Publications by authors named "O Bocher"
Insights into the molecular underpinning of type 2 diabetes complications.
Hum Mol Genet
January 2025
Type 2 diabetes (T2D) complications pose a significant global health challenge. Omics technologies have been employed to investigate these complications and identify the biological pathways involved. In this review, we focus on four major T2D complications: diabetic kidney disease, diabetic retinopathy, diabetic neuropathy, and cardiovascular complications.
View Article and Find Full Text PDFCirculating metabolite levels have been associated with type 2 diabetes (T2D), but the extent to which T2D affects metabolite levels and their genetic regulation remains to be elucidated. In this study, we investigate the interplay between genetics, metabolomics, and T2D risk in the UK Biobank dataset using the Nightingale panel composed of 249 metabolites, 92% of which correspond to lipids (HDL, IDL, LDL, VLDL) and lipoproteins. By integrating these data with large-scale T2D GWAS from the DIAMANTE meta-analysis through Mendelian randomization analyses, we find 79 metabolites with a causal association to T2D, all spanning lipid-related classes except for Glucose and Tyrosine.
View Article and Find Full Text PDFArticle Synopsis
- The introduction of Next-Generation Sequencing has advanced rare disease diagnostics, yet many cases still lack a molecular diagnosis due to the complexity of these diseases.
- The new PSAP-genomic-regions method expands on the original PSAP approach by focusing on non-coding genomic regions, allowing for a more comprehensive evaluation of variants.
- Preliminary results demonstrate that PSAP-genomic-regions effectively prioritizes significant non-coding variants, offering a valuable tool for diagnosing unresolved rare diseases, as evidenced by its success in patient data.
Article Synopsis
- The study investigates the demographic history of France using genotype datasets from individuals in Northern France, revealing significant population structure and differentiation in regions like Brittany and the Loire basin.
- The research highlights a connection between the ancestry of local populations and genetic variations, particularly indicating a distinction in shared ancestry related to Neolithic and steppe populations.
- Findings suggest the necessity of studying local demographics to better comprehend the distribution of genetic variants and their role in the prevalence of diseases among populations in Brittany and neighboring areas.
Discerning the mechanisms driving type 2 diabetes (T2D) pathophysiology from genome-wide association studies (GWAS) remains a challenge. To this end, we integrated omics information from 16 multi-tissue and multi-ancestry expression, protein, and metabolite quantitative trait loci (QTL) studies and 46 multi-ancestry GWAS for T2D-related traits with the largest, most ancestrally diverse T2D GWAS to date. Of the 1,289 T2D GWAS index variants, 716 (56%) demonstrated strong evidence of colocalization with a molecular or T2D-related trait, implicating 657 -effector genes, 1,691 distal-effector genes, 731 metabolites, and 43 T2D-related traits.
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