Publications by authors named "K L Mohlke"
Osteoarthritis (OA) poses a significant healthcare burden with limited treatment options. While genome-wide association studies (GWASs) have identified over 100 OA-associated loci, translating these findings into therapeutic targets remains challenging. To address this gap, we mapped gene expression, chromatin accessibility, and 3D chromatin structure in primary human articular chondrocytes in both resting and OA-mimicking conditions.
View Article and Find Full Text PDFComplete characterization of the genetic effects on gene expression is needed to elucidate tissue biology and the etiology of complex traits. In the present study, we analyzed 2,344 subcutaneous adipose tissue samples and identified 34,774 conditionally distinct expression quantitative trait locus (eQTL) signals at 18,476 genes. Over half of eQTL genes exhibited at least two eQTL signals.
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- - The study investigates how gene regulation at non-coding regions associated with brain traits can vary based on specific contexts, particularly focusing on the Wnt pathway in human neural progenitors from 82 donors.
- - Researchers found that certain genetic variants linked to brain structures and neuropsychiatric disorders were more prevalent in regions responsive to Wnt activation, indicating context-dependent regulatory effects.
- - Activation of the Wnt pathway significantly improved the detection of genetic influences on gene regulation and revealed new regulatory elements, suggesting that these genetic variants play critical roles in shaping adult brain traits and behaviors during neurodevelopment.
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.
Understanding the molecular mechanisms of complex traits is essential for developing targeted interventions. We analyzed liver expression quantitative-trait locus (eQTL) meta-analysis data on 1,183 participants to identify conditionally distinct signals. We found 9,013 eQTL signals for 6,564 genes; 23% of eGenes had two signals, and 6% had three or more signals.
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