Publications by authors named "Paula Cortes-Sanchez"

Article Synopsis
  • Traditional GWAS typically focus on additive allelic effects, which may overlook important recessive gene variants related to complex traits like type 2 diabetes.
  • This study conducted the largest GWAS meta-analysis using a recessive model, including over 33,000 diabetes cases and nearly 280,000 controls, identifying 51 associated loci—five of which were previously undetected.
  • Notably, one low-frequency variant significantly increased diabetes risk in homozygous carriers and was linked to changes in cholesterol levels and triglycerides, highlighting the importance of using recessive models in genetic research.
View Article and Find Full Text PDF

In the originally published version of this Article, the affiliation details for Santi González, Jian'an Luan and Claudia Langenberg were inadvertently omitted. Santi González should have been affiliated with 'Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034 Barcelona, Spain', and Jian'an Luan and Claudia Langenberg should have been affiliated with 'MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK'. Furthermore, the abstract contained an error in the SNP ID for the rare variant in chromosome Xq23, which was incorrectly given as rs146662057 and should have been rs146662075.

View Article and Find Full Text PDF

The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel associated regions, five driven by common variants (LYPLAL1, NEUROG3, CAMKK2, ABO, and GIP genes), one by a low-frequency (EHMT2), and one driven by a rare variant in chromosome Xq23, rs146662057, associated with a twofold increased risk for T2D in males. rs146662057 is located within an active enhancer associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and exhibits allelic specific activity in muscle cells.

View Article and Find Full Text PDF