFocus Foundation website.
ARMD is a complex disease with associated mutations in many genes. A 2016 study analyzing 16,144 patients and 17,832 controls identified 52 independently associated common and rare variants distributed across 34 genes, and concluded that the hunt for additional genes will probably be fruitful but will require extremely large sample sizes.[PMID 26691988]
omim summarizes current research
Many different SNPs can trigger the disease [PMID 11673412], including:
- rs11200638, a SNP in the HTRA1 gene, claimed to have the strongest influence [PMID 17053108]
- rs1061170 and rs800292, two SNPs in the CFH gene that some have claimed account for up to 78% of the population attributable risk [PMID 16849663, PMID 18316707]
- rs2230199, a SNP in the complement component C3 gene 10.1038/ng2131
- SNPs in the ApoE gene also play a role [PMID 16453339]
- rs3775291 can reduce the risk of having dry ARMD
Macular Degeneration
- http://www.zeenews.com/znnew/articles.asp?rep=2&aid=337673&ssid=28&sid=ENV
- http://www.eurekalert.org/pub_releases/2006-08/hms-vi3082906.php
- [PMID 16940309]
- [PMID 16754848]
- [PMID 17053109] with rs#
- [PMID 17167412]
Hageman [PMID 15870199]
Klein [PMID 18682806]
Li [PMID 16936733]
Maller [PMID 16936732]
Tuo [PMID 16754848]
Chen [PMID 18048322]
Ng [PMID 18421087]
Francis [PMID 18682806]
Gold [PMID 16518403]
Maller [PMID 16936732]
Gold [PMID 16518403]
Maller [PMID 16936732]
Maller [PMID 16936732]
Francis [PMID 18682806]
Lin [PMID 19026638]
Tuo [PMID 16754848]
HTRA1
Francis [PMID 18682806]
Lin [PMID 19026638]