Bioinformatics Seminars

Bioinformatics Seminar

Time: 10:45am Tuesdays.
Level 7 Seminar Room 2, WEHI1

27 February 2018

The causative role of Serine and Glycine on Macular Telangiectasia - a Mendelian randomization approach

Roberto Bonelli
WEHI Bioinformatics

Macular telangiectasia type 2 (MacTel), is a rare and often underdiagnosed degenerative eye disease that may result in blindness. In 2017, we published the first five genetic loci involved in this disease discovered from genome-wide association study. Four out of the five loci were previously being connected with the glycine/serine metabolism pathway. In the same study, we identified glycine, serine and threonine to be the mostly differently abundant metabolites in MacTel. In this talk I will present different analyses that have been conducted based on these first results. In particular, I will focus on the causative analyses on the role of these metabolites in MacTel disease. Genetically Predicted Metabolites (GPMs) constructed from SNP data can be used to test causality between metabolites and diseases. By analysing SNP data on 476 MacTel cases and 1733 controls we constructed GPMs for 140 metabolites. Our results confirm that serine and glycine have a causative role in the development and progression of MacTel disease. These results will help elucidate the disease mechanism in future work leading to better prognosis and future treatments for MacTel patients.

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