Sue Shaw-Hawkins

TL;DR: A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function, and these findings suggest potential novel therapeutic pathways for cardiovascular disease prevention.

TL;DR: A large, direct genome-wide study of association between CNVs and eight common human diseases concludes that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis ofcommon human diseases.

TL;DR: A meta-analysis of genome-wide association studies for estimated glomerular filtration rate suggests that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.

TL;DR: Evidence is provided that SLC2A9 splice variants act as high-capacity urate transporters and is one of the first functional characterisations of findings from genome-wide association scans.

TL;DR: Genome-wide association study with 395 912 single nucleotide polymorphisms (SNPs) identified an association between BP traits and a common variant rs11646213 (T/A) upstream of the CDH13 gene at 16q23, a regulator of vascular wall remodeling and angiogenesis and may improve the understanding of the pathogenesis of hypertension.