Publications by authors named "Pieter W M Bonnemaijer"
Purpose: Optical coherence tomography (OCT)-derived measurements of the optic nerve head (ONH) from different devices are not interchangeable. This poses challenges to patient follow-up and collaborative studies. Here, we present a device-agnostic method for the extraction of OCT biomarkers using artificial intelligence.
View Article and Find Full Text PDFImportance: Primary open-angle glaucoma (POAG) polygenic risk scores (PRSs) continue to be evaluated in primarily European-ancestry populations despite higher prevalence and worse outcomes in African-ancestry populations.
Objective: To evaluate how established POAG PRSs perform in African-ancestry samples from the Genetics in Glaucoma Patients of African Descent (GIGA), Genetics of Glaucoma in Individuals of African Descent (GGLAD), and Million Veteran Program (MVP) datasets and compare these with European-ancestry samples.
Design, Setting, And Participants: This was a multicenter, cross-sectional study of POAG cases and controls from Tanzania, South Africa, Nigeria, Ghana, and the US.
Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer.
View Article and Find Full Text PDFArticle Synopsis
- Primary open-angle glaucoma (POAG) is a heritable eye condition leading to blindness and the study involved a large genetic analysis of over 34,000 patients and nearly 350,000 controls from different ethnic backgrounds.
- Researchers identified 44 new genetic risk factors for POAG and confirmed 83 previously known ones, finding consistent impacts across various ancestries.
- The study also suggests that certain genes could play significant roles in the disease's development, indicating potential new drug treatments targeting these genetic risk factors.
Purpose: Primary open-angle glaucoma (POAG) has been reported to occur more frequently in Africans, and to follow a more severe course compared to Europeans. We aimed to describe characteristics of POAG presentation and treatment across three ethnic groups from Africa and one from Europe.
Methods: We ascertained 151 POAG patients from South African Coloured (SAC) and 94 South African Black (SAB) ethnicity from a university hospital in South Africa.
Article Synopsis
- Nuclear cataract is the most prevalent type of cataract related to aging, contributing significantly to blindness globally.
- Researchers conducted a large multi-ethnic study with over 19,000 participants to identify genetic factors linked to this condition.
- They confirmed the association of the CRYAA gene and discovered five new genetic loci related to age-related nuclear cataract, highlighting the connection between this condition and genes involved in eye development.
Article Synopsis
- - The study focuses on using genome-wide association studies to analyze related traits for primary open-angle glaucoma (POAG), particularly looking at optic nerve head (ONH) parameters like cup area and disc area.
- - It identifies new genetic variants linked to ONH traits that have significant implications for POAG, and these variants have been confirmed in independent Asian cohorts.
- - However, the validation of these findings is complicated due to the diversity within POAG groups, suggesting that multi-trait analysis is an effective method for discovering new genetic factors.
Article Synopsis
- Primary open-angle glaucoma is more common and severe in people of African descent compared to those of European or Asian ancestry, yet they are often overlooked in genetic research on this condition.
- The study conducts a genome-wide association study (GWAS) involving nearly 10,000 participants from various countries to identify genetic links to the disease.
- Results suggest significant genetic variants associated with primary open-angle glaucoma, highlighting the need for more focused research on affected populations for better understanding and treatment options.
Article Synopsis
- The study aimed to analyze the genetic connections between common myopia and primary open-angle glaucoma (POAG) using two different research groups.
- Researchers tested various polygenic risk scores (PRSs) derived from large genetic studies but found no significant associations between myopia PRS and POAG or its measured traits such as intraocular pressure.
- While no genetic overlap between myopia and POAG was established, a noteworthy connection was found between myopia and the size of the optic disc, affirming the effectiveness of the research methods used.
Article Synopsis
- Primary open angle glaucoma (POAG) has a significant genetic component and shows varying prevalence among ethnic groups, being notably more common in black African populations.
- A genome-wide association study involving Tanzanian, South African, and African American samples identified a confirmed association with the TXNRD2 gene and revealed a genetic risk score linked to 15 previously known POAG loci.
- Additionally, a novel genetic locus associated with POAG was identified (EXOC4), but efforts to validate this finding in West African populations faced challenges due to genetic diversity, indicating the need for larger studies to better understand POAG in these groups.
Importance: Retinal structures may serve as a biomarker for dementia, but longitudinal studies examining this link are lacking.
Objective: To investigate the association of inner retinal layer thickness with prevalent and incident dementia in a general population of Dutch adults.
Design, Setting, And Participants: From September 2007 to June 2012, participants from the prospective population-based Rotterdam Study who were 45 years and older and had gradable retinal optical coherence tomography images and at baseline were free from stroke, Parkinson disease, multiple sclerosis, glaucoma, macular degeneration, retinopathy, myopia, hyperopia, and optic disc pathology were included.
Increasing evidence shows that thinner retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL), assessed on optical coherence tomography (OCT), are reflecting global brain atrophy. Yet, little is known on the relation of these layers with specific brain regions. Using voxel-based analysis, we aimed to unravel specific brain regions associated with these retinal layers.
View Article and Find Full Text PDFPurpose: To investigate systemic and ocular determinants of peripapillary retinal nerve fiber layer thickness (pRNFLT) in the European population.
Design: Cross-sectional meta-analysis.
Participants: A total of 16 084 European adults from 8 cohort studies (mean age range, 56.
We investigated the association of specific retinal sublayer thicknesses on optical coherence tomography (OCT) with brain magnetic resonance imaging (MRI) markers. We included 2124 persons (mean age 67.0 years; 56% women) from the Rotterdam Study who had gradable retinal OCT images and brain MRI scans.
View Article and Find Full Text PDFPurpose: To unravel the relationship between African ancestry, central corneal thickness (CCT), and intraocular pressure (IOP) by estimating the genetic African ancestry (GAA) proportion in primary open-angle glaucoma (POAG) patients and controls from an admixed South African Colored (SAC) and a South African Black (SAB) population.
Methods: In this case-control study, 268 POAG patients and 137 controls were recruited from a university clinic in Cape Town, South Africa. All participants were genotyped on the Illumina HumanOmniExpress beadchip or HumanOmni2.
Article Synopsis
- The Haplotype Reference Consortium (HRC) recently launched an imputation panel that enhances the accuracy of genetic variant imputation, particularly for low-frequency variants.
- A study compared genotypes from an exome array with imputed data from both HRC and the 1000 Genomes Project (1000GP) and found HRC imputation significantly improved concordance, especially for rare variants.
- Additionally, a genome-wide association meta-analysis on glaucoma-related traits revealed that HRC imputation resulted in better P values and identified eight significant loci compared to seven from 1000GP, showcasing the potential for new gene discovery.