Article
Clinical Neurology
Jing-Yi Liu, Ming Yao, Yi Dai, Fei Han, Fei-Fei Zhai, Ding-Ding Zhang, Li-Xin Zhou, Jun Ni, Shu-Yang Zhang, Li-Ying Cui, Yi-Cheng Zhu
Summary: A study in a Chinese community-based cohort found a high frequency of rare NOTCH3 variants, with carriers of EGFr-involved variants potentially predisposed to age-related cerebral small vessel disease. These carriers of rare variants also showed higher volume of white matter hyperintensities and heavier burden of cerebral small vessel disease.
Article
Biotechnology & Applied Microbiology
Karen Y. He, Tanika N. Kelly, Heming Wang, Jingjing Liang, Luke Zhu, Brian E. Cade, Themistocles L. Assimes, Lewis C. Becker, Amber L. Beitelshees, Lawrence F. Bielak, Adam P. Bress, Jennifer A. Brody, Yen-Pei Christy Chang, Yi-Cheng Chang, Paul S. de Vries, Ravindranath Duggirala, Ervin R. Fox, Nora Franceschini, Anna L. Furniss, Yan Gao, Xiuqing Guo, Jeffrey Haessler, Yi-Jen Hung, Shih-Jen Hwang, Marguerite Ryan Irvin, Rita R. Kalyani, Ching-Ti Liu, Chunyu Liu, Lisa Warsinger Martin, May E. Montasser, Paul M. Muntner, Stanford Mwasongwe, Take Naseri, Walter Palmas, Muagututi'a Sefuiva Reupena, Kenneth M. Rice, Wayne H-H Sheu, Daichi Shimbo, Jennifer A. Smith, Beverly M. Snively, Lisa R. Yanek, Wei Zhao, John Blangero, Eric Boerwinkle, Yii-Der Ida Chen, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, Myriam Fornage, Jiang He, Lifang Hou, Robert C. Kaplan, Sharon L. R. Kardia, Eimear E. Kenny, Charles Kooperberg, Donald Lloyd-Jones, Ruth J. F. Loos, Rasika A. Mathias, Stephen T. McGarvey, Braxton D. Mitchell, Kari E. North, Patricia A. Peyser, Bruce M. Psaty, Laura M. Raffield, D. C. Rao, Susan Redline, Alex P. Reiner, Stephen S. Rich, Jerome Rotter, Kent D. Taylor, Russell Tracy, Ramachandran S. Vasan, Alanna C. Morrison, Daniel Levy, Aravinda Chakravarti, Donna K. Arnett, Xiaofeng Zhu
Summary: This study aims to identify low frequency and rare genetic variants within previously reported linkage regions on chromosomes 1 and 19 in African American families. The results showed associations of low frequency and rare variants in RCN3 and multiple other genes with blood pressure traits. The findings were replicated in UK Biobank samples, demonstrating the contribution of RCN3 variants to blood pressure variation. Focusing association analyses in linkage regions reduces multiple-testing burden and improves power to identify novel rare variants associated with blood pressure traits.
Article
Critical Care Medicine
Anna L. Peljto, Rachel Z. Blumhagen, Avram D. Walts, Jonathan Cardwell, Julia Powers, Tamera J. Corte, Joanne L. Dickinson, Ian Glaspole, Yuben P. Moodley, Martina Koziar Vasakova, Elisabeth Bendstrup, Jesper R. Davidsen, Raphael Borie, Bruno Crestani, Philippe Dieude, Francesco Bonella, Ulrich Costabel, Gunnar Gudmundsson, Seamas C. Donnelly, Jim Egan, Michael T. Henry, Michael P. Keane, Marcus P. Kennedy, Cormac McCarthy, Aoife N. McElroy, Joshua A. Olaniyi, Katherine M. A. O'Reilly, Luca Richeldi, Paolo M. Leone, Venerino Poletti, Francesco Puppo, Sara Tomassetti, Valentina Luzzi, Nurdan Kokturk, Nesrin Mogulkoc, Christine A. Fiddler, Nikhil Hirani, R. Gisli Jenkins, Toby M. Maher, Philip L. Molyneaux, Helen Parfrey, Rebecca Braybrooke, Timothy S. Blackwell, Peter D. Jackson, Steven D. Nathan, Mary K. Porteous, Kevin K. Brown, Jason D. Christie, Harold R. Collard, Oliver Eickelberg, Elena E. Foster, Kevin F. Gibson, Marilyn Glassberg, Daniel J. Kass, Jonathan A. Kropski, David Lederer, Angela L. Linderholm, Jim Loyd, Susan K. Mathai, Sydney B. Montesi, Imre Noth, Justin M. Oldham, Amy J. Palmisciano, Cristina A. Reichner, Mauricio Rojas, Jesse Roman, Neil Schluger, Barry S. Shea, Jeffrey J. Swigris, Paul J. Wolters, Yingze Zhang, Cecilia M. A. Prele, Juan I. Enghelmayer, Maria Otaola, Christopher J. Ryerson, Mauricio Salinas, Martina Sterclova, Tewodros H. Gebremariam, Marjukka Myllarniemi, Roberto G. Carbone, Haruhiko Furusawa, Masaki Hirose, Yoshikazu Inoue, Yasunari Miyazaki, Ken Ohta, Shin Ohta, Tsukasa Okamoto, Dong Soon Kim, Annie Pardo, Moises Selman, Alvaro U. Aranda, Moo Suk Park, Jong Sun Park, Jin Woo Song, Maria Molina-Molina, Lurdes Planas-Cerezales, Gunilla Westergren-Thorsson, Albert V. Smith, Ani W. Manichaikul, John S. Kim, Stephen S. Rich, Elizabeth C. Oelsner, R. Graham Barr, Jerome I. Rotter, Josee Dupuis, George O'Connor, Ramachandran S. Vasan, Michael H. Cho, Edwin K. Silverman, Marvin I. Schwarz, Mark P. Steele, Joyce S. Lee, Ivana V. Yang, Tasha E. Fingerlin, David A. Schwartz
Summary: This study investigated the role of rare variants, genome-wide, on the risk of idiopathic pulmonary fibrosis (IPF) using whole-genome sequencing. The results showed that rare variants within the TERT and RTEL1 genes were significantly associated with IPF, along with well-established common variants. Therefore, including TERT, RTEL1, common variants, and environmental risk factors in risk profiling and IPF therapy development is likely to have the largest impact on this complex disease.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Genetics & Heredity
Fan Jiang, Jianying Zhou, Liandong Zuo, Xuewei Tang, Jian Li, Fatao Li, Tianhe Yang, Yanxia Qu, Junhui Wan, Can Liao, Dongzhi Li
Summary: From 2020 to 2022, genetic analysis was conducted on 1,316 families suspected to have children with thalassemia major, including 42 pregnant couples suspected to be thalassemia carriers with rare variants. Multiple techniques were used to diagnose rare thalassemia, with a prenatal diagnosis rate of 3.19% (42/ 1,316). Accurate gene diagnosis using combined molecular biology techniques is crucial for prenatal diagnosis of rare thalassemia.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Qin Liu, Qianting Chen, Zonglei Zhang, Shiyi Peng, Jing Liu, Jialun Pang, Zhengjun Jia, Hui Xi, Jiaqi Li, Libao Chen, Yinyin Liu, Ying Peng
Summary: Routine PCR, Sanger sequencing, and specially designed GAP-PCR have limitations in genetic analysis of thalassemia. This study evaluated a new third-generation sequencing-based method called comprehensive analysis of thalassemia alleles (CATSA) in subjects without variants identified by traditional methods. CATSA identified additional variants in eight subjects, showing great advantages compared to other genetic testing methods.
FRONTIERS IN GENETICS
(2023)
Article
Psychiatry
Shangzhong Li, Lynn E. DeLisi, Stefan McDonough
Summary: An extensive study analyzed whole genome sequences of 61 affected individuals from 15 families, revealing that most schizophrenia polygenic risk scores fell within the control range, while very rare damaging variants in certain candidate disease-related genes were found in six families, indicating their potential contributions to the heritability of schizophrenia.
PSYCHIATRY RESEARCH
(2021)
Article
Clinical Neurology
Yong-Li Jiang, Chang-Geng Song, Hui-Min Zhou, Ban Feng, Jing-Jing Zhao, Yu Liu, Yu-Lin Man, Jing Han, Shui-Bing Liu, Wen Jiang
Summary: Sleep-related hypermotor epilepsy (SHE) is a focal epilepsy syndrome that may be caused by disruption of GABAergic neurotransmission. Rare variants in the GABRG2 gene may contribute to the pathogenesis of SHE. Our study found three rare GABRG2 variants in three unrelated SHE patients and showed that these variants affect GABA-evoked current amplitudes and synaptic clustering and distribution of GABA(A)R.
JOURNAL OF NEUROLOGY
(2022)
Article
Immunology
Samantha J. Donkel, Eliana Portilla Fernandez, Shahzad Ahmad, Fernando Rivadeneira, Frank J. A. van Rooij, M. Arfan Ikram, Frank W. G. Leebeek, Moniek P. M. de Maat, Mohsen Ghanbari
Summary: In this study, a genome-wide association study (GWAS) and exome-sequencing analysis were conducted to identify genetic variants associated with plasma myeloperoxidase (MPO)-DNA complex levels, a biomarker for neutrophil extracellular traps (NETs), in a population-based cohort. Several common and rare genetic variants in candidate genes were found to be associated with NETs levels. Pathway analysis revealed involvement in cellular development, molecular transport, RNA trafficking, and cancer association. Further experimental studies are needed to elucidate the precise mechanisms of how these genes contribute to neutrophil function or NET formation.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Sebastien Kury, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denomme-Pichon, Benjamin Cogne, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Ounap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlene Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Breheret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Severine Audebert-Bellanger, Sylvie Odent, Sebastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill A. Rosenfeld, Michael J. Friez, Helena Perez-Pena, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martinez, Stephane Bezieau, Kristopher T. Kahle, Bertrand Isidor
Summary: This study identified WNK3 gene variants associated with a rare form of X-linked intellectual disability, which showed variable manifestations of epilepsy and structural brain abnormalities. The study also revealed impaired phosphorylation regulation of KCC2 as a possible mechanism underlying the disease.
GENETICS IN MEDICINE
(2022)
Article
Astronomy & Astrophysics
C. J. A. P. Martins, Patrick Peter, I. Yu Rybak, E. P. S. Shellard
Summary: This analytic model extends the VOS model to describe the evolution of superconducting cosmic string networks, and derives equations to describe this evolution. It provides new opportunities for investigating observational signatures under more general equations of state.
Article
Cell Biology
Yasmeen Niazi, Nagarajan Paramasivam, Joanna Blocka, Abhishek Kumar, Stefanie Huhn, Matthias Schlesner, Niels Weinhold, Rolf Sijmons, Mirjam De Jong, Brian Durie, Hartmut Goldschmidt, Kari Hemminki, Asta Foersti
Summary: Multiple myeloma (MM) is a plasma cell malignancy characterized by the over-propagation of a single clone of plasma cells in the bone marrow. The genetic basis of familial MM, particularly within the non-coding genome, is still not well understood. In this study, whole-genome sequencing data was used to identify and characterize variants in the non-coding genome of MM families. The findings confirmed previously implicated biological pathways in MM development and identified 10 genes involved in mitogen-activated protein kinase (MAPK) signaling pathways, which are known to be important in MM.
Article
Medicine, General & Internal
Johanna Krueger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche
Summary: Deleterious KCNQ5 variants identified in GGE lead to LOF and are partially associated with mild to moderate intellectual disability. When mutant channels are co-expressed with wild-type channels, a significant dominant-negative effect is observed.
Article
Environmental Sciences
Dennis Schmiege, Ivana Kraiselburd, Timo Haselhoff, Alexander Thomas, Adrian Doerr, Jule Gosch, Jens Schoth, Burkhard Teichgraeber, Susanne Moebus, Folker Meyer
Summary: Wastewater surveillance of SARS-CoV-2 proved useful in identifying newly identified virus variants. Previous studies focused on large-scale wastewater treatment plants or single buildings, representing only a small number of people, which may be inadequate for detecting emerging or novel virus variants on a small scale within urban areas. This study analyzed SARS-CoV-2 variants in wastewater samples from subsewersheds and a wastewater treatment plant using whole genome sequencing. Multiple specific SARS-CoV-2 variants, including the Omicron variant, were identified. The findings suggest that the small-scale approach is valuable for detecting spatially confined virus variants and further studies should consider the specific features of the wastewater system.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Biology
Tsubasa Ito, Shonosuke Sugasawa
Summary: In this paper, a grouped GEE analysis method is proposed to address the heterogeneity in regression coefficients in longitudinal data modeling. This method divides subjects into groups and assumes that subjects within the same group share the same regression coefficient. An algorithm for grouping subjects and estimating regression coefficients simultaneously is provided, and the asymptotic properties of the estimator are shown.
Article
Immunology
Inna Tabansky, Akemi J. Tanaka, Jiayao Wang, Guanglan Zhang, Irena Dujmovic, Simone Mader, Venkatesh Jeganathan, Tracey DeAngelis, Michael Funaro, Asaff Harel, Mark Messina, Maya Shabbir, Vishaan Nursey, William DeGouvia, Micheline Laurent, Karen Blitz, Peter Jindra, Mark Gudesblatt, Alejandra King, Jelena Drulovic, Edmond Yunis, Vladimir Brusic, Yufeng B. Shen, Derin Keskin, Souhel Najjar, Joel N. H. Stern
Summary: In this study, the authors identified rare genetic variants in the complement pathway and potassium channel genes in NMOSD patients using a retrospective case-control approach. They also found two HLA haplotypes that were more prevalent in NMOSD patients. These findings provide insights into the possible mechanisms of NMOSD and can be useful for investigating potential drug targets.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
David C. Fitzgerald, Annie N. Simpson, Robert A. Baker, Xiaoting Wu, Min Zhang, Michael P. Thompson, Gaetano Paone, Alphonse Delucia, Donald S. Likosky
Summary: In coronary artery bypass grafting surgery, 41.5% of patients receiving red blood cell transfusions were female, older, and had a smaller body surface area. The study results suggest that center-level transfusion variation cannot be fully explained by patient and procedural factors.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)
Article
Cardiac & Cardiovascular Systems
Thomas M. Cascino, Josef Stehlik, Wida S. Cherikh, Yulin Cheng, Tessa M. F. Watt, Alexander A. Brescia, Michael P. Thompson, Jeffrey S. McCullough, Min Zhang, Supriya Shore, Jessica R. Golbus, Francis D. Pagani, Donald S. Likosky, Keith D. Aaronson
Summary: The United States National Organ Procurement Transplant Network implemented changes to improve access to heart transplantation for high-risk patients through the use of short-term mechanical circulatory support. The study found that the use of mechanical circulatory support increased after the policy changes, but there was also an increase in variability between different medical centers.
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2022)
Article
Statistics & Probability
Guangyu Yang, Baqun Zhang, Min Zhang
Summary: This article studies the influence functions of regular and asymptotically linear estimators for linear spline models and proposes a simple estimating method to address the non-differentiability issue in estimating knots. The proposed method is computationally convenient and numerically stable, and it outperforms existing methods in terms of statistical and computational properties.
JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Alexander A. Brescia, Tessa M. F. Watt, Francis D. Pagani, Thomas M. Cascino, Min Zhang, Jeffrey S. McCullough, Supriya Shore, Donald S. Likosky, Keith D. Aaronson, Ryan S. Cantor, Luqin Deng, James K. Kirklin, Michael P. Thompson
Summary: This study assessed the generalizability of left ventricular assist device clinical trial outcomes and found that the mortality rate was significantly higher in trial-ineligible patients compared to trial-eligible patients. Some specific criteria in the eligibility criteria were independently associated with increased mortality.
ANNALS OF THORACIC SURGERY
(2022)
Article
Cardiac & Cardiovascular Systems
Michael J. Pienta, Xiaoting Wu, Thomas M. Cascino, Alexander A. Brescia, Ashraf Abou el Ela, Min Zhang, Jeffrey S. McCullough, Supriya Shore, Keith D. Aaronson, Michael P. Thompson, Francis D. Pagani, Donald S. Likosky
Summary: Interhospital variability in performance for hospitals implanting durable LVADs was reported, highlighting the need to report hospital-level performance and undertake benchmarking activities to reduce unwarranted variability in outcomes.
ANNALS OF THORACIC SURGERY
(2022)
Article
Cardiac & Cardiovascular Systems
Michael Heung, Timothy Dickinson, Xiaoting Wu, David C. Fitzgerald, Alphonse DeLucia, Gaetano Paone, Jeffrey Chores, Donald Nieter, David Grix, Patricia Theurer, Min Zhang, Donald S. Likosky
Summary: This study evaluated the differences in the incidence of acute kidney injury (AKI) after cardiac surgery between Black and White patients. The results showed that, despite accounting for risk factors and intraoperative practices, Black patients had a 50% increased odds of developing moderate-severe AKI compared to White patients.
ANNALS OF THORACIC SURGERY
(2022)
Article
Neurosciences
Marcos Otero-Garcia, Sameehan U. Mahajani, Debia Wakhloo, Weijing Tang, Yue-Qiang Xue, Samuel Morabito, Jie Pan, Jane Oberhauser, Angela E. Madira, Tamara Shakouri, Yongning Deng, Thomas Allison, Zihuai He, William E. Lowry, Riki Kawaguchi, Vivek Swarup, Inma Cobos
Summary: This study investigates the relationship between Tau protein aggregation in neurofibrillary tangles (NFTs) and Alzheimer's disease (AD). Through high-throughput isolation and transcriptome profiling, the researchers found that NFT-bearing neurons show an upregulation of genes related to synaptic transmission, particularly genes involved in synaptic vesicle cycling. They also observed that mitochondrial dysfunction and oxidative phosphorylation vary among different cell types. Interestingly, the susceptibility to apoptosis and death is similar between NFT-bearing and NFT-free neurons.
Article
Genetics & Heredity
Michael E. Belloy, Yann Le Guen, Sarah J. Eger, Valerio Napolioni, Michael D. Greicius, Zihuai He
Summary: In this study, the researchers implemented a robust quality control procedure to handle the Alzheimer Disease Sequencing Project (ADSP) data. They observed variations in allele frequencies across sequencing centers/platforms and developed variant filters to capture and remove these artifacts, which will be important for future genetic association studies on ADSP data and similar studies.
NEUROLOGY-GENETICS
(2022)
Article
Genetics & Heredity
Yi Yang, Chen Wang, Linxi Liu, Joseph Buxbaum, Zihuai He, Iuliana Ionita-Laza
Summary: Family-based designs can eliminate confounding effects and distinguish genetic effects, but suffer from low power due to limited sample sizes. KnockoffTrio is a statistical method that identifies potential causal genetic variants in father-mother-child trio designs. It controls false discovery rate and has shown effectiveness in identifying significant associations in autism spectrum disorder data.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Beatrice S. Goad, Christopher Lee-Messer, Zihuai He, Brenda E. Porter, Fiona M. Baumer
Summary: This study investigated the impact of interictal spikes on brain connectivity in patients with Self-Limited Epilepsy with Centrotemporal Spikes (SeLECTS). The results showed that SeLECTS patients had increased connectivity during sleep, with further elevation during spike and perispike periods. The study is significant in determining whether increased connectivity affects cognition or seizure susceptibility in SeLECTS and more severe epilepsies.
CLINICAL NEUROPHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Fred Lu, Aaron Sossin, Nathan Abell, Stephen B. Montgomery, Zihuai He
Summary: Researchers have developed a deep learning model called MpraNet to identify potential MPRA targets. The model can efficiently distinguish MPRA positives from the background genome, and predict potential MPRA functional variants across the genome. Additionally, the study found that MPRA positives are not uniformly distributed in the genome and proposed the model as a screen for filtering MPRA experiment candidates.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Multidisciplinary Sciences
Zihuai He, Linxi Liu, Michael E. Belloy, Yann Le Guen, Aaron Sossin, Xiaoxia Liu, Xinran Qi, Shiyang Ma, Prashnna K. Gyawali, Tony Wyss-Coray, Hua Tang, Chiara Sabatti, Emmanuel Candes, Michael D. Greicius, Iuliana Ionita-Laza
Summary: The authors present GhostKnockoff, a method for genome-wide association studies which can be applied to enhance existing and future studies to identify functional variants with weaker statistical effects that might be missed by conventional association tests.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Yann Le Guen, Guo Luo, Aditya Ambati, Vincent Damotte, Iris Jansen, Eric Yu, Aude Nicolas, Itziar de Rojasj, Thiago Peixoto Leal, Akinori Miyashita, Celine Bellenguez, Michelle Mulan Lian, Kayenat Parveen, Takashi Morizono, Hyeonseul Park, Benjamin Grenier-Boley, Tatsuhiko Naito, Fahri Kucukali, Seth D. Talyansky, Selina Maria Yogeshwar, Vicente Sempere, Wataru Satake, Victoria Alvarez, Beatrice Arosio, Michael E. Belloy, Luisa Benussi, Anne Boland, Barbara Borroni, Maria J. Bullido, Paolo Caffarra, Jordi Clarimon, Antonio Daniele, Daniel Darling, Stephanie Debette, Jean-Francois Deleuze, Martin Dichgans, Carole Dufouil, Emmanuel During, Emrah Duzel, Daniela Galimberti, Guillermo Garcia-Ribas, Jose Maria Garcia-Alberca, Pablo Garcia-Gonzalez, Vilmantas Giedraitis, Oliver Goldhardt, Caroline Graff, Edna Grunblatt, Olivier Hanon, Lucrezia Hausner, Stefanie Heilmann-Heimbach, Henne Holstege, Jakub Hort, Yoo Jin Jung, Deckert Jurgen, Silke Kern, Teemu Kuulasmaa, Kun Ho Lee, Ling Lin, Carlo Masullo, Patrizia Mecocci, Shima Mehrabian, Alexandre de Mendonca, Merce Boada, Pablo Mir, Susanne Moebus, Fermin Moreno, Benedetta Nacmias, Gael Nicolas, Shumpei Niida, Borge G. Nordestgaard, Goran Papenberg, Janne Papma, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Oliver Peters, Yolande A. L. Pijnenburg, Gerard Pinol-Ripoll, Julius Popp, Laura Molina Porcel, Raquel Puertaj Jordi Perez-Tur, Innocenzo Rainero, Inez Ramakers, Luis M. Real, Steffi Riedel-Heller, Eloy Rodriguez-Rodriguez, Owen A. Ross, Jose Luis Royo, Dan Rujescu, Nikolaos Scarmeas, Philip Scheltens, Norbert Scherbaum, Anja Schneider, Davide Seripa, Ingmar Skoog, Vincenzo Solfrizzi, Gianfranco Spalletta, Alessio Squassina, John van Swieten, Raquel Sanchez-Valle, Eng-King Tan, Thomas Tegos, Charlotte Teunissen, Jesper Qvist Thomassen, Lucio Tremolizzo, Martin Vyhnalek, Frans Verhey, Margda Waern, Jens Wiltfang, Jing Zhangc, Henrik Zetterberg, Kaj Blennow, Zihuai He, Julie Williams, Philippe Amouyel, Frank Jessen, Patrick G. Kehoe, Ole A. Andreassen, Cornelia Van Duin, Magda Tsolaki, Pascual Sanchez-Juan, Ruth Frikke-Schmidt, Kristel Sleegers, Tatsushi Todau, Anna Zettergren, Martin Ingelsson, Yukinori Okada, Giacomina Rossi, Mikko Hiltunen, Jungsoo Gim, Kouichi Ozaki, Rebecca Sims, Jia Nee Foo, Wiesje van der Fliere, Takeshi Ikeuchi, Alfredo Ramirez, Ignacio Mata, Agustin Ruiz, Ziv Gan-Or, Jean-Charles Lambert, Michael D. Greicius, Emmanuel Mignot
Summary: We analyzed the HLA associations in individuals with Parkinson's disease and Alzheimer's disease across different ancestry groups and found that these two diseases share a common protective association at the HLA locus. Fine-mapping showed that specific subtypes of HLA-DRB1*04 were responsible for this association, with HLA-DRB1*04:04 and HLA-DRB1*04:07 showing the strongest association. This protective effect was also associated with decreased neurofibrillary tangles in the brain and reduced levels of tau protein in cerebrospinal fluid.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biology
Prashnna K. Gyawali, Yann Le Guen, Xiaoxia Liu, Michael E. Belloy, Hua Tang, James Zou, Zihuai He
Summary: Risk prediction models using genetic data are important in genomics. However, most models are developed using data from participants with similar ancestry, leading to poor prediction for minority populations. To address this, we propose a deep-learning framework that leverages diverse population data and separates ancestry from phenotype-relevant information, improving risk prediction for minority populations.
COMMUNICATIONS BIOLOGY
(2023)
Article
Geriatrics & Gerontology
Anna Graber-Naidich, Justin Lee, Kyan Younes, Michael D. Greicius, Yann Le Guen, Zihuai He
Summary: This study confirms the association between a history of bumetanide exposure and reduced AD risk in another sample, while also highlighting an association between the most common loop diuretic (furosemide) and reduced AD risk. These associations need to be further replicated, and the mechanism of action remains to be investigated.
FRONTIERS IN AGING
(2023)