A New Unification Hypothesis of the Pathogenesis of Glaucomas Based on Clinical Studies on Disc Appearance in Relation to the Stage of Visual Field Loss in Different Types of Glaucoma

Gramer, E.; Gramer, Gwendolyn

doi:10.1007/978-3-642-60203-0_20

Cited by 5 publications

(2 citation statements)

References 45 publications

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“…3). 17 Morphologic alterations of the optic disc, which are more frequent in NTG, 56 suggest a possible genetic disposition toward less connective tissue of the lamina cribrosa in NTG.…”

Section: Vasospasm and Glaucomamentioning

confidence: 99%

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension

Gramer

Weber

Gramer

2015

Invest. Ophthalmol. Vis. Sci.

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“…3). 17 Morphologic alterations of the optic disc, which are more frequent in NTG, 56 suggest a possible genetic disposition toward less connective tissue of the lamina cribrosa in NTG.…”

Section: Vasospasm and Glaucomamentioning

confidence: 99%

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension

Gramer

Weber

Gramer

2015

Invest. Ophthalmol. Vis. Sci.

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“…4 Other risk factors are advanced age and positive family history, and difference in prevalence has been shown for POAG across ethnicities and gender. 5–7 Moreover, there is disparity in POAG clinical presentations and outcome across ancestries. 8,9…”

Section: Introductionmentioning

confidence: 99%

Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

Faro

Bhattacharya

Zhou

et al. 2021

Preprint

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Primary open-angle glaucoma (POAG) is a complex eye disease characterized by progressive loss of optic nerve function that, if untreated, ultimately leads to irreversible blindness. To date, the biological mechanisms causing POAG are still unclear. There is disparity in POAG prevalence, clinical presentations and outcomes across ancestries. Here, we aim to identify unique genetics that underlie risk to POAG and evaluate the potential connection with vascular mechanisms. We performed POAG meta-analysis across 15 biobanks that are part of the Global Biobank Meta-analysis Initiative, with two previously published multi-ancestry analyses for a total of 1,478,037 individuals from six ancestries (46,325 cases and 1,431,712 controls). A total of 109 genome-wide significantly associated loci (p<5e-8) were identified, 18 of which were novel. Three of these novel loci are ancestry-specific, two African-specific and the third specific to northern Europeans. We also identified five sex-specific novel loci, four of which are African-specific and one European-specific. To explore biological implications underlying these variant-trait associations, we performed gene enrichment analysis, gene prioritization analysis and transcriptome-wide association studies (TWAS) implicating genes related to vascular-related functions, blood vessels, angiogenesis, and cancer. A fifth of TWAS-prioritized genes with vascular-related and/or cell senescence/proliferation functional roles or have been implicated in vascular or neoplastic diseases are primary ciliary related genes. We further performed extensive statistical validation analysis of genes in the SIX6 and well-known CDKN2B-AS1 loci, previously implicated in POAG, cardiovascular diseases, and cancers across multiple ancestries. We found evidence of significant interaction between SIX6 rs33912345 and causal variants in chr9p21.3, with concomitant effect on expression of a primary cilia gene CDKN2A and CDKN2B at the CDKN2B-AS1 locus. Phenome-wide association analysis of POAG genetic risk burden across five biobanks and genetic correlation analysis also show the shared biology between POAG and vascular and neoplastic traits. In summary, our findings suggest that some POAG risk variants may be ancestry-specific, sex-specific, or both. Our findings further support the contribution of vascular and proliferation genes in POAG and suggest potential involvement of primary cilia in POAG pathogenesis.

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Risk Factors in Pigmentary Glaucoma

Gramer¹,

Thiele²,

Ritch³

2000

Glaucoma Update VI

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A New Unification Hypothesis of the Pathogenesis of Glaucomas Based on Clinical Studies on Disc Appearance in Relation to the Stage of Visual Field Loss in Different Types of Glaucoma

Cited by 5 publications

References 45 publications

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension

Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

Risk Factors in Pigmentary Glaucoma

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