Article
Multidisciplinary Sciences
Lina Cai, Tomas Gonzales, Eleanor Wheeler, Nicola D. Kerrison, Felix R. Day, Claudia Langenberg, John R. B. Perry, Soren Brage, Nicholas J. Wareham
Summary: Higher cardiorespiratory fitness is associated with lower risk of type 2 diabetes. Genetic determinants in cardiorespiratory fitness and candidate genes related to cardiac muscle development and muscle contractility were identified. Higher genetically predicted fitness is causally associated with lower risk of type 2 diabetes independent of adiposity.
NATURE COMMUNICATIONS
(2023)
Article
Cell Biology
Maria C. Costanzo, Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer, Clint Gilbert, Ryan P. Welch, Parul Kudtarkar, Quy Hoang, Andrew P. Boughton, Preeti Singh, Ying Sun, Marc Duby, Annie Moriondo, Trang Nguyen, Patrick Smadbeck, Benjamin R. Alexander, MacKenzie Brandes, Mary Carmichael, Peter Dornbos, Todd Green, Kenneth C. Huellas-Bruskiewicz, Yue Ji, Alexandria Kluge, Aoife C. McMahon, Josep M. Mercader, Oliver Ruebenacker, Sebanti Sengupta, Dylan Spalding, Daniel Taliun, Philip Smith, Melissa K. Thomas, Beena Akolkar, M. Julia Brosnan, Andriy Cherkas, Audrey Y. Chu, Eric B. Fauman, Caroline S. Fox, Tania Nayak Kamphaus, Melissa R. Miller, Lynette Nguyen, Afshin Parsa, Dermot F. Reilly, Hartmut Ruetten, David Wholley, Norann A. Zaghloul, Goncalo R. Abecasis, David Altshuler, Thomas M. Keane, Mark I. McCarthy, Kyle J. Gaulton, Jose C. Florez, Michael Boehnke, Noel P. Burtt, Jason Flannick
Summary: This study aims to make the Type 2 Diabetes Knowledge Portal (T2DKP) more accessible and useful to both new and existing users. It evaluates the comprehensiveness of T2DKP by comparing its datasets with other repositories, guides researchers unfamiliar with human genetic data on how to interpret and use the data through T2DKP, and discusses the importance of democratizing access to complex disease genetic results.
Article
Cardiac & Cardiovascular Systems
Mark Dennis, Sashie Howpage, Margaret McGill, Shashwati Dutta, Yen Koay, Lisa Nguyen-Lal, Sean Lal, Ted Wu, Martin Ugander, Alexandra Wang, Phillip A. Munoz, Jencia Wong, Maria I. Constantino, John F. O'Sullivan, Stephen M. Twigg, Rajesh Puranik
Summary: This study aims to identify biomarkers of cardiomyopathy in T2DM patients and explore the associations between functional status, metabolomic profile, and myocardial fibrosis. The results show that patients with well-controlled T2DM exhibit myocardial fibrosis, which is associated with reduced exercise tolerance and specific metabolites.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Rosanna Capparelli, Domenico Iannelli
Summary: Epigenetic marks the genome through DNA methylation, histone modification, or non-coding RNAs, guiding cells to respond to environmental cues and maintain stable gene expression. Studies have revealed associations between DNA methylation and conditions such as body mass index, obesity, and Type 2 Diabetes, highlighting the potential therapeutic value of epigenetic research.
Article
Cardiac & Cardiovascular Systems
Meng-Ting Shen, Yuan Li, Ying-Kun Guo, Li Jiang, Yue Gao, Rui Shi, Zhi-Gang Yang
Summary: Type 2 diabetes mellitus (T2DM) has an additive deleterious effect on left ventricular (LV) function in patients with non-ischemic dilated cardiomyopathy (NIDCM), and elevated blood glucose level is associated with reduced myocardial strain.
CARDIOVASCULAR DIABETOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Yi Zhang, Xue-Ming Li, Meng-Ting Shen, Shan Huang, Yuan Li, Zhi-Gang Yang
Summary: This study investigated the impact of functional mitral regurgitation (FMR) on left atrial (LA) compliance in type 2 diabetes mellitus (T2DM) patients. The results showed that FMR may aggravate LA and left ventricular (LV) dysfunction in T2DM patients, and the degree of regurgitation was found to be an independent determinant of LA strain.
CARDIOVASCULAR DIABETOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Kevin R. An, Charles de Mestral, Derrick Y. Tam, Feng Qiu, Maral Ouzounian, Thomas F. Lindsay, Harindra C. Wijeysundera, Jennifer C-Y Chung
Summary: This study found poor adherence to guideline-directed imaging surveillance following ATAAD repair, while long-term mortality and reinterventions rates remained high. Further research is needed to determine if guidelines should be modified.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Review
Medicine, General & Internal
Ehtasham Ahmad, Soo Lim, Roberta Lamptey, David R. Webb, Melanie J. Davies
Summary: Type 2 diabetes accounts for nearly 90% of global diabetes cases, with an increasing number of affected individuals, particularly among young people. Early detection and proactive management are crucial for preventing complications and reducing mortality. Technology and precision medicine offer potential improvements to treatment outcomes but face significant barriers.
Article
Computer Science, Interdisciplinary Applications
Wonjun Ko, Wonsik Jung, Eunjin Jeon, Heung-Il Suk
Summary: This paper proposes a novel deep learning framework that effectively handles neuroimaging and genetic data simultaneously, achieving state-of-the-art performance in Alzheimer's disease and mild cognitive impairment identification. Unlike existing methods, the framework learns the relationship between imaging phenotypes and genotypes in a nonlinear way without prior neuroscientific knowledge.
IEEE TRANSACTIONS ON MEDICAL IMAGING
(2022)
Article
Nutrition & Dietetics
Markku Laakso, Lilian Fernandes Silva
Summary: Diabetes, especially type 2 diabetes, is a global epidemic. Genetic and environment/lifestyle factors play a role in the risk of developing type 2 diabetes. Genetic studies of diabetes focus on different subgroups to provide personalized treatment options for patients.
Article
Cardiac & Cardiovascular Systems
Daniel Seung Kim, Anna L. Gloyn, Joshua W. Knowles
Summary: Type 2 diabetes is highly prevalent and contributes to cardiovascular disease. Despite significant progress in identifying genetic variation associated with T2D risk, the promise of precision medicine has not been fully realized. Recent studies have identified sub-groups of individuals with differential risk for intermediate phenotypes, which could aid in patient stratification and bridging the gap towards precision medicine for T2D.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Livia Noemi Kolb, Alaa Othman, Lucia Rohrer, Jan Kruetzfeldt, Arnold von Eckardstein
Summary: Biomarkers are important for early detection and stratification of diabetes and its complications. In this study, we used NMR spectrometry to analyze metabolic parameters in plasma samples of healthy volunteers and diabetic patients. Our results showed independent associations between diabetes and branched-chain amino acids, lactate, linoleic acid, and HDL diameter. Additionally, we found imbalances in the concentrations of free cholesterol in different lipoprotein subclasses in diabetic subjects compared to non-diabetic controls, which may reflect disturbances in cholesterol transfer processes.
Article
Nutrition & Dietetics
Erwin Garcia, Irina Shalaurova, Steven P. Matyus, Joelle C. Schutten, Stephan J. L. Bakker, Robin P. F. Dullaart, Margery A. Connelly
Summary: The study found that ionized magnesium levels measured by an optimized nuclear magnetic resonance method were associated with type 2 diabetes. In IRAS participants, ionized magnesium levels were significantly lower in prediabetes and type 2 diabetes patients, possibly influenced by gender, and predicted the development of future type 2 diabetes.
Article
Endocrinology & Metabolism
Johann M. E. Jende, Christoph Mooshage, Zoltan Kender, Lukas Schimpfle, Alexander Juerchott, Peter Nawroth, Sabine Heiland, Martin Bendszus, Stefan Kopf, Felix T. Kurz
Summary: This study suggests that hsTNT may serve as a potential marker for assessing nerve perfusion in patients with T2D.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Multidisciplinary Sciences
Shaopeng Yang, Zhuoting Zhu, Shida Chen, Yixiong Yuan, Mingguang He, Wei Wang
Summary: The reduced thickness of retinal pigment epithelium (RPE) is identified as a significant risk factor for future type 2 diabetes mellitus (T2DM) and its microvascular phenotypes. Analyses of circulating plasma metabolites reveal a wide range of metabolic fingerprints associated with the reduced RPE, which can improve predictability and clinical utility for stratifying future T2DM and related microvascular phenotypes, highlighting the promising role of retinas as a window to systemic health.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
John Muthii Muriuki, Alexander J. Mentzer, Ruth Mitchell, Emily L. Webb, Anthony O. Etyang, Catherine Kyobutungi, Alireza Morovat, Wandia Kimita, Francis M. Ndungu, Alex W. Macharia, Caroline J. Ngetsa, Johnstone Makale, Swaib A. Lule, Solomon K. Musani, Laura M. Raffield, Clare L. Cutland, Sodiomon B. Sirima, Amidou Diarra, Alfred B. Tiono, Michal Fried, Moses Gwamaka, Seth Adu-Afarwuah, James P. Wirth, Rita Wegmueller, Shabir A. Madhi, Robert W. Snow, Adrian V. S. Hill, Kirk A. Rockett, Manjinder S. Sandhu, Dominic P. Kwiatkowski, Andrew M. Prentice, Kendra A. Byrd, Alex Ndjebayi, Christine P. Stewart, Reina Engle-Stone, Tim J. Green, Crystal D. Karakochuk, Parminder S. Suchdev, Philip Bejon, Patrick E. Duffy, George Davey Smith, Alison M. Elliott, Thomas N. Williams, Sarah H. Atkinson
Summary: The study found a significant association between genetically predicted malaria risk and the prevalence of iron deficiency in African children, with a potential 49% reduction in ID if malaria episodes are halved as an intervention. Using HbAS as an instrumental variable in Mendelian randomization analyses, a 30% reduction in ID risk was observed in children living in malaria-endemic areas.
Article
Endocrinology & Metabolism
Harold H. Lee, Sakurako S. Okuzono, Eric S. Kim, Immaculata De Vivo, Laura M. Raffield, LaShaunta Glover, Mario Sims, Francine Grodstein, Laura D. Kubzansky
Summary: This study found that optimism was not associated with leukocyte telomere length among African American adults, and there was no evidence of effect modification by sex, age, body mass index, income, or chronic conditions. Future studies should explore alternate biological and behavioral mechanisms that may explain the association between optimism and health.
PSYCHONEUROENDOCRINOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Adrienne M. Stilp, Leslie S. Emery, Jai G. Broome, Erin J. Buth, Alyna T. Khan, Cecelia A. Laurie, Fei Fei Wang, Quenna Wong, Dongquan Chen, Catherine M. D'Augustine, Nancy L. Heard-Costa, Chancellor R. Hohensee, William Craig Johnson, Lucia D. Juarez, Jingmin Liu, Karen M. Mutalik, Laura M. Raffield, Kerri L. Wiggins, Paul S. de Vries, Tanika N. Kelly, Charles Kooperberg, Pradeep Natarajan, Gina M. Peloso, Patricia A. Peyser, Alex P. Reiner, Donna K. Arnett, Stella Aslibekyan, Kathleen C. Barnes, Lawrence F. Bielak, Joshua C. Bis, Brian E. Cade, Ming-Huei Chen, Adolfo Correa, L. Adrienne Cupples, Mariza de Andrade, Patrick T. Ellinor, Myriam Fornage, Nora Franceschini, Weiniu Gan, Santhi K. Ganesh, Jan Graffelman, Megan L. Grove, Xiuqing Guo, Nicola L. Hawley, Wan-Ling Hsu, Rebecca D. Jackson, Cashell E. Jaquish, Andrew D. Johnson, Sharon L. R. Kardia, Shannon Kelly, Jiwon Lee, Rasika A. Mathias, Stephen T. McGarvey, Braxton D. Mitchell, May E. Montasser, Alanna C. Morrison, Kari E. North, Seyed Mehdi Nouraie, Elizabeth C. Oelsner, Nathan Pankratz, Stephen S. Rich, Jerome Rotter, Jennifer A. Smith, Kent D. Taylor, Ramachandran S. Vasan, Daniel E. Weeks, Scott T. Weiss, Carla G. Wilson, Lisa R. Yanek, Bruce M. Psaty, Susan R. Heckbert, Cathy C. Laurie
Summary: Genotype-phenotype association studies often require harmonization of data from multiple sources, which can be challenging due to data heterogeneity. A centralized system for phenotype harmonization was developed and successfully used to harmonize 63 phenotypes in the TOPMed program. The harmonized data and associated documentation have been made available for controlled access by the scientific community.
AMERICAN JOURNAL OF EPIDEMIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Amarise Little, Yao Hu, Quan Sun, Deepti Jain, Jai Broome, Ming-Huei Chen, Florian Thibord, Caitlin McHugh, Praveen Surendran, Thomas W. Blackwell, Jennifer A. Brody, Arunoday Bhan, Nathalie Chami, Paul S. de Vries, Lynette Ekunwe, Nancy Heard-Costa, Brian D. Hobbs, Ani Manichaikul, Jee-Young Moon, Michael H. Preuss, Kathleen Ryan, Zhe Wang, Marsha Wheeler, Lisa R. Yanek, Goncalo R. Abecasis, Laura Almasy, Terri H. Beaty, Lewis C. Becker, John Blangero, Eric Boerwinkle, Adam S. Butterworth, Helene Choquet, Adolfo Correa, Joanne E. Curran, Nauder Faraday, Myriam Fornage, David C. Glahn, Lifang Hou, Eric Jorgenson, Charles Kooperberg, Joshua P. Lewis, Donald M. Lloyd-Jones, Ruth J. F. Loos, Yuan- Min, Braxton D. Mitchell, Alanna C. Morrison, Deborah A. Nickerson, Kari E. North, Jeffrey R. O'Connell, Nathan Pankratz, Bruce M. Psaty, Ramachandran S. Vasan, Stephen S. Rich, Jerome Rotter, Albert Smith, Nicholas L. Smith, Hua Tang, Russell P. Tracy, Matthew P. Conomos, Cecelia A. Laurie, Rasika A. Mathias, Yun Li, Paul L. Auer, Timothy Thornton, Alexander P. Reiner, Andrew D. Johnson, Laura M. Raffield
Summary: This study utilized WGS data from TOPMed project to analyze genetic variation contributing to platelet count and volume in a multi-ethnic sample. Secondary signals at MPL and PECAM1 were identified and replicated in African ancestry populations, along with rare variation in Mendelian platelet-related disorder genes influencing platelet traits.
HUMAN MOLECULAR GENETICS
(2022)
Article
Genetics & Heredity
Quan Sun, Misa Graff, Bryce Rowland, Jia Wen, Le Huang, Tyne W. Miller-Fleming, Jeffrey Haessler, Michael H. Preuss, Jin-Fang Chai, Moa P. Lee, Christy L. Avery, Ching-Yu Cheng, Nora Franceschini, Xueling Sim, Nancy J. Cox, Charles Kooperberg, Kari E. North, Yun Li, Laura M. Raffield
Summary: Despite the underrepresentation of non-European populations in human genetics studies, this study conducted genome-wide association studies on diverse populations and identified novel genetic signals in African and South Asian participants, emphasizing the importance of utilizing existing genetic data for potential new discoveries even in modest sample sizes.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Multidisciplinary Sciences
Mohammad Y. Anwar, Laura M. Raffield, Leslie A. Lange, Adolfo Correa, Kira C. Taylor
Summary: The study suggests that genetic factors influence adiposity patterns in African Americans, with genetic risk scores being associated with different adiposity measures. Increases in body fat percentage are strongly linked to subcutaneous adiposity rather than visceral adiposity.
Article
Oncology
Pamela R. Matias-Garcia, Cavin K. Ward-Caviness, Laura M. Raffield, Xu Gao, Yan Zhang, Rory Wilson, Xin Gao, Jana Nano, Andrew Bostom, Elena Colicino, Adolfo Correa, Brent Coull, Charles Eaton, Lifang Hou, Allan C. Just, Sonja Kunze, Leslie Lange, Ethan Lange, Xihong Lin, Simin Liu, Jamaji C. Nwanaji-Enwerem, Alex Reiner, Jincheng Shen, Ben Schottker, Pantel Vokonas, Yinan Zheng, Bessie Young, Joel Schwartz, Steve Horvath, Ake Lu, Eric A. Whitsel, Wolfgang Koenig, Jerzy Adamski, Juliane Winkelmann, Hermann Brenner, Andrea A. Baccarelli, Christian Gieger, Annette Peters, Nora Franceschini, Melanie Waldenberger
Summary: This study found significant associations between DNAmAge acceleration and DNAm mortality predictors with various kidney traits, including eGFR and CKD. The findings suggest that epigenetic biomarkers reflecting age-related mechanisms may play important roles in kidney disease prognosis and risk stratification. Further investigation into DNA methylation biomarkers for kidney disease is warranted based on these new findings.
CLINICAL EPIGENETICS
(2021)
Article
Endocrinology & Metabolism
Carolina G. Downie, Sofia F. Dimos, Stephanie A. Bien, Yao Hu, Burcu F. Darst, Linda M. Polfus, Yujie Wang, Genevieve L. Wojcik, Ran Tao, Laura M. Raffield, Nicole D. Armstrong, Hannah G. Polikowsky, Jennifer E. Below, Adolfo Correa, Marguerite R. Irvin, Laura J. F. Rasmussen-Torvik, Christopher S. Carlson, Lawrence S. Phillips, Simin Liu, James S. Pankow, Stephen S. Rich, Jerome Rotter, Steven Buyske, Tara C. Matise, Kari E. North, Christy L. Avery, Christopher A. Haiman, Ruth J. F. Loos, Charles Kooperberg, Mariaelisa Graff, Heather M. Highland
Summary: The study investigated the genetic basis of fasting glucose, fasting insulin, and HbA(1c) in participants from diverse backgrounds, identifying novel associations and highlighting the importance of conducting genetic studies in diverse populations.
Article
Clinical Neurology
Yao Hu, Jeffrey W. Haessler, Regina Manansala, Kerri L. Wiggins, Arden Moscati, Alexa Beiser, Nancy L. Heard-Costa, Chloe Sarnowski, Laura M. Raffield, Jaeyoon Chung, Sandro Marini, Christopher D. Anderson, Jonathan Rosand, Huichun Xu, Xiao Sun, Tanika N. Kelly, Quenna Wong, Leslie A. Lange, Jerome Rotter, Adolfo Correa, Ramachandran S. Vasan, Sudha Seshadri, Stephen S. Rich, Ron Do, Ruth J. F. Loos, William T. Longstreth, Joshua C. Bis, Bruce M. Psaty, David L. Tirschwell, Themistocles L. Assimes, Brian Silver, Simin Liu, Rebecca Jackson, Sylvia Wassertheil-Smoller, Braxton D. Mitchell, Myriam Fornage, Paul L. Auer, Alex P. Reiner, Charles Kooperberg
Summary: In this study, whole-genome sequencing data from ancestrally diverse populations were used to identify novel loci associated with stroke and its subtypes. The findings suggest the potential benefits of combining whole-genome sequencing data with populations of diverse genetic backgrounds, but also highlight the need to increase genome coverage and sample sizes.
Article
Clinical Neurology
Romit Bhattacharya, Seyedeh M. Zekavat, Jeffrey Haessler, Myriam Fornage, Laura Raffield, Md Mesbah Uddin, Alexander G. Bick, Abhishek Niroula, Bing Yu, Christopher Gibson, Gabriel Griffin, Alanna C. Morrison, Bruce M. Psaty, William T. Longstreth, Joshua C. Bis, Stephen S. Rich, Jerome Rotter, Russell P. Tracy, Adolfo Correa, Sudha Seshadri, Andrew Johnson, Jason M. Collins, Kathleen M. Hayden, Tracy E. Madsen, Christie M. Ballantyne, Siddhartha Jaiswal, Benjamin L. Ebert, Charles Kooperberg, JoAnn E. Manson, Eric A. Whitsel, Pradeep Natarajan, Alexander P. Reiner
Summary: Clonal hematopoiesis of indeterminate potential (CHIP) is associated with an increased risk of stroke, particularly with hemorrhagic and small vessel ischemic stroke.
Article
Genetics & Heredity
Jia Wen, Taylor M. Lagler, Quan Sun, Yuchen Yang, Jiawen Chen, Yuriko Harigaya, Vijay G. Sankaran, Ming Hu, Alexander P. Reiner, Laura M. Raffield, Yun Li
Summary: This study uses promoter capture Hi-C data to identify and characterize cell type-specific super-interactive promoters (SIPs) in blood lineage cell types. The study finds that the interaction regions of SIPs are more likely to overlap with cell type-specific ATAC-seq peaks and GWAS variants for relevant blood cell traits. Furthermore, SIP genes tend to express at a higher level in the corresponding cell type and SIP subnetworks help interpret GWAS variants. The study highlights the potential of using promoter-centric analyses to identify important genes and their regulatory regions.
Article
Biology
Daniel DiCorpo, Sheila M. Gaynor, Emily M. Russell, Kenneth E. Westerman, Laura M. Raffield, Timothy D. Majarian, Peitao Wu, Chloe Sarnowski, Heather M. Highland, Anne Jackson, Natalie R. Hasbani, Paul S. de Vries, Jennifer A. Brody, Bertha Hidalgo, Xiuqing Guo, James A. Perry, Jeffrey R. O'Connell, Samantha Lent, May E. Montasser, Brian E. Cade, Deepti Jain, Heming Wang, Ricardo D'Oliveira Albanus, Arushi Varshney, Lisa R. Yanek, Leslie Lange, Nicholette D. Palmer, Marcio Almeida, Juan M. Peralta, Stella Aslibekyan, Abigail S. Baldridge, Alain G. Bertoni, Lawrence F. Bielak, Chung-Shiuan Chen, Yii-Der Ida Chen, Won Jung Choi, Mark O. Goodarzi, James S. Floyd, Marguerite R. Irvin, Rita R. Kalyani, Tanika N. Kelly, Seonwook Lee, Ching-Ti Liu, Douglas Loesch, JoAnn E. Manson, Ryan L. Minster, Take Naseri, James S. Pankow, Laura J. Rasmussen-Torvik, Alexander P. Reiner, Muagututi'a Sefuiva Reupena, Elizabeth Selvin, Jennifer A. Smith, Daniel E. Weeks, Huichun Xu, Jie Yao, Wei Zhao, Stephen Parker, Alvaro Alonso, Donna K. Arnett, John Blangero, Eric Boerwinkle, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, Ravindranath Duggirala, Jiang He, Susan R. Heckbert, Sharon L. R. Kardia, Ryan W. Kim, Charles Kooperberg, Simin Liu, Rasika A. Mathias, Stephen T. McGarvey, Braxton D. Mitchell, Alanna C. Morrison, Patricia A. Peyser, Bruce M. Psaty, Susan Redline, Alan R. Shuldiner, Kent D. Taylor, Ramachandran S. Vasan, Karine A. Viaud-Martinez, Jose C. Florez, James G. Wilson, Robert Sladek, Stephen S. Rich, Jerome Rotter, Xihong Lin, Josee Dupuis, James B. Meigs, Jennifer Wessel, Alisa K. Manning
Summary: This study utilized high-coverage whole genome sequencing on over 23,000 non-diabetic individuals from diverse populations, identifying multiple genetic loci associated with fasting glucose and insulin levels. The findings provide a foundation for future sequencing-based investigations of glycemic traits.
COMMUNICATIONS BIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Peter Durda, Laura M. Raffield, Ethan M. Lange, Nels C. Olson, Nancy Swords Jenny, Mary Cushman, Pia Deichgraeber, Niels Grarup, Anna Jonsson, Torben Hansen, Josyf C. Mychaleckyj, Bruce M. Psaty, Alex P. Reiner, Russell P. Tracy, Leslie A. Lange
Summary: The study found an association between sCD163 and cardiovascular disease events and conducted a genome-wide association study to identify variants related to sCD163. Variants were identified in different ethnic groups.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Biology
Michael Elgart, Genevieve Lyons, Santiago Romero-Brufau, Nuzulul Kurniansyah, Jennifer A. Brody, Xiuqing Guo, Henry J. Lin, Laura Raffield, Yan Gao, Han Chen, Paul de Vries, Donald M. Lloyd-Jones, Leslie A. Lange, Gina M. Peloso, Myriam Fornage, Jerome Rotter, Stephen S. Rich, Alanna C. Morrison, Bruce M. Psaty, Daniel Levy, Susan Redline, Tamar Sofer
Summary: Incorporating a standard polygenic risk score (PRS) as a feature in a machine learning model increases the percentage variance explained for genetic traits by taking into account non-linearities and interaction effects. This approach proved effective in predicting nine complex phenotypes in a multi-ancestry population, outperforming standard linear PRS models.
COMMUNICATIONS BIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Xue Liu, Xianbang Sun, Yuankai Zhang, Wenqing Jiang, Meng Lai, Kerri L. Wiggins, Laura M. Raffield, Lawrence F. Bielak, Wei Zhao, Achilleas Pitsillides, Jeffrey Haessler, Yinan Zheng, Thomas W. Blackwell, Jie Yao, Xiuqing Guo, Yong Qian, Bharat Thyagarajan, Nathan Pankratz, Stephen S. Rich, Kent D. Taylor, Patricia A. Peyser, Susan R. Heckbert, Sudha Seshadri, Eric Boerwinkle, Megan L. Grove, Nicholas B. Larson, Jennifer A. Smith, Ramachandran S. Vasan, Annette L. Fitzpatrick, Myriam Fornage, Jun Ding, April P. Carson, Goncalo Abecasis, Josee Dupuis, Alexander Reiner, Charles Kooperberg, Lifang Hou, Bruce M. Psaty, James G. Wilson, Daniel Levy, Jerome I. Rotter, Joshua C. Bis, Claudia L. Satizabal, Dan E. Arking, Chunyu Liu
Summary: This study found that high low-density lipoprotein cholesterol may underlie the complex relationships between mtDNA CN and vascular atherosclerosis.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Geriatrics & Gerontology
Sarah N. Kraeutner, Cristina Rubino, Jennifer K. Ferris, Shie Rinat, Lauren Penko, Larissa Chiu, Brian Greeley, Christina B. Jones, Beverley C. Larssen, Lara A. Boyd
Summary: This study examined the age-related changes in brain function and baseline brain structure that support motor skill acquisition. The findings showed that older adults experienced decreases in functional connectivity during motor skill acquisition, while younger adults experienced increases. Additionally, regardless of age group, lower baseline microstructure in a frontoparietal tract was associated with slower motor skill acquisition.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Karen Nuytemans, Farid Rajabli, Melissa Jean-Francois, Jiji Thulaseedhara Kurup, Larry D. Adams, Takiyah D. Starks, Patrice L. Whitehead, Brian W. Kunkle, Allison Caban-Holt, Jonathan L. Haines, Michael L. Cuccaro, Jeffery M. Vance, Goldie S. Byrd, Gary W. Beecham, Christiane Reitz, Margaret A. Pericak-Vance
Summary: This study conducted genetic research on African American AD families and identified a significant linkage signal associated with AD, highlighting the importance of diverse population-level genetic data in understanding the genetic determinants of AD.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Kazuya Suwabe, Ryuta Kuwamizu, Kazuki Hyodo, Toru Yoshikawa, Takeshi Otsuki, Asako Zempo-Miyaki, Michael A. Yassa, Hideaki Soya
Summary: Physical exercise has a positive impact on hippocampal memory decline with aging. Recent studies have shown that even light exercise can improve memory and this improvement is mediated by the ascending arousal system. This study aimed to investigate the effects of light-intensity exercise on hippocampal memory function in healthy older adults and found that pupil dilation during exercise played a role in the memory improvement.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Ajay Sood, Ana Werneck Capuano, Robert Smith Wilson, Lisa Laverne Barnes, Alifiya Kapasi, David Alan Bennett, Zoe Arvanitakis
Summary: The objective of this study was to explore the impact of metformin on cognition and brain pathology. The results showed that metformin users had slower decline in global cognition, episodic memory, and semantic memory compared to non-users. However, the relationship between metformin use and certain brain pathology remains uncertain.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Brian N. Lee, Junwen Wang, Molly A. Hall, Dokyoon Kim, Shana D. Stites, Li Shen
Summary: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by memory and functional impairments. This study analyzed participants from the Alzheimer's Disease Neuroimaging Initiative and found differential associations between cerebral spinal fluid (CSF)/neuroimaging biomarkers and cognitive/functional outcomes, as well as variations between sexes. These findings suggest that sex differences may play a role in the development of AD.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Madeline R. Hale, Rebecca Langhough, Lianlian Du, Bruce P. Hermann, Carol A. Van Hulle, Margherita Carboni, Gwendlyn Kollmorgenj, Kristin E. Basche, Davide Bruno, Leah Sanson-Miles, Erin M. Jonaitis, Nathaniel A. Chin, Ozioma C. Okonkwo, Barbara B. Bendlin, Cynthia M. Carlsson, Henrik Zetterberg, Kaj Blennow, Tobey J. Betthauser, Sterling C. Johnson, Kimberly D. Mueller
Summary: This study demonstrates a relationship between cerebrospinal fluid biomarkers and the ability to recall proper names in the preclinical phase of Alzheimer's disease.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Thomas T. Austin, Christian L. Thomas, Ben Warren
Summary: This study investigated the effects of age on the robustness and resilience of auditory system using the desert locust. The researchers found that gene expression changes were mainly influenced by age rather than noise exposure. Both young and aged locusts were able to recover their auditory nerve function within 48 hours of noise exposure, but the recovery of transduction current magnitude was impaired in aged locusts. Key genes responsible for robustness to noise exposure in young locusts and potential candidates for compensatory mechanisms in auditory neurons of aged locusts were identified.
NEUROBIOLOGY OF AGING
(2024)
