Review
Cardiac & Cardiovascular Systems
Ida Juul Rasmussen, Ruth Frikke-Schmidt
Summary: Dementia is a major global challenge, but 40% of cases can be prevented. Prevention measures, such as reducing cardiovascular risk factors, are crucial for reducing the incidence of dementia. Genome-wide association studies can be useful for identifying novel pathogenic pathways and high-risk individuals.
EUROPEAN HEART JOURNAL
(2023)
Review
Medicine, Research & Experimental
Lindsay J. Young, Steve Antwi-Boasiako, Joel Ferrall, Loren E. Wold, Peter J. Mohler, Mona El Refaey
Summary: This article reviews the tissue and cellular pathways of atrial fibrillation, explores the role of genetic and environmental risk factors in atrial fibrillation susceptibility, and provides the latest information on the potential link between SARS-CoV-2 and human atrial fibrillation. Improved understanding of the mechanisms underlying atrial fibrillation holds promise in preventative care and early diagnostics, as well as introducing novel targeted therapies for attenuating atrial fibrillation progression and maintenance.
Article
Neurosciences
Fan Luo, Zimo Zhu, Yang Du, Lei Chen, Yong Cheng
Summary: Postpartum depression is a serious mood disorder that occurs after childbirth and can have lifelong consequences for women and their families. It is influenced by various risk factors, including environmental and genetic factors. Gene-environment interactions play a role in postpartum depression, as evidenced by studies on genes related to neurotransmitters, the HPA axis, and the kynurenine pathway. However, the conclusions regarding these risk factors, especially genetic factors, are not consistent, and further research is needed to understand the heritability and susceptibility of postpartum depression.
MOLECULAR NEUROBIOLOGY
(2023)
Review
Medicine, General & Internal
Matteo Nardin, Monica Verdoia, Nicola Laera, Davide Cao, Giuseppe De Luca
Summary: Cardiovascular disease remains the leading cause of death worldwide. Atherosclerosis continues to be the main pathological condition, both in stable and acute forms. Recent research and clinical attention have focused on acute coronary syndromes, leading to improved outcomes for patients. The identification of different evolution patterns of atherosclerotic plaque and coronary artery disease has suggested the need for personalized treatment approaches. Advances in understanding metabolic and lipid-related mediators have provided potential new targets for clinical management. Furthermore, genetics and non-coding RNAs offer promising areas of research for both pathophysiology and therapeutics.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Andrew T. Hale, Oluwatoyin Akinnusotu, Jing He, Janey Wang, Natalie Hibshman, Chevis N. Shannon, Robert P. Naftel
Summary: This study is the first genome-wide association study of spastic CP, identifying a SNP (rs78686911) associated with CP by decreasing expression of GRIK4. The findings suggest that genetic variation contributes to the risk of CP.
Review
Clinical Neurology
Mohamed Adil Shah Khoodoruth, Foysal Ahammad, Yasser Saeed Khan, Farhan Mohammad
Summary: This review comprehensively summarizes the current literature on the genetic factors linked with Tourette syndrome (TS) and obsessive-compulsive disorder (OCD), with a focus on OCD. The genetic framework of TS and OCD is complex and multifactorial, but several susceptibility loci and candidate genes have been identified that might play a crucial role in the pathogenesis of both disorders. In addition, post-infectious environmental factors have also been proposed to contribute to the development of TS-OCD, although the dynamics between genetic and environmental factors is not yet fully understood.
FRONTIERS IN NEUROLOGY
(2023)
Article
Public, Environmental & Occupational Health
Nan Zhang, Ziheng Jia, Tianshu Gu, Yi Zheng, Yunpeng Zhang, Wenhua Song, Ziliang Chen, Guangping Li, Gary Tse, Tong Liu
Summary: This study explores the causal relationships between genetically predicted risk factors and frailty, finding significant associations between genetic liability to certain diseases and lifestyle factors with increased risk of frailty. It also identifies a negative association between college education and high-density lipoprotein cholesterol level with frailty risk.
JOURNAL OF EPIDEMIOLOGY AND COMMUNITY HEALTH
(2023)
Review
Biochemistry & Molecular Biology
Wenwen Wei, Xin Wang, Yuanzhong Zhou, Xuejun Shang, Hongsong Yu
Summary: Pregnancy-induced hypertension (PIH) is a severe pregnancy complication that can lead to maternal mortality. Various genetic factors have been shown to play an important role in the occurrence and development of PIH. This review summarizes the genetic risk factors involved in the renin-angiotensin system, endothelin system, inflammatory factors, oxidative stress, and other functional networks that may contribute to the pathogenesis of PIH.
Article
Immunology
Xiaojing Zheng, Wujuan Zhong, Catherine M. O'Connell, Yutong Liu, Catherine L. Haggerty, William M. Geisler, Gloria E. Anyalechi, Robert D. Kirkcaldy, Harold C. Wiesenfeld, Sharon L. Hillier, Michael P. Steinkampf, Karen R. Hammond, Jason Fine, Yun Li, Toni Darville
Summary: The study identified 112 infertility genome-wide association study loci, with 31 associated with Chlamydia trachomatis ascension. These single-nucleotide polymorphisms altered chlamydial ascension by modulating expression of mediator genes.
JOURNAL OF INFECTIOUS DISEASES
(2021)
Article
Medicine, General & Internal
Vasileios Siokas, Athina-Maria Aloizou, Zisis Tsouris, Ioannis Liampas, Panagiotis Liakos, Daniela Calina, Anca Oana Docea, Aristidis Tsatsakis, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou, Efthimios Dardiotis
Summary: The study did not find a significant association between ADORA2A rs5760423 and CYP1A2 rs762551 and PD, suggesting that these polymorphisms may not be major risk factors for Parkinson's disease.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Health Care Sciences & Services
Przemyslaw Ustianowski, Damian Malinowski, Krzysztof Safranow, Violetta Dziedziejko, Maciej Tarnowski, Andrzej Pawlik
Summary: Gestational diabetes mellitus (GDM) is a common disorder in pregnant women, and this study found that the polymorphisms in the PPARG, TMEM163, UBE2E2, and WFS1 genes are not significant risk factors for GDM development in the Polish population.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Clinical Neurology
Marios K. Georgakis, Dipender Gill
Summary: The Mendelian randomization approach utilizing genetic variants has proven to be a valuable tool for studying stroke risk factors and identifying therapeutic targets. With advances in methodology and the increasing availability of genetic data, the potential for Mendelian randomization in this context is exponentially expanding.
Article
Cardiac & Cardiovascular Systems
Xinyu Wang, Si Cheng, Jun Lv, Canqing Yu, Yu Guo, Pei Pei, Ling Yang, Iona Y. Millwood, Robin Walters, Yiping Chen, Huaidong Du, Haiping Duan, Simon Gilbert, Daniel Avery, Junshi Chen, Yuanjie Pang, Zhengming Chen, Liming Li
Summary: This study found that liver biomarkers and metabolic associated fatty liver disease (MAFLD) are associated with cardiovascular disease (CVD). Limited evidence is available on the subtypes of CVD, especially in the Chinese population. The study analyzed the associations between liver biomarkers and CVD subtypes and found that genetic predisposition and lifestyle factors modify the associations between fatty liver disease and stroke.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Pediatrics
Naghmeh Kian, Noosha Samieefar, Nima Rezaei
Summary: ADHD is a multifactorial disease, with genetics and prenatal risk factors playing fundamental roles in its pathogenesis.
WORLD JOURNAL OF PEDIATRICS
(2022)
Review
Allergy
Padukudru Anand Mahesh, Saibal Moitra, Ulaganathan Mabalirajan, Mayank Garg, Sowmya Malamardi, Pudupakkam K. Vedanthan, Devasahayam Jesudas Christopher, Anurag Agrawal, Mamidipudi Thirumala Krishna
Summary: The prevalence of allergic diseases in India has been increasing in the past two decades, but recent studies have shown a decrease in allergic rhinitis, asthma, and atopic dermatitis in children. However, India still faces a significant burden of these diseases due to its large population and lack of trained allergy specialists and healthcare services. The reasons for variation in disease prevalence across different geographical locations in India are unclear, but factors such as aero-biology, weather, air pollution levels, cultural and religious factors, diet, socioeconomic status, and literacy may contribute to the differences. Factors that increase the risk or protect against the development of allergies and allergic diseases in India have not been well studied, but evidence suggests that genetic factors, along with cultural and environmental variables like diet, tobacco smoke exposure, air pollution, and urban residence, may play a role. This review provides an overview of the epidemiology, risk factors, and genetics of allergic diseases in India, while also highlighting gaps in knowledge and areas for future research.
CLINICAL AND EXPERIMENTAL ALLERGY
(2023)
Letter
Hematology
Melissa E. Day, Mark Rodeghier, Jennifer Driggers, Christopher J. Bean, Emmanuel J. Volanakis, Michael R. DeBaun
BRITISH JOURNAL OF HAEMATOLOGY
(2019)
Letter
Hematology
Amanda B. Payne, Connie H. Miller, Dorothy Ellingsen, Jennifer Driggers, Brian Boylan, Christopher J. Bean
Article
Developmental Biology
Mary M. Jenkins, Lynn M. Almli, Faith Pangilinan, Jessica X. Chong, Elizabeth E. Blue, Stuart K. Shapira, Janson White, Daniel McGoldrick, Joshua D. Smith, James C. Mullikin, Christopher J. Bean, Wendy N. Nembhard, Xiang-Yang Lou, Gary M. Shaw, Paul A. Romitti, Kim Keppler-Noreuil, Mahsa M. Yazdy, Denise M. Kay, Tonia C. Carter, Andrew F. Olshan, Kristin J. Moore, Nanette Nascone-Yoder, Richard H. Finnell, Philip J. Lupo, Marcia L. Feldkamp, Deborah A. Nickerson, Michael J. Bamshad, Lawrence C. Brody, Jennita Reefhuis
BIRTH DEFECTS RESEARCH
(2019)
Article
Cardiac & Cardiovascular Systems
Joshua P. Lewis, Joshua D. Backman, Jean-Luc Reny, Thomas O. Bergmeijer, Braxton D. Mitchell, Marylyn D. Ritchie, Jean-Pierre Dery, Ruth E. Pakyz, Li Gong, Kathleen Ryan, Eun-Young Kim, Daniel Aradi, Israel Fernandez-Cadenas, Ming Ta Michael Lee, Ryan M. Whaley, Joan Montaner, Gian Franco Gensini, John H. Cleator, Kiyuk Chang, Lene Holmvang, Willibald Hochholzer, Dan M. Roden, Stefan Winter, Russ B. Altman, Dimitrios Alexopoulos, Ho-Sook Kim, Meinrad Gawaz, Kevin P. Bliden, Marco Valgimigli, Rossella Marcucci, Gianluca Campo, Elke Schaeffeler, Nadia P. Dridi, Ming-Shien Wen, Jae Gook Shin, Pierre Fontana, Betti Giusti, Tobias Geisler, Michiaki Kubo, Dietmar Trenk, Jolanta M. Siller-Matula, Jurrien M. ten Berg, Paul A. Gurbel, Matthias Schwab, Teri E. Klein, Alan R. Shuldiner
EUROPEAN HEART JOURNAL-CARDIOVASCULAR PHARMACOTHERAPY
(2020)
Letter
Hematology
Amanda B. Payne, Dorothy Ellingsen, Jennifer Driggers, Christopher J. Bean, Connie H. Miller
Article
Hematology
Suvankar Majumdar, Christopher J. Bean, Christine De Staercke, James Bost, Robert Nickel, Thomas Coates, Andrew Campbell, Alexis Thompson
TRANSFUSION MEDICINE
(2020)
Article
Infectious Diseases
Nadia Boisen, Mark T. Osterlund, Katrine G. Joensen, Araceli E. Santiago, Inacio Mandomando, Alejandro Cravioto, Marie A. Chattaway, Laura A. Gonyar, Soren Overballe-Petersen, O. Colin Stine, David A. Rasko, Flemming Scheutz, James P. Nataro
PLOS NEGLECTED TROPICAL DISEASES
(2020)
Review
Hematology
Connie H. Miller, Christopher J. Bean
Summary: In cases of hemophilia, women and girls may have genetic causes leading to the condition, with 16% of mild hemophilia A patients being female.
Article
Hematology
Connie H. Miller, J. Michael Soucie, Vanessa R. Byams, Amanda B. Payne, Robert F. Sidonio, Tyler W. Buckner, Christopher J. Bean
Summary: Characterization of females with haemophilia receiving care at HTCs in the United States showed differences from males in severity, age, and infection history.
Article
Clinical Neurology
Simon Frerich, Rainer Malik, Marios K. Georgakis, Moritz F. Sinner, Steven J. Kittner, Braxton D. Mitchell, Martin Dichgans
Summary: This study used genetic data to assess the associations between cardiac traits and stroke risk, finding that cardiac traits have limited effects on stroke risk beyond known clinical risk factors.
Article
Genetics & Heredity
Zhenyao Ye, Chen Mo, Hongjie Ke, Qi Yan, Chixiang Chen, Peter Kochunov, L. Elliot Hong, Braxton D. Mitchell, Shuo Chen, Tianzhou Ma
Summary: This study utilized eQTL data to conduct transcriptome-wide association studies (TWAS) and identified genes associated with nicotine addiction and their regulatory mechanism in the brain. Three major gene clusters were identified, and downstream enrichment analysis revealed unique biological pathways associated with nicotine dependence.
Article
Public, Environmental & Occupational Health
Timileyin Y. Adediran, Stephanie Hitchcock, J. Kristie Johnson, O. Colin Stine, Surbhi Leekha, Kerri A. Thom, Yuanyuan Liang, David A. Rasko, Anthony D. Harris
Summary: After providing care to MRSA patients in the ICU, MRSA isolates are often found on the gloves and gowns of healthcare personnel (HCP), indicating that the patients are the primary source of MRSA transmission. This has important implications for hospitals considering ending the use of contact precautions for MRSA patients, as the MRSA isolates can potentially be spread to other patients or hospital settings through HCP vectors.
INFECTION CONTROL AND HOSPITAL EPIDEMIOLOGY
(2023)
Article
Genetics & Heredity
Huichun Xu, Kevin Nguyen, Brady J. Gaynor, Hua Ling, Wei Zhao, Patrick F. McArdle, Timothy D. O'Connor, O. Colin Stine, Kathleen A. Ryan, Megan Lynch, Jennifer A. Smith, Jessica D. Faul, Yao Hu, Jeffrey W. Haessler, Myriam Fornage, Charles Kooperberg, James A. Perry, Charles C. Hong, John W. Cole, Elizabeth Pugh, Kimberly Doheny, Sharon L. R. Kardia, David R. Weir, Steven J. Kittner, Braxton D. Mitchell
Summary: Recent genome wide association studies have identified 89 common genetic variants associated with ischemic stroke, primarily in non-coding regions. This study performed an exome array analysis and found 15 coding variants significantly associated with ischemic stroke, including common SNPs in the ABO gene. The associations were driven by African American samples and not replicated in other populations, emphasizing the need for diverse cohorts and genotyping technologies for rare variant studies.
Editorial Material
Cardiac & Cardiovascular Systems
Braxton D. Mitchell, Hilary B. Whitlatch
Letter
Hematology
Connie H. Miller, Brian Boylan, Amanda B. Payne, Jennifer Driggers, Christopher J. Bean
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)