Article
Gastroenterology & Hepatology
Connor A. Emdin, Mary Haas, Veeral Ajmera, Tracey G. Simon, Julian Homburger, Cynthia Neben, Lan Jiang, Wei-Qi Wei, Qiping Feng, Alicia Zhou, Joshua Denny, Kathleen Corey, Rohit Loomba, Sekar Kathiresan, Amit Khera
Summary: This study identified 12 independent genetic variants, including 7 newly identified ones, that confer risk for cirrhosis. A polygenic score based on these variants can identify a subset of the population at substantially increased risk, particularly those susceptible to the hepatotoxic effects of excess alcohol consumption or obesity.
Article
Clinical Neurology
Manuela M. X. Tan, Michael A. Lawton, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Miriam Pollard, Leon Hubbard, Naveed Malek, Katherine A. Grosset, Sarah L. Marrinan, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, Nicholas W. Wood, Caroline H. Williams-Gray, John Hardy, Michael A. Nalls, Andrew B. Singleton, Nigel M. Williams, Yoav Ben-Shlomo, Michele T. M. Hu, Donald G. Grosset, Maryam Shoai, Huw R. Morris
Summary: The study found that genetic variants associated with Parkinson's disease risk are not linked to disease progression. The APOE epsilon 4 tagging variant was significantly associated with cognitive progression, while ATP8B2 gene showed a nominal association with motor progression. The new method shows promise in improving the measurement of symptom progression in PD.
MOVEMENT DISORDERS
(2021)
Article
Hematology
Paola Leon-Mimila, Hugo Villamil-Ramirez, Luis R. Macias-Kauffer, Leonor Jacobo-Albavera, Blanca E. Lopez-Contreras, Rosalinda Posadas-Sanchez, Carlos Posadas-Romero, Sandra Romero-Hidalgo, Sofia Moran-Ramos, Mayra Dominguez-Perez, Marisol Olivares-Arevalo, Priscilla Lopez-Montoya, Roberto Nieto-Guerra, Victor Acuna-Alonzo, Gaston Macin-Perez, Rodrigo Barquera-Lozano, Blanca E. Del-Rio-Navarro, Israel Gonzalez-Gonzalez, Francisco Campos-Perez, Francisco Gomez-Perez, Victor J. Valdes, Alicia Sampieri, Juan G. Reyes-Garcia, Miriam Del C. Carrasco-Portugal, Francisco J. Flores-Murrieta, Carlos A. Aguilar-Salinas, Gilberto Vargas-Alarcon, Diana Shih, Peter J. Meikle, Anna C. Calkin, Brian G. Drew, Luis Vaca, Aldons J. Lusis, Adriana Huertas-Vazquez, Teresa Villarreal-Molina, Samuel Canizales-Quinteros
Summary: The study identified a genetic variant in the SIDT2 gene associated with HDL-C levels and cardiovascular risk in Mexicans, with implications for cholesterol and lipoprotein metabolism. The SIDT2/Val636Ile variant was more common in Native American populations and linked to lower LDL-C and ApoB levels. Further investigation showed that the variant affects cholesterol transport function, highlighting SIDT2 as a new player in human lipid metabolism.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Review
Cell Biology
Carina Mauersberger, Heribert Schunkert, Hendrik B. Sager
Summary: While the importance of inflammation in atherosclerosis is recognized, the exact molecular processes remain unclear. Modern genetics, specifically genome-wide association studies, have revealed many loci related to inflammatory processes in coronary artery disease, but translating these findings into specific molecular mechanisms is still challenging.
Article
Cardiac & Cardiovascular Systems
Anni A. Antikainen, Niina Sandholm, David-Alexandre Tregouet, Romain Charmet, Amy Jayne McKnight, Tarunveer S. Ahluwalia, Anna Syreeni, Erkka Valo, Carol Forsblom, Daniel Gordin, Valma Harjutsalo, Samy Hadjadj, Alexander P. Maxwell, Peter Rossing, Per-Henrik Groop
Summary: This study aimed to identify genetic loci increasing coronary artery disease (CAD) susceptibility in individuals with type 1 diabetes (T1D). Two loci, CDKN2B-AS1 and DEFB127, were found to be significantly associated with CAD in T1D individuals. Additionally, the study explored the function of other genetic loci and found that general population risk variants were modestly but significantly associated with CAD in T1D.
CARDIOVASCULAR RESEARCH
(2021)
Review
Physiology
Roddy Walsh, Sean J. Jurgens, Jeanette Erdmann, Connie R. Bezzina
Summary: Genome-wide association studies (GWAS) have identified common genetic variants associated with traits and diseases, providing insights into genetic architecture, correlations across traits and diseases, and potential clinical applications. The utilization of GWAS in cardiovascular diseases and associated phenotypic traits has been facilitated by multicenter registry studies and large biobank data sets. However, challenges still exist in this field and need to be addressed.
PHYSIOLOGICAL REVIEWS
(2023)
Article
Urology & Nephrology
Cassianne Robinson-Cohen, Jefferson L. Triozzi, Bryce Rowan, Jing He, Hua C. Chen, Neil S. Zheng, Wei-Qi Wei, Otis D. Wilson, Jacklyn N. Hellwege, Philip S. Tsao, J. Michael Gaziano, Alexander Bick, Michael E. Matheny, Cecilia P. Chung, Loren Lipworth, Edward D. Siew, T. Alp Ikizler, Ran Tao, Adriana M. Hung
Summary: By conducting a meta-analysis of genome-wide association studies, three genetic loci associated with longitudinal eGFR change have been identified, shedding light on the molecular mechanisms of eGFR decline and potentially contributing to the development of new therapeutic approaches for progressive CKD.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Cassianne Robinson-Cohen, Jefferson L. Triozzi, Bryce Rowan, Jing He, Hua C. Chen, Neil S. Zheng, Wei-Qi Wei, Otis D. Wilson, Jacklyn N. Hellwege, Philip S. Tsao, J. Michael Gaziano, Alexander Bick, Michael E. Matheny, Cecilia P. Chung, Loren Lipworth, Edward D. Siew, T. Alp Ikizler, Ran Tao, Adriana M. Hung
Summary: The study identified three significant loci associated with longitudinal decline in eGFR, providing insights into the molecular mechanisms of eGFR decline and potential therapeutic approaches for progressive CKD.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Cell Biology
Ruben Fernandez-Santiago, Manu Sharma
Summary: After fifteen years of GWAS in Parkinson's disease, progress has been made towards understanding disease mechanisms and improving clinical applicability. Future strategies should focus on underrepresented populations and enhancing disease prediction. Advanced GWAS designs can define genetic risk profiles and facilitate neuroprotective clinical trials.
AGEING RESEARCH REVIEWS
(2022)
Article
Multidisciplinary Sciences
Mina-A Jhun, Michael Mendelson, Rory Wilson, Rahul Gondalia, Roby Joehanes, Elias Salfati, Xiaoping Zhao, Kim Valeska Emilie Braun, Anh Nguyet Do, Asa K. Hedman, Tao Zhang, Elena Carnero-Montoro, Jincheng Shen, Traci M. Bartz, Jennifer A. Brody, May E. Montasser, Jeff R. O'Connell, Chen Yao, Rui Xia, Eric Boerwinkle, Megan Grove, Weihua Guan, Pfeiffer Liliane, Paula Singmann, Martina Mueller-Nurasyid, Thomas Meitinger, Christian Gieger, Annette Peters, Wei Zhao, Erin B. Ware, Jennifer A. Smith, Klodian Dhana, Joyce van Meurs, Andre Uitterlinden, Mohammad Arfan Ikram, Mohsen Ghanbari, Deugi Zhi, Stefan Gustafsson, Lars Lind, Shengxu Li, Dianjianyi Sun, Tim D. Spector, Yii-der Ida Chen, Coleen Damcott, Alan R. Shuldiner, Devin M. Absher, Steve Horvath, Philip S. Tsao, Sharon Kardia, Bruce M. Psaty, Nona Sotoodehnia, Jordana T. Bell, Erik Ingelsson, Wei Chen, Abbas Dehghan, Donna K. Arnett, Melanie Waldenberger, Lifang Hou, Eric A. Whitsel, Andrea Baccarelli, Daniel Levy, Myriam Fornage, Marguerite R. Irvin, Themistocles L. Assimes
Summary: The study reveals strong and consistent associations between DNA methylation and blood lipid levels across multiple racial/ethnic groups, with specific and common CpG-lipid trait associations identified through a large-scale multi-ethnic epigenome-wide association study.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Abbas Saad Alatrany, Wasiq Khan, Abir Hussain, Dhiya Al-Jumeily
Summary: The increasing incidence of Alzheimer's disease (AD) poses socioeconomic challenges. In this study, a hybrid feature selection approach and neural network models are used to predict AD. The approach outperformed existing methods with 99% accuracy and f1-score, providing impactful outcomes for other chronic diseases.
Article
Urology & Nephrology
Xu-Jie Zhou, Tao Su, Jingyuan Xie, Qiong-Hong Xie, Li-Zhong Wang, Yong Hu, Gang Chen, Yan Jia, Jun-Wen Huang, Gui Li, Yang Liu, Xiao-Juan Yu, Swapan K. Nath, Lam C. Tsoi, Matthew T. Patrick, Celine C. Berthier, Gang Liu, Su-Xia Wang, Huji Xu, Nan Chen, Chuan-Ming Hao, Hong Zhang, Li Yang
Summary: This study identified two candidate genome regions associated with susceptibility to acute tubulointerstitial nephritis (ATIN), suggesting a genetically conferred risk of immune dysregulation is involved in the pathogenesis of ATIN.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Immunology
Rochi Saurabh, Cesaire J. K. Fouodo, Inke R. R. Konig, Hauke Busch, Inken Wohlers
Summary: This paper reviews current publicly available GWAS and PGS data on autoimmune diseases, summarizes the diseases investigated and the respective studies conducted, and provides an overview of the genetic data and autoimmune disease patients in the UK Biobank. The study finds that only the more prevalent autoimmune diseases are covered by both GWAS and PGS catalogs in the UK Biobank.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Obstetrics & Gynecology
Hamdi Mbarek, Scott D. Gordon, David L. Duffy, Nikki Hubers, Sally Mortlock, Jeffrey J. Beck, Jouke-Jan Hottenga, Rene Pool, Conor Dolan, Ky'Era Actkins, Zachary F. Gerring, Jenny Van Dongen, Erik A. Ehli, William G. Iacono, Matt Mcgue, Daniel Chasman, C. Scott Gallagher, Samantha L. P. Schilit, Cynthia C. Morton, Guillaume Pare, Gonneke Willemsen, David C. Whiteman, Catherine M. Olsen, Catherine Derom, Robert Vlietinck, Daniel Gudbjartsson, Lisa Cannon-Albright, Eva Krapohl, Robert Plomin, Patrik K. E. Magnusson, Nancy L. Pedersen, Pirro Hysi, Massimo Mangino, Timothy D. Spector, Teemu Palviainen, Yuri Milaneschi, Brenda W. Penninnx, Adrian Campos, Ken K. Ong, John R. B. Perry, Cornelis B. Lambalk, Jaakko Kaprio, Isleifur Olafsson, Karine Duroure, Celine Revenu, Miguel E. Renteria, Loic Yengo, Lea Davis, Eske M. Derks, Sarah E. Medland, Hreinn Stefansson, Kari Stefansson, Filippo Del Bene, Bruno Reversade, Grant W. Montgomery, Dorret Boomsma, Nicholas G. Martin
Summary: This study identified four new loci associated with female propensity for giving birth to spontaneous dizygotic twins. The novel loci, GNRH1 and FSHR, have established roles in female reproduction, while ZFPM1 and IPO8 were not previously linked to female fertility. The study also found significant genetic correlations with multiple aspects of female reproduction and body size, suggesting important roles in human evolution.
HUMAN REPRODUCTION
(2023)
Review
Cardiac & Cardiovascular Systems
Tejas P. Singh, Matt A. Field, Matthew J. Bown, Gregory T. Jones, Jonathan Golledge
Summary: This study systematically reviewed previous AAA GWAS and identified 33 SNPs associated with AAA diagnosis at genome-wide significance. However, the association between SNPs and AAA growth was not adequately examined. Previous GWAS have various design limitations, such as inconsistent case and control ascertainment and limited phenotyping of the AAAs.
Letter
Gastroenterology & Hepatology
Joshua Quan, Christopher Ma, Remo Panaccione, Lindsay Hracs, Nastaran Sharifi, Michelle Herauf, Ante Makovinovic, Stephanie Coward, Joseph W. Windsor, Lea Caplan, Richard J. M. Ingram, Jamil N. Kanji, Graham Tipples, Jessalyn K. Holodinsky, Charles N. Bernstein, Douglas J. Mahoney, Sasha Bernatsky, Eric Benchimol, Gilaad G. Kaplan
Article
Gastroenterology & Hepatology
Bradley G. Goodyear, Faranak Heidari, Richard J. M. Ingram, Filomeno Cortese, Nastaran Sharifi, Gilaad G. Kaplan, Christopher Ma, Remo Panaccione, Keith A. Sharkey, Mark G. Swain
Summary: Magnetic resonance imaging revealed structural and functional changes within the brains of inflammatory bowel disease patients, in regions known to be involved in processing brain signals associated with behavioral symptoms, anxiety, pain, stress, and cognitive deficits.
INFLAMMATORY BOWEL DISEASES
(2023)
Review
Gastroenterology & Hepatology
Julia J. Liu, Bincy P. Abraham, Paula Adamson, Edward L. Barnes, Kelly A. Brister, Oriana M. Damas, Sarah C. Glover, Kimberly Hooks, Ana Ingram, Gilaad G. Kaplan, Edward V. Loftus, Dermot P. B. McGovern, Melodie Narain-Blackwell, Florence-Damilola Odufalu, Sandra Quezada, Vonda Reeves, Bo Shen, Thaddeus S. Stappenbeck, Latonia Ward
Summary: This comprehensive review examines the epidemiology, clinical presentations, disease phenotypes, treatment outcomes, social determinants of health, and genetic and environmental factors in the pathogenesis of IBD in Black and Hispanic patients in the United States. To improve health equity for underserved minorities with IBD, researchers identified priority areas for further investigation.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Gastroenterology & Hepatology
Jocelyn Jeong, Thomas D. Walters, Hien Q. Huynh, Sally Lawrence, David R. Mack, Colette Deslandres, Anthony Otley, Wael El-Matary, Mary Sherlock, Anne M. Griffiths, Eytan Wine, Kevan Jacobson, Peter Church, Matthew W. Carroll, Eric Benchimol, Herbert Brill, Jeff Critch, Kevin Bax, Prevost Jantchou, Mohsin Rashid, Gilaad G. Kaplan, Cynthia H. Seow, Kerri Novak, Jennifer C. deBruyn
Summary: This study examines the ancestral and phenotypic variation of Canadian children newly diagnosed with inflammatory bowel disease. It identifies differences between children of European and non-European descent in phenotypes of inflammatory bowel disease, disease location and behavior, family history, and immigrant status.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Gastroenterology & Hepatology
Patrick Hamilton, Katherine Buhler, John K. MacDonald, Gilaad G. Kaplan, Cynthia H. Seow, Cathy Lu, Kerri L. Novak, Christopher N. Andrews, Siddharth Singh, Vipul Jairath, Remo Panaccione, Christopher Ma
Summary: This study aimed to estimate the placebo response rates in patients with microscopic colitis (MC) and identify factors associated with placebo response. The analysis showed that approximately one-quarter of patients in MC trials responded to placebo, but with significant heterogeneity.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Oncology
Lucy X. X. Ma, Yifan Wang, Osvaldo Espin-Garcia, Michael J. J. Allen, Gun Ho Jang, Amy Zhang, Anna Dodd, Stephanie Ramotar, Shawn Hutchinson, Mustapha Tehfe, Ravi Ramjeesingh, James Biagi, Julie M. M. Wilson, Faiyaz Notta, Sandra E. E. Fischer, George Zogopoulos, Steven Gallinger, Robert C. C. Grant, Rama Khokha, Nathan Chan, Barbara T. T. Gruenwald, Jennifer J. J. Knox, Grainne M. M. O'Kane
Summary: By comparing five systemic inflammatory scores in advanced pancreatic adenocarcinoma, researchers found that some of the scores have good prognostic value and can help select patients for clinical trials.
BRITISH JOURNAL OF CANCER
(2023)
Article
Gastroenterology & Hepatology
Haim Leibovitzh, Sun-Ho Lee, Juan Antonio Raygoza Garay, Osvaldo Espin-Garcia, Mingyue Xue, Anna Neustaeter, Ashleigh Goethel, Hien Q. Huynh, Anne M. Griffiths, Dan Turner, Karen L. Madsen, Paul Moayyedi, A. Hillary Steinhart, Mark S. Silverberg, Colette Deslandres, Alain Bitton, David R. Mack, Kevan Jacobson, Maria Cino, Guy Aumais, Charles N. Bernstein, Remo Panaccione, Batia Weiss, Jonas Halfvarson, Wei Xu, Williams Turpin, Kenneth Croitoru
Summary: This study identified serum proteomic signatures associated with future development of Crohn's disease (CD), reflecting potential early biological processes of immune and barrier dysfunction.
Article
Gastroenterology & Hepatology
Michael J. Buie, Stephanie Coward, Abdel-Aziz Shaheen, Jayna Holroyd-Leduc, Lindsay Hracs, Christopher Ma, Remo Panaccione, Eric Benchimol, Charles N. Bernstein, Alain Bitton, Anthony R. Otley, Jennifer L. Jones, Sanjay K. Murthy, M. Ellen Kuenzig, Juan-Nicolas Pena-Sanchez, Laura E. Targownik, Harminder Singh, Antonio Avina-Zubieta, Gilaad G. Kaplan
Summary: Recent advances in IBD management have led to a decrease in hospitalization rates for IBD-related and non-IBD-related causes. The study observed a decline in all-cause hospitalization rates as well.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Oncology
Kartik S. Jhaveri, Ali Babaei Jandaghi, Rajesh Bhayana, Khaled Y. Elbanna, Osvaldo Espin-Garcia, Sandra E. Fischer, Anand Ghanekar, Gonzalo Sapisochin
Summary: This study aimed to compare the diagnostic performance of EOB-MRI and CECT for HCC detection and LT eligibility assessment. The results showed that EOB-MRI had higher sensitivity but lower specificity compared to CECT in LR4/5 category lesions, and was inferior to CECT in the LR5 category under 2 cm. However, the accuracy for LT eligibility assessment based on Milan criteria was comparable between EOB-MRI and CECT.
Article
Oncology
Christopher McChesney, Melanie Lynn Powis, Osvaldo Espin-Garcia, Saidah Hack, Lyndon Morley, Monika K. Krzyzanowska
Summary: This study evaluated the experience of clinical staff with remote work during the COVID-19 pandemic at a large cancer center in Toronto, Canada. While most respondents wished to continue remote work, physicians and pharmacists were more likely to want to return on-site. Physicians reported higher levels of dissatisfaction and negative impact on efficiency from remote work, while nurses reported a need for additional resources and training. The most common barriers identified were the absence of fair processes for remote work allocation, poor integration of digital applications and connectivity, and poor role clarity.
JCO ONCOLOGY PRACTICE
(2023)
Article
Oncology
Arash Nabbi, Arnavaz Danesh, Osvaldo Espin-Garcia, Stephanie Pedersen, Johanna Wellum, Lingyan Helen Fu, Joseph N. Paulson, Birgit Geoerger, Lynley V. Marshall, Tanya Trippett, Gianluca Rossato, Trevor J. Pugh, Katherine E. Hutchinson
Summary: This study conducted an exploratory biomarker analysis of refractory tumors in pediatric patients before atezolizumab therapy. Elevated levels of CD8+T cells and PD-L1 were associated with improved progression-free survival, while a diverse baseline infiltrating T-cell receptor repertoire was prognostic. The differential gene expression analysis identified CALCA and CCDC183 as potential contributors to immune response, and elevated Iga2 expression was correlated with T-and B-cell infiltration. Consensus gene co-expression network analysis revealed core cellular pathways in antitumor immunity. These findings provide insights for future clinical trials and biomarker profiling.
Article
Cardiac & Cardiovascular Systems
Jarlath C. Bolger, Pablo Perez Castro, Anindita Marwah, Iran Tavakoli, Osvaldo Espin-Garcia, Gail E. Darling, Jonathan C. Yeung
Summary: This study assessed the impact of lymph node yield and lymph node ratio on survival in patients undergoing esophagectomy. It found that a low lymph node yield and a high lymph node ratio were associated with reduced overall survival. Therefore, a minimum nodal yield of 15 is recommended in esophagectomy.
ANNALS OF THORACIC SURGERY
(2023)
Article
Genetics & Heredity
Myriam Brossard, Andrew D. Paterson, Osvaldo Espin-Garcia, Radu Craiu, Shelley B. Bull
Summary: When analyzing the genetic association of single nucleotide polymorphisms (SNPs) with time-to-event traits, joint model analysis of time-to-event and longitudinal traits proves to be effective in identifying direct and/or indirect genetic associations. In this study, a joint model integrating a multivariate linear mixed model and a frailty Cox survival model was presented, allowing for the inclusion of trajectories of multiple longitudinal traits and subject-specific frailty. Through simulation and data analysis, it was demonstrated that joint modeling improved estimation bias and classification accuracy compared to traditional methods. The findings highlight the importance of joint analysis in understanding the complex architecture of traits.
Meeting Abstract
Gastroenterology & Hepatology
S. H. Lee, L. Qiu, P. A. Olivera, H. Leibovitzh, M. Xue, A. Neustaeter, H. Mbareche, W. Xu, O. Espin-Garcia, G. L. Aumais, H. Q. Huynh, R. Panaccione, A. H. Steinhart, M. Cino, D. Mack, J. K. Marshall, M. Ropeleski, A. Bitton, K. Jacobson, J. McGraft, B. Yerushalmi, M. Abreu, C. N. Bernstein, G. Radford-Smith, C. Lees, D. Turner, K. L. Madsen, D. S. Guttman, M. S. Silverberg, W. Turpin, K. Croitoru
JOURNAL OF CROHNS & COLITIS
(2023)
Meeting Abstract
Gastroenterology & Hepatology
H. Leibovitzh, A. Neustaeter, S. H. Lee, M. Xue, O. Espin-Garcia, P. A. Olivera, H. Mbareche, H. Q. Huynh, A. M. Griffiths, D. Turner, K. L. Madsen, M. S. Silverberg, A. H. Steinhart, D. R. Mack, K. Jacobson, P. Moayyedi, G. Aumais, C. N. Bernstein, J. K. Marshall, R. Panaccione, W. Xu, W. Turpin, K. Croitoru
JOURNAL OF CROHNS & COLITIS
(2023)