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• W2499240546 startingPage "R21" @default.
• W2499240546 abstract "Genetic and genomic studies, including genome-wide association studies (GWAS) have accelerated the discovery of genes contributing to glaucoma, the leading cause of irreversible blindness world-wide. Glaucoma can occur at all ages, with Mendelian inheritance typical for the rare early onset disease (before age 40) and complex inheritance evident in common adult-onset forms of disease. Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular events caused by MYOC, OPTN and TBK1 mutations. Diagnostic genetic tests using early-onset glaucoma genes are also proving useful for pre-symptomatic disease detection and genetic counseling. Recent GWAS completed for three types of common adult-onset glaucoma have identified novel loci for POAG (primary-open-angle glaucoma) (ABCA1, AFAP1, GMDS, PMM2, TGFBR3, FNDC3B, ARHGEF12, GAS7, FOXC1, ATXN2, TXNRD2); PACG (primary angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A). In total sixteen genomic regions have been associated with POAG (including the normal tension glaucoma (NTG) subgroup), 8 with PACG and 2 with XFS. These studies are defining important biological pathways and processes that contribute to disease pathogenesis." @default.
• W2499240546 created "2016-08-23" @default.
• W2499240546 creator A5010480125 @default.
• W2499240546 creator A5086641481 @default.
• W2499240546 date "2017-05-16" @default.
• W2499240546 modified "2023-10-17" @default.
• W2499240546 title "Genetics of glaucoma" @default.
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• W2499240546 doi "https://doi.org/10.1093/hmg/ddx184" @default.
• W2499240546 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6074793" @default.
• W2499240546 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28505344" @default.
• W2499240546 hasPublicationYear "2017" @default.
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