Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.

doi:10.1371/journal.pgen.1004372

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Article

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.

PLoS genetics - 1 Jan 2014

Carnes Megan Ulmer, Liu Yangfan P, Allingham R Rand, Whigham Benjamin T, Havens Shane, Garrett Melanie E, Qiao Chunyan, Katsanis Nicholas, Wiggs Janey L, Pasquale Louis R, Ashley-Koch Allison, Oh Edwin C, Hauser Michael A

Abstract excerpt

Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified a significant association between POAG and the SIX6 locus (rs10483727, odds ratio (OR) = 1.32, p = 3.87×10(-11)). SIX6 plays a role in ocular development and has been associated with the...

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PMID: 24875647
DOI: 10.1371/journal.pgen.1004372
PMCID: PMC4038608

Genes

SIX6

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