Inês Cebola

Oct 22, 2024 | nature.com | Silvia Bonas-Guarch |Fanny Mollandin |Joanne Cole |Josephine H. Li |Jose C. Florez |Anna L Gloyn | +4 more

Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01947-9, published online 8 October 2024. In the version of the article initially published, Alicia Huerta-Chagoya, Philip Schroeder, Ravi Mandla and Jiang Li were not listed as equal contributors and Uyenlinh L. Mirshahi, Alisa K. Manning, Aaron Leong, Miriam Udler and Josep M. Mercader were not listed as having jointly supervised the work. These corrections have been made to the HTML and PDF versions of the article.

Oct 8, 2024 | nature.com | Silvia Bonas-Guarch |Joanne Cole |Josephine H. Li |Jose C. Florez |Anna L Gloyn |Inês Cebola | +4 more

AbstractType 2 diabetes (T2D) genome-wide association studies (GWASs) often overlook rare variants as a result of previous imputation panels’ limitations and scarce whole-genome sequencing (WGS) data. We used TOPMed imputation and WGS to conduct the largest T2D GWAS meta-analysis involving 51,256 cases of T2D and 370,487 controls, targeting variants with a minor allele frequency as low as 5 × 10−5.

Jan 6, 2024 | nature.com | Anna Ulrich |John Wharton |Inês Cebola |Marjo-Riitta Järvelin |Karl-Heinz Herzig |Luke Howard | +7 more

AbstractPulmonary arterial hypertension (PAH) is characterised by pulmonary vascular remodelling causing premature death from right heart failure. Established DNA variants influence PAH risk, but susceptibility from epigenetic changes is unknown. We addressed this through epigenome-wide association study (EWAS), testing 865,848 CpG sites for association with PAH in 429 individuals with PAH and 1226 controls.

May 30, 2023 | nature.com | Inês Cebola

In recent years, headlines have been made by reports that type 2 diabetes (T2D) could be classified into different subtypes1 that associate with different disease trajectories and distinct genetic risk profiles2,3. Analysis of these subtypes has highlighted that not all patients with T2D show a correlation between obesity and higher T2D risk.