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Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression
Roberto Bonelli, Brendan R. E. Ansell, Luca Lotta, Thomas Scerri, Traci E. Clemons, Irene Leung, Tunde Peto, Alan C. Bird, Ferenc B. Sallo, Claudia Langenberg, Melanie Bahlo
Mar 09, 2021
Abstract: Background: Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and...
Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.
Roberto Bonelli, Brendan RE Ansell, Luca Lotta, Thomas Scerri, Traci E Clemons, Irene Leung, MacTel Consortium, Tunde Peto, Alan C Bird, Ferenc B Sallo, Claudia Langenberg, Melanie Bahlo
Mar 26, 2021
BACKGROUND: Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and glycine/serine/threonine...
GWAS Mendelian randomisation Metabolomics Retinal disease Serine Biosynthetic Pathways Diabetes mellitus Type 2 Disease Progression Endophenotypes Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Metabolome Polymorphism Single Nucleotide Retinal Telangiectasis Retinal Vessels Serine