8 Result(s)

Article

Genome-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 metabolism^1–7. This detailed knowledge of the genetic determinants of systemic me...

Minna K. Karjalainen, Savita Karthikeyan, Clare Oliver-Williams, Eeva Sliz… in Nature (2024)

Article

Author Correction: The power of genetic diversity in genome-wide association studies of lipids

Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni… in Nature (2023)

Article

A 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...

Loïc Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell… in Nature (2022)

Article

Increased 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...

Valentina Cipriani, Laura Lorés-Motta, Fan He, Dina Fathalla… in Nature Communications (2020)

Article

Genetic 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...

Thomas J. Heesterbeek, Eiko K. de Jong, Ilhan E. Acar… in Scientific Reports (2019)

Article

Exome 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...

Rosa L. Schellevis, Myrte B. Breukink, Christian Gilissen… in Scientific Reports (2019)

Article

GWAS 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)...

Moeen Riaz, Laura Lorés-Motta, Andrea J. Richardson, Yi Lu… in Scientific Reports (2016)

Article

A 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...

Constantin C. Paun, Yara T. E. Lechanteur, Joannes M. M. Groenewoud… in Scientific Reports (2016)