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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma
New pathways underlying POAG susceptibility are identified and new targets for preventative therapies are suggested, including TXNRD2 and ATXN2 expression in retinal ganglion cells and the optic nerve head.
Genome-wide analysis of multiethnic cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
A genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium finds four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene and shows that 3 of these loci for IOP were also associated with POAG.
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics
- H. Springelkamp, A. Iglesias, +80 authors S. MacGregor
- Biology, MedicineHuman molecular genetics
- 15 January 2017
Several novel genes influencing the major clinical risk predictors of POAG are identified and it is shown that genetic variation in CDKN1A is important in POAG risk.
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Using RT-PCR and immunolabeling, it is shown that three loci newly associated with development of POAG are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells.
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
A rare protective allele at LOXL1 is identified through deep resequencing of XFS cases and controls and a potential role for naturally occurring rare LO XL1 variants in disease biology is highlighted.
Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility
- Sumana R. Chintalapudi, D. Maria, +5 authors M. Jablonski
- MedicineNature Communications
- 24 November 2017
The authors identify CACNA2D1 as an IOP risk gene that can be therapeutically targeted by the drug pregabalin in animal models and demonstrate that the systems genetics approach represents an efficient method to identify genetic variation that can guide the selection of therapeutic targets.
Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States
The estrogen SNP pathway was associated with POAG among women, and gene-based analyses revealed that the catechol-O-methyltransferase gene showed strong associations with HTG and NPG, as well as two subtypes of POAG at diagnosis.
Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma
The butanoate metabolism pathway overall, and specifically the aspects of the pathway that contribute to GABA and acetyl-CoA metabolism, was the only pathway significantly associated with both POAG and NPG, and suggest new potential therapeutic targets.