Jose C. Florez

1 month ago | nature.com | Magdalena Sevilla-Gonzalez |Elizabeth Litkowski |Hyunkyung Kim |Ching-Ti Liu |Chenglong Yu |John McNeil | +12 more

AbstractElevated fasting insulin levels (FI), indicative of altered insulin secretion and sensitivity, may precede type 2 diabetes (T2D) and cardiovascular disease onset. In this study, we group FI-associated genetic variants based on their genetic and phenotypic similarities and identify seven clusters with distinct mechanisms contributing to elevated FI levels.

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.

Apr 26, 2024 | genomemedicine.biomedcentral.com | Ravi Mandla |Philip Schroeder |Bianca Porneala |Jose C. Florez |James B. Meigs |Josep M. Mercader | +1 more

We sought to evaluate the longitudinal predictive performance of T2D PGS for incident T2D by creating simulated scenarios that varied in depth of clinical data availability at the time of each patient’s initial clinical encounter in the MGH PCP network. We extracted two decades of clinical data for 284,602 patients who had received primary care through the network from an EHR repository including outpatient, emergency department, and inpatient visits.

Jan 25, 2024 | nature.com | Soo Heon Kwak |Josep M. Mercader |Jose C. Florez |Jason Flannick

AbstractThe prevalence of youth-onset type 2 diabetes (T2D) and childhood obesity has been rising steadily1, producing a growing public health concern1 that disproportionately affects minority groups2. The genetic basis of youth-onset T2D and its relationship to other forms of diabetes are unclear3.