Loss of function variants in the Greenlandic population at Novo Nordisk Foundation Center for Basic Metabolic Research

Position: This is a project proposal for a student opportunity at the Novo Nordisk Foundation Center for Basic Metabolic Research (CBMR).

Background: Type 2 Diabetes (T2D), along with other chronic diseases, has witnessed an increase in prevalence over the recent years. Currently, the estimated global prevalence is 8.8% between the ages of 17-79, reflecting a population of 424.9 million people with diabetes worldwide. Driven by this, T2D has gained more attention over the years and is one of most well studied phenotypes in the field of genetics. The challenge within genetic epidemiology - specifically for complex (polygenic and multifactorial) disorders such as metabolic-related traits, is to discern the causal genetic variant(s) that affects a biological mechanism, which in turn underlies the etiology of the trait of interest: the ultimate goal is to find the genetic factors that determine health and disease. Whilst the recent paradigm in genetics has been to increase sample sizes in the attempt to detect stronger signals with increased statistical power, the contribution provided from studying smaller and well-phenotyped cohorts has been somewhat overshadowed. In this regard, the population of Greenland possesses unique properties that make it a valuable resource in the context of genetics due to its unique genetic history. Namely, as it has previously been described by our group, genetic variants that are rare in populations of European ancestry but remain relatively common in Greenland are potential causal genetic variants for many diseases that have thus far remained elusive in genetic studies.

The project: Our main focus is to study the Greenlandic population in search for potential loss-of-function (LoF) variants that may play a role in T2D and metabolic-related traits. LoF variants are defined as genetic variants that have a severe impact on the mRNA transcript and consequently disrupt the function of protein-coding genes. The goal is to map these variants along the genome, and explore the variants of interest considering differences in frequencies between the Greenlandic and European samples.

The student: Highly motivated, with background in bioinformatics, biology, mathematics, genetics or related. Basic programming skills are desirable.

Contact: Associate Professor Niels Grarup, Group Leader (niels.grarup@sund.ku.dk).

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