Article
Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size.
Journal of human genetics - 1 Jan 2018
Fang Kho Pik, Lea Rodney A, Benton Miles C, Eccles David, Haupt Larisa M, Hewitt Alex W, Sherwin Justin C, Mackey David A, Griffiths Lyn R
Abstract excerpt
Primary open-angle glaucoma (POAG) is influenced by both genetic and environmental factors. Despite significant progress in identifying genetic variants associated with POAG, there remains a substantial amount of unexplained heritability. Study design features that may enhance knowledge of the genetic architecture include focusing on multiple quantitative traits related to ocular disorders (i.e. endophenotypes),...
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