Endocrinal metabolic regulation on the skeletal system in post-menopausal women

2 days 20 hours ago
Osteoporosis is a common endocrinologic disorder characterized as a chronic bone loss condition. Sexual dimorphism is ubiquitous in the incidence of osteoporosis with post-menopausal women being acutely affected. Gonadal sex hormones including estrogen act as crucial regulators of bone mass; therefore, loss of such hormones leads to an imbalance in skeletal turnover leading to osteoporosis. Estrogen can influence both bone formation as well as resorption by reducing osteoblast activity and...
Santosh Thapa

Polygenic Risk Scores Associated with Tumor Immune Infiltration in Common Cancers

4 days 20 hours ago
It is largely unknown whether genetic susceptibility contributes to tumor immune infiltration in common cancers. We systematically investigated the association between polygenic risk scores (PRSs) and tumor immune infiltration in common cancers. First, we constructed a PRS for common cancers using the risk variants identified in previous genome-wide association studies. Then, we analyzed 139 immune traits predicted by previous studies by examining gene expression data in tumor tissues from The...
Jungyoon Choi

IMMerge: Merging imputation data at scale

1 week 1 day ago
SUMMARY: Genomic data is often processed in batches and analyzed together to save time. However, it is challenging to combine multiple large VCFs and properly handle imputation quality and missing variants due to limitations of available tools. To address these concerns, we developed IMMerge, a Python-based tool that takes advantage of multiprocessing to reduce running time. For the first time in a publicly available tool, imputation quality scores are correctly combined with Fisher's z...
Wanying Zhu

Interventions Incorporating Therapeutic Alliance to Improve Medication Adherence in Black Patients with Diabetes, Hypertension and Kidney Disease: A Systematic Review

1 week 2 days ago
BACKGROUND: Black Americans have a disproportionately increased risk of diabetes, hypertension, and kidney disease, and higher associated morbidity, mortality, and hospitalization rates than their White peers. Structural racism amplifies these disparities, and negatively impacts self-care including medication adherence, critical to chronic disease management. Systematic evidence of successful interventions to improve medication adherence in Black patients with diabetes, hypertension, and kidney...
Russom Desta

Integrating transcription factor occupancy with transcriptome-wide association analysis identifies susceptibility genes in human cancers

1 week 4 days ago
Transcriptome-wide association studies (TWAS) have successfully discovered many putative disease susceptibility genes. However, TWAS may suffer from inaccuracy of gene expression predictions due to inclusion of non-regulatory variants. By integrating prior knowledge of susceptible transcription factor occupied elements, we develop sTF-TWAS and demonstrate that it outperforms existing TWAS approaches in both simulation and real data analyses. Under the sTF-TWAS framework, we build genetic models...
Jingni He

Diabetic hyperglycemia promotes primary tumor progression through glycation-induced tumor extracellular matrix stiffening

1 week 5 days ago
Diabetes mellitus is a complex metabolic disorder that is associated with an increased risk of breast cancer. Despite this correlation, the interplay between tumor progression and diabetes, particularly with regard to stiffening of the extracellular matrix, is still mechanistically unclear. Here, we established a murine model where hyperglycemia was induced before breast tumor development. Using the murine model, in vitro systems, and patient samples, we show that hyperglycemia increases tumor...
Wenjun Wang

Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohort

1 week 6 days ago
The World Health Organization recently defined hypertension and type 2 diabetes (T2D) as modifiable comorbidities leading to dementia and Alzheimer's disease. In the United States (US), hypertension and T2D are health disparities, with higher prevalence seen for Black and Hispanic minority groups compared to the majority White population. We hypothesized that elevated prevalence of hypertension and T2D risk factors in Black and Hispanic groups may be associated with dementia disparities. We...
Shashwat Deepali Nagar

Comparison of test-negative and syndrome-negative controls in SARS-CoV-2 vaccine effectiveness evaluations for preventing COVID-19 hospitalizations in the United States

2 weeks 2 days ago
CONCLUSIONS: Despite demographic and clinical differences between control groups, the use of either control group produced similar VE estimates across age groups and immunosuppression status. These findings support the use of test-negative controls and increase confidence in COVID-19 VE estimates produced by test-negative design studies.
Caitlin Turbyfill

Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics

2 weeks 6 days ago
By combining data from 160,500 individuals with breast cancer and 226,196 controls of Asian and European ancestry, we conducted genome- and transcriptome-wide association studies of breast cancer. We identified 222 genetic risk loci and 137 genes that were associated with breast cancer risk at a p < 5.0 × 10^(-8) and a Bonferroni-corrected p < 4.6 × 10^(-6), respectively. Of them, 32 loci and 15 genes showed a significantly different association between ER-positive and ER-negative breast cancer...
Guochong Jia

Rare and common genetic determinants of metabolic individuality and their effects on human health

2 weeks 6 days ago
Garrod's concept of 'chemical individuality' has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolome using 913 metabolites assayed in 19,994 individuals and identified 2,599 variant-metabolite associations (P < 1.25 × 10^(-11)) within 330 genomic regions, with rare variants (minor allele frequency ≤...
Praveen Surendran
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