Anneke I. den Hollander
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View article: A genome-wide CRISPR screen identifies the TNRC18 gene locus as a regulator of inflammatory signaling
A genome-wide CRISPR screen identifies the TNRC18 gene locus as a regulator of inflammatory signaling Open
Interleukin-1β (IL-1β) is dysregulated in chronic inflammatory diseases, yet the genetic factors influencing IL-1β production remain largely unknown. Myeloid-derived cells are the primary producers of IL-1β, which prompted a genome-wide CR…
View article: Chondroitin sulfate and hyaluronan in the vitreous of patients with rhegmatogenous retinal detachment
Chondroitin sulfate and hyaluronan in the vitreous of patients with rhegmatogenous retinal detachment Open
The significant degree of non-sulfated CS domains and decreased HA concentrations in the vitreous of RRD patients could weaken structural organization of the vitreous. Reduced vitreous stability can cause pathological vitreoretinal tractio…
View article: Non-canonical roles of CFH in retinal pigment epithelial cells revealed by dysfunctional rare CFH variants
Non-canonical roles of CFH in retinal pigment epithelial cells revealed by dysfunctional rare CFH variants Open
Complement factor H (CFH) common genetic variants have been associated with age-related macular degeneration (AMD). While most previous in vitro RPE studies focused on the common p.His402Tyr CFH variant, we characterized rare CFH variants …
View article: Risk factors and management of primary giant retinal tears
Risk factors and management of primary giant retinal tears Open
Purpose To describe clinical characteristics and management in a large cohort of patients with retinal detachment due to a giant retinal tear (GRT). Methods We performed a retrospective cohort study with 222 eyes of 206 patients with a pri…
View article: Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration
Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration Open
We describe the largest WGS study in AMD to date. We confirmed previously identified associations and identified several novel associations that are worth exploring in further follow-up studies.
View article: Genetic and molecular biomarkers for geographic atrophy
Genetic and molecular biomarkers for geographic atrophy Open
Geographic atrophy (GA) is characterized by atrophy of the retina, retinal pigment epithelium and choriocapillaris, causing a gradual loss of vision over time. Treatment options to prevent initiation or progression of GA are limited; two r…
View article: A genome-wide CRISPR screen supported by human genetics identifies the<i>TNRC18</i>gene locus as a novel regulator of inflammatory signaling
A genome-wide CRISPR screen supported by human genetics identifies the<i>TNRC18</i>gene locus as a novel regulator of inflammatory signaling Open
Interleukin-1β (IL-1β) is dysregulated in many chronic inflammatory diseases, yet the genetic factors influencing IL-1β production and signaling remain largely unknown. Myeloid-derived cells are the primary producers of IL-1β, prompting a …
View article: Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration
Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration Open
Purpose Genetic variants in complement genes are associated with age-related macular degeneration (AMD). However, many rare variants have been identified in these genes, but have an unknown significance, and their impact on protein functio…
View article: Association of Risk Variants in the <i>CFH</i> Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis
Association of Risk Variants in the <i>CFH</i> Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis Open
Importance Idiopathic multifocal choroiditis (MFC) is poorly understood, thereby hindering optimal treatment and monitoring of patients. Objective To identify the genes and pathways associated with idiopathic MFC. Design, Setting, and Part…
View article: Systemic Metabolomics in a Framework of Genetics and Lifestyle in Age-Related Macular Degeneration
Systemic Metabolomics in a Framework of Genetics and Lifestyle in Age-Related Macular Degeneration Open
Insights into the pathogenesis of age-related macular degeneration (AMD), a leading cause of blindness, point towards a complex interplay of genetic and lifestyle factors triggering various systemic pathways. This study aimed to characteri…
View article: Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration
Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration Open
Importance Central serous chorioretinopathy (CSC) is a serous maculopathy of unknown etiology. Two of 3 previously reported CSC genetic risk loci are also associated with AMD. Improved understanding of CSC genetics may broaden our understa…
View article: Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways
Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways Open
Genome-wide association analyses using high-throughput metabolomics platforms have led to novel insights into the biology of human metabolism 1–7 . This detailed knowledge of the genetic determinants of systemic metabolism has been pivotal…
View article: Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases Open
Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age-related MD (AMD) expres…
View article: Common and rare variants in patients with early onset drusen maculopathy
Common and rare variants in patients with early onset drusen maculopathy Open
Early onset drusen maculopathy (EODM) can lead to advanced macular degeneration at a young age, affecting quality of life. However, the genetic causes of EODM are not well studied. We performed whole genome sequencing in 49 EODM patients. …
View article: Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene Open
Age-related macular degeneration (AMD) is a common eye disease among the elderly in the Western world. AMD is a multifactorial disease, with a strong association with genetic variation in the complement system. One of the AMD-associated va…
View article: Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases Open
Background Macular diseases (MDs) are a subgroup of retinal disorders characterized by central vision loss that represent a major cause of vision impairment. Despite the identification of numerous genes associated with inherited MD (iMD) a…
View article: Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE
Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE Open
Age-related macular degeneration (AMD) is a progressive disease of the macula characterized by atrophy of the retinal pigment epithelium (RPE) and photoreceptor degeneration, leading to severe vision loss at advanced stages in the elderly …
View article: Imaging diabetic retinal disease: clinical imaging requirements
Imaging diabetic retinal disease: clinical imaging requirements Open
Diabetic retinopathy (DR) is a sight‐threatening complication of diabetes mellitus (DM) and it contributes substantially to the burden of disease globally. During the last decades, the development of multiple imaging modalities to evaluate…
View article: Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome Open
Complement factor I (FI) is a central inhibitor of the complement system, and impaired FI function increases complement activation, contributing to diseases such as age-related macular degeneration (AMD) and atypical hemolytic uremic syndr…
View article: Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Analysis of hemopexin plasma levels in patients with age-related macular degeneration. Open
In this study, HPX levels were not associated with AMD or AMD-associated variants at the CFH locus. The finding of a previous pQTL study that variants at the CFH locus were associated with HPX levels was also not confirmed in this study.
View article: Genetic Risk in Families with Age-Related Macular Degeneration
Genetic Risk in Families with Age-Related Macular Degeneration Open
Genetic risk in families with AMD often is attributed to high GRSs based on common variants. However, in part of the families with a low or intermediate GRS, rare CFH and CFI variants contributed to disease development. We recommend comput…
View article: Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration Open
Age-related macular degeneration (AMD) is a major cause of vision loss among the elderly in the Western world. The complement system has been identified as one of the main AMD disease pathways. We performed a comprehensive expression analy…