Jette Bork-Jensen

TL;DR: Combining 32 genome-wide association studies with high-density imputation provides a comprehensive view of the genetic contribution to type 2 diabetes in individuals of European ancestry with respect to locus discovery, causal-variant resolution, and mechanistic insight.

TL;DR: In this paper, the authors performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing for 12,940 individuals from five ancestry groups.

TL;DR: Large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes, but most fell within regions previously identified by genome-wide association studies.

TL;DR: It is found that beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD), and only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and TG-lowering alleles involved in hepatic production of TG-rich lipoproteins tracked with higher liver fat, higher risk for T2D, and lower risk for CAD.

TL;DR: The results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.