Gharahkhani Puya

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity.

The IOP PRS was correlated positively with maximum IOP, disease severity, need for surgery, and number of affected family members.

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.

The MYOC p.Gln368Ter variant confers a very high-risk effect size for advanced glaucoma; the risk is lower in nonadvanced glaucoma and OHT.

Genome-Wide Meta-analysis Identifies Risk Loci and Improves Disease Prediction of Age-Related Macular Degeneration.

Our findings improve the knowledge of the genetic architecture of AMD and help achieve better accuracy in AMD prediction.

Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.

These findings support the use of multitrait modeling of corneal parameters in a relatively large data set to identify new keratoconus risk loci and enhance polygenic risk score models.

Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma.

Monogenic and high polygenic risk were each associated with a more than 2.5-fold increased odds of developing glaucoma and an equivalent mean age at glaucoma diagnosis, with high polygenic risk more than 15 times more…

Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes.

These analyses suggest that there is limited genetic correlation between diabetes- and glaucoma-related traits.

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets.

Collectively, testosterone metabolism pathway SNPs were consistently associated with the high-tension subtype of POAG in two datasets.

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma.

Using two complementary approaches we found no evidence to support a genetic overlap between myopia and POAG; our results suggest that the comorbidity of these diseases is not influenced by common variants.

Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.

One in 4 individuals with the MYOC p.Gln368Ter mutation demonstrated evidence of glaucoma, a substantially higher penetrance than previously estimated, with 69% of cases undetected.

A Polygenic Risk Score Predicts Intraocular Pressure Readings Outside Office Hours and Early Morning Spikes as Measured by Home Tonometry.

A validated IOP PRS was associated with higher early morning IOP and mean IOP outside office hours.

A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation.

The PRSs for open-angle glaucoma, IOP, and VCDR stratify risk of glaucoma development and disease severity among individuals with PEX.

A generalised computer vision model for improved glaucoma screening using fundus images.

This study demonstrated the high efficacy of our classification model in distinguishing between glaucomatous and healthy discs.

Is Genetic Risk for Sleep Apnea Causally Linked With Glaucoma Susceptibility?

We found little genetic evidence supporting a causal association between SA and glaucoma.

Predictive Power of Polygenic Risk Scores for Intraocular Pressure or Vertical Cup-Disc Ratio.

VCDR and IOP PRSs derived using a large recently published multitrait GWAS exhibited validity across independent cohorts.

Polygenic Risk Prediction for Normal-Tension Glaucoma.

Despite the limited sample size of current NTG GWASs, our findings suggest that NTG-specific PRSs hold promise for risk prediction.

Association of Polygenic Scores for Glaucoma With Measures of Retinal Ganglion Cell Integrity in Young and Older Adults.

Associations between PGS and optic disc measures were present from young adulthood, but the effect sizes were greater in older adults.

Exploring the Shared Genetic Architectures Between Primary Open-Angle Glaucoma and Visual Pathway Regions in the Brain.

Our findings suggest a genetic overlap between POAG and the volumes of visual pathway regions, including shared candidate causal genes.

A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome.

A multitrait PRS for open-angle glaucoma stratifies risk of glaucoma onset and disease severity among individuals with PDS.

Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma.

The p.Gln368Ter variant can be genotyped with high accuracy using array data, provided careful quality control measures are implemented. Incorporating p.Gln368Ter into glaucoma PRS improved risk stratification for carriers.

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.

We demonstrate that some clinically important rare variants can be reliably detected using arrays and imputation.