35 Result(s)
within
Anneke I den Hollander
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Article
Open AccessGenome-wide characterization of circulating metabolic biomarkers
Genome-wide association analyses using high-throughput metabolomics platforms have led to novel insights into the biology of human metabolism1–7. This detailed knowledge of the genetic determinants of systemic me...
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Article
Author Correction: The power of genetic diversity in genome-wide association studies of lipids
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Chapter and Conference Paper
Integrating Computational Approaches to Predict the Effect of Genetic Variants on Protein Stability in Retinal Degenerative Disease
Protein function can be impacted by changes in protein structure stability, but determining which change has impact is complex. Stability can be affected by a large change in the tertiary (3D) structure of the...
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Article
Open AccessA saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sa...
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Article
The power of genetic diversity in genome-wide association studies of lipids
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treat...
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Article
Open AccessIncreased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration
Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic variants at the chromosome 1q31.3 encompassing the complement factor H (CFH, FH) and CFH related genes (CFHR1-5) are major determina...
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Article
Open AccessGenome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy
The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid dis...
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Article
Open AccessGenetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration
Several prediction models for progression of age-related macular degeneration (AMD) have been developed, but the added value of using genetic information in those models in addition to clinical characteristics...
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Article
Open AccessExome sequencing in patients with chronic central serous chorioretinopathy
Chronic central serous chorioretinopathy (cCSC) is a multifactorial eye disease characterized by subretinal fluid accumulation that leads to vision loss. Clinically, cCSC is associated with stress, hypercortis...
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Article
Open AccessWhole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes
Age-related macular degeneration (AMD) is a degenerative disorder of the central retina and the foremost cause of blindness. The retinal pigment epithelium (RPE) is a primary site of disease pathogenesis. The ...
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Article
Open AccessExploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration
Precision medicine aims to improve patient care by adjusting medication to each patient’s individual needs. Age-related macular degeneration (AMD) is a heterogeneous eye disease in which several pathways are i...
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Article
Open AccessVariants in the PRPF8 Gene are Associated with Glaucoma
Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they e...
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Article
Open AccessIdentification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family
Primary open angle glaucoma (POAG) is a major type of glaucoma characterized by progressive loss of retinal ganglion cells with associated visual field loss without an identifiable secondary cause. Genetic fac...
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Article
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Chiea Chuen Khor, Tin Aung, Francesca Pasutto, Janey Wiggs and colleagues report a global genome-wide association study of exfoliation syndrome and a fine-map** analysis of a previously identified disease-as...
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Article
Rare and low-frequency coding variants alter human adult height
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding va...
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Article
Open AccessGWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration
Pooled DNA based GWAS to determine genetic association of SNPs with visual acuity (VA) outcome in anti-vascular endothelial growth factor (anti-VEGF) treated neovascular age-related macular degeneration (nAMD)...
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Article
Open AccessA Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo
The complement system is the first line of defense against foreign intruders and deregulation of this system has been described in multiple diseases. In age-related macular degeneration (AMD), patients have hi...
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Article
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Chiea Chuen Khor, Tin Aung and colleagues report the results of a large genome-wide association study of primary angle closure glaucoma. They identify five new susceptibility loci and provide insights into dis...
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Article
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Iris Heid, Gonçalo Abecasis, Sudha Iyengar and colleagues report the results of a large genome-wide association meta-analysis of macular degeneration based on over 43,000 subjects. They identify 16 new risk lo...
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Article
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
Anneke den Hollander, Patsy Nishina and colleagues report heterozygous missense mutations in CTNNA1 in three families with butterfly-shaped pigment dystrophy. Ctnna1-mutant mice display a similar phenotype and sh...
