Evaluation of genetic risk scores (GRS) of complex diseases and phenotypes in patients with age-related macular degeneration

Status: Open

Thesis: Master or PhD

Field: Genetic Epidemiology

Advisor: Felix Grassmann and Prof. Bernhard Webe, Institute of Human Genetics

Courses preferred: Practical Bioinformatics II, statistische Bioinformatik

Objective: Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in individuals over 65 years of age. It is characterized by a progressive degeneration of the central retina conferred by genetic and environmental risk factors. The genetic risk of an individual to develop AMD has been quantified using a so called genetic risk score (GRS). Similar scores have been reported for other complex diseases, e.g. type II diabetes, cardiovascular disease or arteriosclerosis. In the proposed project, we want to investigate a potential overlap of the genetic risk (expressed as a genetic risk score) for AMD with the genetic risk of other complex diseases.

Data: Genome-wide genotypes and phenotypes of roughly 50,000 individuals

First-Steps: Understanding the basic principles of genetic epidemiology and performing literature searches to identify established genetic risk models based on genetic risk scores.

Questions: Are the genetic risk scores of other complex diseases, e.g. type II diabetes, significantly different between AMD cases and AMD-free controls.

Start reading:

Grassmann F et al. 2012 “Modelling the genetic risk in age-related macular degeneration”, PLoS One 2012;7(5):e37979; www.ncbi.nlm.nih.gov/pubmed/22666427

Ganna A et al. 2013 “Multilocus genetic risk scores for coronary heart disease prediction”, Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2267-72; http://www.ncbi.nlm.nih.gov/pubmed/23685553