Publications by authors named "L Southam"
Background: Type 2 diabetes (T2D) results from a complex interplay between genetic predisposition and lifestyle factors. Both genetic susceptibility and unhealthy lifestyle are known to be associated with elevated T2D risk. However, their combined effects on T2D risk are not well studied.
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- Osteoarthritis research faces challenges due to a lack of understanding of the disease's molecular processes, particularly in cartilage tissue.
- The study reveals significant changes in gene expression related to embryonic development, with differences observed between low- and high-grade osteoarthritis cartilage, indicating distinct cell activity patterns.
- By identifying gene co-expression modules and potential causal genetic variants, the research uncovers new molecular pathways that could serve as potential drug targets for treating osteoarthritis.
Article Synopsis
- Genome-wide association studies have found numerous genetic loci linked to glycemic traits, but connecting these loci to specific genes and biological pathways remains a challenge.
- Researchers conducted meta-analyses of exome-array studies across four glycemic traits, analyzing data from over 144,000 participants, which led to the identification of coding variant associations in more than 60 genes.
- The study revealed significant pathways related to insulin secretion, zinc transport, and fatty acid metabolism, enhancing understanding of glycemic regulation and making data available for further research.
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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- Osteoarthritis is a major public health issue, and this study aims to identify key genes linked to the disease using a new chromosome analysis technique (Hi-C).
- Researchers analyzed chondrocytes from patients with knee osteoarthritis to uncover long-range genetic interactions and variants that may regulate gene activity.
- The study found 345 genetic variants associated with osteoarthritis, identifying two new candidate effector genes and highlighting the role of a gene (PAPPA) related to the repair of damaged cartilage.