Publications by authors named "Audrey Chu"

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.
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  • - Kidney failure significantly impacts health, prompting a large-scale study of 406,504 participants to uncover genetic factors affecting kidney function, identifying 430 key genetic loci.
  • - The research revealed that 56% of inherited differences in kidney function are linked to regulatory elements in kidney tubule epithelial cells, while 7% relate to podocyte cells, suggesting these are crucial for gene expression.
  • - Further analysis using advanced techniques like enhancer assays and CRISPRi identified specific genes (NDRG1, CCNB1, and STC1) regulated by these genetic loci, shedding light on their roles in kidney function.
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  • Kidney disease is largely influenced by genetics, yet the specific genes and mechanisms involved are still not fully understood; a recent GWAS identified 462 genetic loci associated with kidney function.
  • Researchers used single-cell ATAC-seq maps to explore chromatin accessibility in the kidney, finding that regulatory elements in kidney tubule epithelial cells accounted for the majority of genetic heritability related to kidney function.
  • The study further utilized CRISPR interference to demonstrate how inherited variations in regulatory elements impact gene expression in tubule epithelial cells, ultimately linking these differences to a predisposition for kidney disease in humans.
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Hypertension remains a leading cause of cardiovascular and kidney diseases. Failure to control blood pressure with ≥ 3 medications or control requiring ≥ 4 medications is classified as resistant hypertension (rHTN) and new therapies are needed to reduce the resulting increased risk of morbidity and mortality. Here, we report genetic evidence that relaxin family peptide receptor 2 (RXFP2) is associated with rHTN in men, but not in women.

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Article Synopsis
  • X-chromosomal genetic variants can provide important information about differences in human traits and diseases between sexes.
  • A large-scale study analyzed kidney-related traits in nearly 909,000 individuals, finding 23 genetic loci linked to uric acid levels and estimated glomerular filtration rate (eGFR), including four new genes that may play a role in kidney function.
  • The research also discovered five novel sex-specific interactions, with variations showing different effects in males and females, and highlighted genes that are responsive to androgens (male hormones), indicating a complex relationship between sex and kidney-related genetics.
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Associations between human genetic variation and clinical phenotypes have become a foundation of biomedical research. Most repositories of these data seek to be disease-agnostic and therefore lack disease-focused views. The Type 2 Diabetes Knowledge Portal (T2DKP) is a public resource of genetic datasets and genomic annotations dedicated to type 2 diabetes (T2D) and related traits.

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Article Synopsis
  • - The study analyzed data from 703,901 individuals and identified 99 genetic loci related to physical activity levels and sedentary behavior, particularly focusing on leisure time activities and screen use.
  • - Certain genes linked to sedentary behavior show heightened expression in skeletal muscle when influenced by resistance training, highlighting a connection between genetics and exercise.
  • - The findings suggest that lower screen time and increased physical activity can positively impact health, but these effects may be influenced by factors like body mass index (BMI).
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Article Synopsis
  • HIF-PHIs are being developed to treat anemia in CKD, but it's crucial to ensure they are safe for the heart.
  • Genetic variants can potentially predict the risk of adverse cardiovascular effects from these treatments.
  • A specific genetic variant related to EPO levels was identified and tested, showing no increased risk of coronary artery disease, heart attack, or stroke with higher EPO levels, indicating a safer profile for these therapies.
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Article Synopsis
  • Prolyl hydroxylase (PHD) inhibitors are being tested to treat anemia in chronic kidney disease, but studies on their long-term safety regarding cardiovascular disease (CVD) risks have shown mixed results.
  • Using Mendelian randomization, researchers analyzed data from over 60,000 coronary artery disease cases and found no significant increase in CVD risk related to long-term rises in hemoglobin levels due to PHD inhibition.
  • A phenome-wide association study indicated some associations with blood-related traits and kidney/liver biomarkers, but these were not clinically significant, suggesting PHD inhibitor-related hemoglobin increases likely do not elevate CVD risk.
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  • The study investigates the genetic factors contributing to the decline in estimated glomerular filtration rate (eGFR), a key indicator of kidney function, by analyzing data from 62 longitudinal studies involving over 343,000 participants.
  • Twelve significant genetic variants related to eGFR decline were identified, with most showing interaction effects based on age, which highlights how genetic influences on kidney function change as individuals get older.
  • The findings emphasize that individuals with certain genetic profiles face higher risks for kidney failure and acute kidney injury, providing valuable insights that could aid in drug development and strategies for managing kidney health.
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Article Synopsis
  • Reduced glomerular filtration rate (GFR) is a precursor to kidney failure, influenced by factors like genetics and diabetes (DM), but the interaction between these factors is not well understood.
  • A large-scale genome-wide association study (GWAS) analyzed eGFR across almost 1.5 million individuals, revealing distinct genetic loci that differ between those with and without diabetes.
  • The findings identified potential new targets for drug development aimed at protecting kidney function, highlighting that many drug interventions could be effective for both diabetic and non-diabetic populations.
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As nanocrystals (NCs) gain maturity, they become central building blocks for optoelectronics in devices such as solar cells and, more recently, infrared focal plane arrays. Now that the proof of concept of these devices has been established, their optimization requires a deeper understanding of their electronic and optical features to engineer their optoelectronic properties accurately. Though PbS NCs have been extensively investigated, the complex optical index of PbS NC thin films remains mostly unknown.

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Dietary intake is a major contributor to the global obesity epidemic and represents a complex behavioural phenotype that is partially affected by innate biological differences. Here, we present a multivariate genome-wide association analysis of overall variation in dietary intake to account for the correlation between dietary carbohydrate, fat and protein in 282,271 participants of European ancestry from the UK Biobank (n = 191,157) and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (n = 91,114), and identify 26 distinct genome-wide significant loci. Dietary intake signals map exclusively to specific brain regions and are enriched for genes expressed in specialized subtypes of GABAergic, dopaminergic and glutamatergic neurons.

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Nanocrystals (NCs) have gained considerable attention for their broadly tunable absorption from the UV to the THz range. Nevertheless, their optical features suffer from a lack of tunability once integrated into optoelectronic devices. Here, we show that bias tunable aspectral response is obtained by coupling a HgTe NC array with a plasmonic resonator.

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Article Synopsis
  • Scientists studied people's genetics to learn about traits related to blood sugar, which helps diagnose and monitor type 2 diabetes.
  • Most of the earlier studies only looked at people with European backgrounds, but this research included many more individuals from different backgrounds, finding 242 important genetic spots linked to blood sugar levels.
  • By studying a diverse group of people, they discovered new insights about how diabetes works in the body, helping to uncover different biological processes for each glycemic trait.
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HgTe nanocrystals (NCs) enable broadly tunable infrared absorption, now commonly used to design light sensors. This material tends to grow under multipodic shapes and does not present well-defined size distributions. Such point generates traps and reduces the particle packing, leading to a reduced mobility.

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Narrow band gap nanocrystals offer an interesting platform for alternative design of low-cost infrared sensors. It has been demonstrated that transport in HgTe nanocrystal arrays occurs between strongly-coupled islands of nanocrystals in which charges are partly delocalized. This, combined with the scaling of the noise with the active volume of the film, make case for device size reduction.

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Nanocrystals (NCs) are one of the few nanotechnologies to have attained mass market applications with their use as light sources for displays. This success relies on Cd- and In-based wide bandgap materials. NCs are likely to be employed in more applications as they provide a versatile platform for optoelectronics, specifically, infrared optoelectronics.

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Article Synopsis
  • - The study investigates the genetic factors contributing to the rapid decline in glomerular filtration rate (eGFRcrea), using data from 42 genome-wide association studies to analyze genetic loci linked to this decline.
  • - Two specific definitions of rapid eGFRcrea decline are examined, leading to the identification of seven independent genetic variants associated with this condition, including significant findings near three novel loci.
  • - The research suggests that individuals with a higher genetic risk for kidney function decline are more likely to experience acute kidney injury, indicating that these identified genetic loci could help in developing targeted therapies and identifying at-risk individuals.
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Mercury telluride (HgTe) nanocrystals are among the most versatile infrared (IR) materials with the absorption of lowest energy optical absorption which can be tuned from the visible to the terahertz range. Therefore, they have been extensively considered as near IR emitters and as absorbers for low-cost IR detectors. However, the electroluminescence of HgTe remains poorly investigated despite its ability to go toward longer wavelengths compared to traditional lead sulfide (PbS).

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Now that colloidal nanocrystals (NCs) have been integrated as green and red sources for liquid crystal displays, the next challenge for quantum dots is their use in electrically driven light-emitting diodes (LEDs). Among various colloidal NCs, nanoplatelets (NPLs) have appeared as promising candidates for light-emitting devices because their two-dimensional shape allows a narrow luminescence spectrum, directional emission, and high light extraction. To reach high quantum efficiency, it is critical to grow core/shell structures.

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To date, defect-tolerance electronic structure of lead halide perovskite nanocrystals is limited to an optical feature in the visible range. Here, we demonstrate that IR sensitization of formamidinium lead iodine (FAPI) nanocrystal array can be obtained by its doping with PbS nanocrystals. In this hybrid array, absorption comes from the PbS nanocrystals while transport is driven by the perovskite which reduces the dark current compared to pristine PbS.

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Nanocrystals are promising building blocks for the development of low-cost infrared optoelectronics. Gating a nanocrystal film in a phototransistor geometry is commonly proposed as a strategy to tune the signal-to-noise ratio by carefully controlling the carrier density within the semiconductor. However, the performance improvement has so far been quite marginal.

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Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy.

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