Marit E. Jørgensen

This study identifies 251 genetic variants influencing plasma proteins in Greenlandic Inuit, revealing population-specific associations with cardiometabolic disease.

This study shows that SI gene variants affect sucrose intake and preference in mice and humans, linking SI dysfunction to reduced consumption and disliking of sucrose-rich foods.

The paper investigates the impact of the LDLR p.G137S variant on metabolic health and cardiovascular disease risk in Greenlanders, finding it increases FH and cardiovascular disease risk in up to 30% of the population.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

This study estimates narrow-sense heritability in admixed populations using simulations and proposes a PCA-based adjustment to improve accuracy.

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.

The paper reanalyzes T2D GWAS data to identify a rare X chromosome variant associated with increased T2D risk in males.

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.

The paper identifies targets of selection in the FADS region in Europeans, showing allele frequency changes linked to lipid-related phenotypes and dietary adaptations.