Explanipedia

Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy Open

M M Lai, Kyeezu Kim, Yinan Zheng, Christina A. Castellani, Scott M. Ratliff , et al. · 2025

Expression quantitative trait methylation analysis elucidates gene regulatory effects of DNA methylation: the Framingham Heart Study Open

Amena Keshawarz, Helena Bui, Roby Joehanes, Jiantao Ma, Chunyu Liu , et al. · 2025

DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation Open

Melissa A. Richard, Tianxiao Huan, Symen Ligthart, Rahul Gondalia, Min A. Jhun , et al. · 2025

MON-607 Uptake of Novel Foot Mat Technology for Detection of Diabetic Foot Ulcers in High-Risk Patients Living with Diabetes Open

Kwang Ik Yang, Gary M. Rothenberg, Raul Lopez Fanas, Laura Rueda, Alyson K. Myers , et al. · 2025

Disclosure: K. Yang: None. G. Rothenberg: Podimetrics. R. Lopez Fanas: None. L. Rincon Rueda: None. A.K. Myers: Eli Lilly & Company, ROM Technologies. D. Levy: None. J. Daily: None. Globally, a lower extremity limb is amputated every 30 se…

Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals Open

Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Eric Van Buren, Sara Haidermota , et al. · 2025

ASSOCIATION OF CARDIOMETABOLIC DISEASE WITH SUBCLINICAL CARDIAC REMODELING IN MEN VS WOMEN IN THE FRAMINGHAM HEART STUDY Open

Rachel Goldberg, Yunong Zhao, Joanne M. Murabito, Ramachandran S. Vasan, Daniel Levy , et al. · 2025

French Adaptation and Validation of the International Outcome Inventory on Hearing Aids (IOI-HA) Questionnaire Open

Maria‐Pia Tuset, Mary Daval, Daniel Levy, Denis Ayache, Stéphane Gargula · 2025

Objective: Hearing rehabilitation using hearing aids keeps increasing in the general population. Patient-related outcome measures are essential to evaluate benefits. Although the IOI-HA is routinely used in France, its translated version f…

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging Open

Woei‐Yuh Saw, Kangjin Kim, Yichen Huang, Jeong H. Yun, Xiaolong Ma , et al. · 2025

Mosaic loss of Y chromosome (mLOY) in blood cells is an age-related somatic mutation, but its relationship with pulmonary health remains undercharacterized. Leveraging mLOY assessment in over 12,000 men, including 5,097 from the COPDGene S…

Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression Open

Luisa Foco, Marzia De Bortoli, Fabiola Del Greco M, Laura Sophie Frommelt, Chiara Volani , et al. · 2025

Association of DNA methylation age acceleration with digital clock drawing test performance: the Framingham Heart Study Open

Zexu Li, Huitong Ding, Mengyao Wang, Yi Li, Ting Fang Alvin Ang , et al. · 2025

Our findings suggest that advanced biological aging, particularly as captured by DunedinPACE and GrimAge components, is significantly associated with poorer cognitive performance measured by dCDT, especially in older adults, highlighting a…

Protein quantitative trait locus analysis in African American and non-Hispanic White individuals Open

Ying Cai, Mari Johnson, J. Haessler, Aaron J. Molstad, Shih‐Jen Hwang , et al. · 2025

Genetically-programmed Hypervesiculation of <i>Lactiplantibacillus plantarum</i> Increases Production of Bacterial Extracellular Vesicles with Therapeutic Efficacy in a Preclinical Inflammatory Bowel Disease Model Open

Nicholas H. Pirolli, Daniel Levy, Alyssa Schledwitz, Natalia Sampaio Moura, Talia Solomon , et al. · 2025

Inflammatory bowel diseases (IBD) affect over 6 million people globally and current treatments achieve only 10-20% rates of durable disease remission. Bacterial extracellular vesicles (BEVs) from probiotic lactic acid bacteria (LAB) are a …

Epigenome-wide DNA methylation association study of CHIP provides insight into perturbed gene regulation Open

Sara Kirmani, Tianxiao Huan, Joseph C. Van Amburg, Roby Joehanes, Md Mesbah Uddin , et al. · 2025

With age, hematopoietic stem cells can acquire somatic mutations in leukemogenic genes that confer a proliferative advantage in a phenomenon termed CHIP. How these mutations result in increased risk for numerous age-related diseases remain…

Epigenetic mechanisms underlying variation of IL-6, a well-established inflammation biomarker and risk factor for cardiovascular disease Open

Jessica I. Lundin, Ulrike Peters, Yao Hu, Farah Ammous, Emelia J. Benjamin , et al. · 2025

Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes Open

Alexander G. Bick, Joshua S. Weinstock, Satish K. Nandakumar, Charles P. Fulco, Erik L. Bao , et al. · 2025

Inherited causes of clonal haematopoiesis in 97,691 whole genomes Open

Alexander G. Bick, Joshua S. Weinstock, Satish K. Nandakumar, Charles P. Fulco, Erik L. Bao , et al. · 2025

Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations Open

Michael Elgart, Genevieve Lyons, Santiago Romero‐Brufau, Nuzulul Kurniansyah, Jennifer A. Brody , et al. · 2025

Variation in clinical presentation of hospitalized patients with diabetic foot ulcers who underwent lower leg amputation in the Bronx from 2016–2021 Open

Ava Tsapatsaris, Daniel Levy, Alyson K. Myers, Johanna P. Daily, Manasa Kanneganti · 2025

Summary Lower extremity amputation secondary to diabetic foot ulcers (DFU) is associated with a 50% mortality rate within 5 years. The aim of this case series is to understand the risk factors and management of DFU leading to above-knee or…

Genomic and molecular evidence that the lncRNA<i>DSP-AS1</i>modulates Desmoplakin expression Open

Luisa Foco, Marzia De Bortoli, Fabiola Del Greco M, Laura Sophie Frommelt, Chiara Volani , et al. · 2025

Cardiac desmosomes are specialized cell junctions responsible for cardiomyocytes mechanical coupling. Mutation in desmosomal genes cause autosomal dominant and recessive familial arrhythmogenic cardiomyopathy. Motivated by evidence that Me…

AI-enabled opportunistic measurement of liver steatosis in coronary artery calcium scans predicts cardiovascular events and all-cause mortality: an AI-CVD study within the Multi-Ethnic Study of Atherosclerosis (MESA) Open

Morteza Naghavi, Kyle Atlas, Anthony P. Reeves, Chenyu Zhang, Jakob Wasserthal , et al. · 2025

Introduction About one-third of adults in the USA have some grade of hepatic steatosis. Coronary artery calcium (CAC) scans contain more information than currently reported. We previously reported new artificial intelligence (AI) algorithm…

Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants Open

Kruthika Iyer, Shoa L. Clarke, Rodrigo Guarischi‐Sousa, Ketrin Gjoni, Adam S. Heath , et al. · 2025

Background Genome‐wide association studies have identified several hundred susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single nucleotide variant‐based genome‐wide association studies improving our u…

Reflection Knockoffs via Householder Reflection: Applications in Proteomics and Genetic Fine Mapping Open

Yongtao Guan, Daniel Levy · 2025

We present a novel knockoff construction method, and demonstrate its superior performance in two applications: identifying proteomic signatures of age and genetic fine mapping. Both applications involve datasets of highly correlated featur…

Beyond eQTLs: Insights into Transcriptomic Variation through Allele-Specific Expression Analysis Open

Tianxiao Huan, Amena Keshawarz, Peter Orchard, Yongtao Guan, Roby Joehanes , et al. · 2025

DNA Methylation Signatures of Cardiovascular Health Provide Insights into Diseases Open

M. A. Carbonneau, Yi Li, Yishu Qu, Yinan Zheng, Alexis C. Wood , et al. · 2024

Background The association of overall cardiovascular health (CVH) with changes in DNA methylation (DNAm) has not been well characterized. Methods We calculated the American Heart Association’s Life’s Essential 8 (LE8) score to reflect CVH …

Sex Differences in Protein Biomarkers and Measures of Fat Distribution Open

Mariana F. Ramirez, Abigail S. Pan, Juhi K. Parekh, Ndidi Owunna, Paul Courchesne , et al. · 2024

Background Sex differences in obesity and fat distribution may in part explain differences in cardiovascular risk in men versus women. We sought to examine sex differences in the associations of obesity and adiposity measures with cardiova…

Association of DNA methylation age acceleration with digital clock drawing test performance: the Framingham Heart Study Open

Zexu Li, Huitong Ding, Mengyao Wang, Yi Li, Ting Fang Alvin Ang , et al. · 2024

Background Cognitive function measured by digital clock drawing test (dCDT) has drawn attention for their precision, automation, and reproductivity. However, the relationship between digital cognitive metrics and biological aging is lackin…

Methylation patterns associated with C-reactive protein in racially and ethnically diverse populations Open

Jessica I. Lundin, Ulrike Peters, Yao Hu, Farah Ammous, Christy L. Avery , et al. · 2024

Systemic low-grade inflammation is a feature of chronic disease. C-reactive protein (CRP) is a common biomarker of inflammation and used as an indicator of disease risk; however, the role of inflammation in disease is not completely unders…

Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype Open

Heming Wang, Pavithra Nagarajan, Nuzulul Kurniansyah, Jiwon Lee, Sina A. Gharib , et al. · 2024

Obstructive sleep apnea (OSA) is a multifactorial sleep disorder characterized by a strong genetic basis. Excessive daytime sleepiness (EDS) is a symptom that is reported by a subset of OSA patients, persisting even after treatment with co…

Artificial intelligence applied to coronary artery calcium scans (AI-CAC) significantly improves cardiovascular events prediction Open

Morteza Naghavi, Anthony P. Reeves, K. Atlas, Chenyu Zhang, Thomas Atlas , et al. · 2024

Coronary artery calcium (CAC) scans contain valuable information beyond the Agatston Score which is currently reported for predicting coronary heart disease (CHD) only. We examined whether new artificial intelligence (AI) applied to CAC sc…

Association analysis between an epigenetic alcohol risk score and blood pressure Open

Helena Bui, Amena Keshawarz, Mengyao Wang, Mi Kyeong Lee, Scott M. Ratliff , et al. · 2024

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