Article
Multidisciplinary Sciences
Margaret M. Parker, Scott M. Damrauer, Catherine Tcheandjieu, David Erbe, Emre Aldinc, Philip N. Hawkins, Julian D. Gillmore, Leland E. Hull, Julie A. Lynch, Jacob Joseph, Simina Ticau, Alexander O. Flynn-Carroll, Aimee M. Deaton, Lucas D. Ward, Themistocles L. Assimes, Philip S. Tsao, Kyong-Mi Chang, Daniel J. Rader, Kevin Fitzgerald, Akshay K. Vaishnaw, Gregory Hinkle, Paul Nioi
Summary: Carriers of the V122I mutation exhibit a higher risk of polyneuropathy in the UK Biobank, Penn Medicine Biobank, and Million Veteran Program. This underscores the underdiagnosis of hereditary transthyretin-mediated amyloidosis in V122I carriers and the importance of understanding the manifestations associated with this mutation for earlier diagnosis and treatment.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Jeffrey Z. Shije, Maria A. B. Bautista, Carmen Smotherman
Summary: The likelihood of African Americans with bilateral CTS having the V122I mutation may be higher than 3-4%. The presence of bilateral CTS alone may justify screening for the TTR mutation in this population.
FRONTIERS IN NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Gregoire Albenque, Melanie Bezard, Mounira Kharoubi, Shirley Odouard, Ariane Lunati, Elsa Poullot, Amira Zaroui, Emmanuel Teiger, Luc Hittinger, Vincent Audard, Khalil El Karoui, Benoit Funalot, Pascale Fanen, Thibaud Damy, Silvia Oghina
Summary: This study compared the phenotype and prognosis of heterozygous and homozygous patients with ATTRv V122I amyloidosis. It found that homozygous patients had earlier onset, more severe disease, and higher rates of death and cardiac events.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2023)
Article
Clinical Neurology
Murva Asad, Niamh Bermingham, Brian McNamara, Peter Kearney, Aisling M. Ryan
Summary: In this study, we described the phenotype of the p.His110Asp mutation in two Irish families. Importantly, we highlighted the cardiac involvement which was previously not emphasized. The discovery of a new unrelated family emphasizes the importance of clinical suspicion even in patients without known family history. We suggest considering this important transthyretin mutation in patients of Irish origin.
JOURNAL OF NEUROLOGY
(2022)
Article
Health Care Sciences & Services
Emily R. Soper, Sabrina A. Suckiel, Giovanna T. Braganza, Amy R. Kontorovich, Eimear E. Kenny, Noura S. Abul-Husn
Summary: The TTR V142I variant associated with hereditary transthyretin amyloidosis is present in a small percentage of African American and Hispanic/Latinx individuals, increasing the risk for heart failure. Genomic screening can effectively identify individuals at risk for hATTR early on, allowing for prompt risk management to prevent delays in diagnosis and treatment.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Masatoshi Minamisawa, Riccardo M. Inciardi, Brian Claggett, Sarah A. M. Cuddy, Candida C. Quarta, Amil M. Shah, Sharmila Dorbala, Rodney H. Falk, Kunihiro Matsushita, Dalane W. Kitzman, Lin Y. Chen, Scott D. Solomon
Summary: This study showed that carriers of the V122I TTR variant in African-Americans have significant left atrial enlargement and dysfunction compared to non-carriers, suggesting that abnormalities in left atrial function may be early markers of subclinical disease in this population.
EUROPEAN JOURNAL OF HEART FAILURE
(2021)
Article
Medicine, General & Internal
Brian B. Agbor-Etang, Henry E. Okafor, Eric H. Farber-Eger, Quinn S. Wells
Summary: Carriers of the TTR V122I variant, especially those over 60 years old, are at a higher risk for developing cardiac amyloidosis, but clinically apparent cardiac amyloidosis in this population is uncommon.
AMERICAN JOURNAL OF MEDICINE
(2021)
Article
Genetics & Heredity
Jia Wen, Munan Xie, Bryce Rowland, Jonathan D. Rosen, Quan Sun, Amanda L. Tapia, Huijun Qian, Madeline H. Kowalski, Yue Shan, Kristin L. Young, Marielisa Graff, Maria Argos, Christy L. Avery, Stephanie A. Bien, Steve Buyske, Jie Yin, Helene Choquet, Myriam Fornage, Chani J. Hodonsky, Eric Jorgenson, Charles Kooperberg, Ruth J. F. Loos, Yongmei Liu, Jee-Young Moon, Kari E. North, Stephen S. Rich, Jerome Rotter, Jennifer A. Smith, Wei Zhao, Lulu Shang, Tao Wang, Xiang Zhou, Alexander P. Reiner, Laura M. Raffield, Yun Li
Summary: This study utilized datasets from different populations to establish gene expression prediction models and conduct transcriptome-wide association studies, identifying several suggestive signals with potential research value that were successfully replicated in other populations. The findings highlight the importance of performing genetic analyses across diverse populations and balancing sample size and ancestry background matching when selecting a reference panel for such analyses.
Review
Biochemistry & Molecular Biology
Alejandra Gonzalez-Duarte, Alfredo Ulloa-Aguirre
Summary: TTR amyloidogenesis involves the formation, aggregation, and deposition of amyloid fibrils from tetrameric TTR in different organs and tissues. The molecular causes leading to amyloidosis may differ between different variants, but therapeutic approaches have evolved from orthotopic liver transplants to novel disease-modifying therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, Research & Experimental
Frederik Denorme, Nicole D. Armstrong, Michelle L. Stoller, Irina Portier, Emilia A. Tugolukova, Rikki M. Tanner, Emilie Montenont, Seema Bhatlekar, Mark Cody, John L. Rustad, Abigail Ajanel, Neal D. Tolley, Darian C. Murray, Julie L. Boyle, Marvin T. Nieman, Steven E. Mckenzie, Christian Con Yost, Leslie A. Lange, Mary Cushman, Marguerite R. Irvin, Paul F. Bray, Robert A. Campbell
Summary: Protease-activated receptor 4 (PAR4) gene harbors a functional dimorphism associated with greater platelet aggregation, and the A allele frequency is more common in Black individuals. In this study, it was found that the A allele is associated with worse stroke outcomes and increased risk of incident ischemic stroke. Mice studies further demonstrated that mice expressing the Thr120 variant had worse stroke outcomes mediated by enhanced platelet activation and platelet-neutrophil interactions, while specific antiplatelet therapy showed improvement only in mice expressing the Ala120 variant.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Genetics & Heredity
Maria S. Saez, Maria A. Aguirre, Diego Perez de Arenaza, Patricia Sorroche, Elsa Nucifora, Maria L. Posadas Martinez
Summary: This study presents the first prevalence report of TTR mutations in a reference center of amyloidosis in Argentina, with the most frequent genetic variant being p.Val50Met. The data demonstrate considerable phenotypic heterogeneity in patients with ATTRv.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Cardiac & Cardiovascular Systems
Amandeep Goyal, Shubham Lahan, Tarun Dalia, Sagar Ranka, Venugopal Brijmohan Bhattad, Ronak R. Patel, Zubair Shah
Summary: The V122I genotype variant is the most common hereditary transthyretin amyloidosis in the USA, predominantly affecting African-Americans. Compared to other subtypes, patients with V122I have a higher mortality rate and more aggressive disease progression.
HEART FAILURE REVIEWS
(2022)
Article
Cardiac & Cardiovascular Systems
Julia Kozlitina, Sonia Garg, Mark H. Drazner, Susan A. Matulevicius, Colby Ayers, John Overton, Jeffrey Reid, Aris Baras, Krishnasree Rao, Ambarish Pandey, Jarett Berry, James A. de Lemos, Justin L. Grodin
Summary: V122I TTR carriers exhibit slightly increased left ventricular wall thickness and higher levels of NT-proBNP, and are at a greater risk for heart failure, cardiovascular death, and all-cause mortality compared to noncarriers.
JOURNAL OF CARDIAC FAILURE
(2022)
Article
Medicine, General & Internal
Yuya Aono, Yasuhiro Hamatani, Nagaaki Katoh, Mayuko Nakagawa, Katsuya Nakamura, Masahide Yazaki, Fuyuki Kametani, Moritake Iguchi, Ikuko Murakami, Hisashi Ogawa, Mitsuru Abe, Masaharu Akao, Yoshiki Sekijima
Summary: The patient, an 82-year-old Japanese man with no family history of amyloidosis, was diagnosed with severe ATTR amyloid deposits. A genetic analysis revealed a missense variant in the TTR gene, which was predicted to only modestly alter the structure and function of the TTR protein. This variant may be associated with an elderly-onset cardiac-dominant ATTRv phenotype.
Article
Clinical Neurology
Kang Du, Fan Li, Hui Wang, Yuanfeng Miao, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan, Lingchao Meng
Summary: This study aimed to report the genotypes and phenotypes of hereditary transthyretin amyloidosis (ATTR) in a large Chinese cohort. The results showed that Chinese patients with ATTR exhibited heterogeneous TTR genotypes and clinical phenotypes, with Va130Met remaining the most common mutation type in mainland China.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Ashish Correa, Aditya A. Joshi, Edgar Argulian
JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
(2023)
Article
Urology & Nephrology
Miguel Verbitsky, Sarathbabu Krishnamurthy, Priya Krithivasan, Daniel Hughes, Atlas Khan, Maddalena Marasa, Natalie Vena, Pavan Khosla, Junying Zhang, Tze Y. Lim, Joseph T. Glessner, Chunhua Weng, Ning Shang, Yufeng Shen, George Hripcsak, Hakon Hakonarson, Iuliana Ionita-Laza, Brynn Levy, Eimear E. Kenny, Ruth J. F. Loos, Krzysztof Kiryluk, Simone Sanna-Cherchi, David R. Crosslin, Susan Furth, Bradley A. Warady, Robert P. Igo Jr, Sudha K. Iyengar, Craig S. Wong, Afshin Parsa, Harold I. Feldman, Ali G. Gharavi
Summary: The prevalence of genomic disorders (GDs) was higher in patients with chronic kidney disease (CKD) compared to controls. Children with CKD had a higher rate of GDs (3.6%) compared to adults with CKD (1.1%). GDs were associated with comorbidities such as diabetes and neuropsychiatric symptoms.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Genetics & Heredity
Arden Moscati, Annika B. Faucon, Cayetana Arnaiz-Yepez, Sara Larsson Lonn, Jan Sundquist, Kristina Sundquist, Gillian M. Belbin, Girish Nadkarni, Judy H. Cho, Ruth J. F. Loos, Lea K. Davis, Kenneth S. Kendler
Summary: Fibromyalgia is a complex disease with unknown causes, making diagnosis and treatment challenging. By analyzing healthcare-based data, it has been found that fibromyalgia is linked to various conditions such as back pain, rheumatoid arthritis, and anxiety. Genetic predispositions to psychiatric, pain sensitivity, and autoimmune conditions have been confirmed to be associated with fibromyalgia, though the associations may vary among different ethnic groups. Genome-wide association analysis did not identify any significant genetic loci for fibromyalgia, indicating the need for larger studies to identify specific genetic effects. Overall, fibromyalgia is likely a composite manifestation of various disease categories.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2023)
Article
Cardiac & Cardiovascular Systems
Aeron M. Small, Gina M. Peloso, Jason Linefsky, Jayashri Aragam, Ashley Galloway, Vidisha Tanukonda, Lu-Chen Wang, Zhi Yu, Margaret Sunitha H. Selvaraj, Eric H. T. Farber-Eger, Michael T. Baker, Shefali Setia-Verma, Simon S. K. Lee, Michael D. Preuss, Marylyn D. M. Ritchie, Scott M. J. Damrauer, Daniel J. S. Rader, Quinn S. Wells, Ruth A. Loos, Steven A. Lubitz, George Thanassoulis, Kelly Cho, Peter W. F. Wilson, Pradeep J. Natarajan, Christopher J. O'Donnell
Summary: This study conducted a genome-wide association study and identified 23 significant genetic variants associated with calcific aortic stenosis (CAS). The study also revealed the involvement of lipid metabolism, inflammation, cellular senescence, and obesity in the pathobiology of CAS. Furthermore, it compared the genetic architecture of CAS with atherosclerotic cardiovascular diseases.
Article
Endocrinology & Metabolism
Aaron J. Deutsch, Lauren Stalbow, Timothy D. Majarian, Josep M. Mercader, Alisa K. Manning, Jose C. Florez, Ruth J. F. Loos, Miriam S. Udler
Summary: Self-reported race may affect the accuracy of automated algorithms in identifying individuals with type 1 diabetes. The study found that incorporating polygenic scores can improve the identification of type 1 diabetes.
Article
Endocrinology & Metabolism
Alicia Huerta-Chagoya, Philip Schroeder, Ravi J. Mandla, Aaron Deutsch, Wanying Zhu, Lauren Petty, Xiaoyan Yi, Joanne B. Cole, Miriam S. Udler, Peter Dornbos, Bianca Porneala, Daniel DiCorpo, Ching-Ti H. Liu, Josephine Li, Lukasz Szczerbinski, Varinderpal Kaur, Joohyun Kim, Yingchang Lu, Alicia Martin, Decio L. Eizirik, Piero Marchetti, Lorella Marselli, Ling Chen, Shylaja Srinivasan, Jennifer Todd, Jason Flannick, Rose Gubitosi-Klug, Lynne Levitsky, Rachana Shah, Megan Kelsey, Brian Burke, Dana M. Dabelea, Jasmin Divers, Santica Marcovina, Lauren Stalbow, Ruth J. F. Loos, Burcu F. Darst, Charles Kooperberg, Laura M. Raffield, Christopher Haiman, Quan Sun, Joseph B. McCormick, Susan P. Fisher-Hoch, Maria L. Ordonez, James J. Meigs, Leslie Baier, Clicerio Gonzalez-Villalpando, Maria Elena Gonzalez-Villalpando, Lorena Orozco, Lourdes Garcia-Garcia, Andres A. Moreno-Estrada, Carlos Aguilar-Salinas, Teresa Tusie, Josee Dupuis, Maggie C. Y. Ng, Alisa M. Manning, Heather Highland, Miriam Cnop, Robert Hanson, Jennifer Below, Jose C. Florez, Aaron M. Leong, Josep Mercader
Summary: The Latino population has been underrepresented in genetic analyses, and previous studies have used suboptimal imputation methods. The TOPMed panel provides a better platform for studying rare genetic variations in the Latino population. Our study demonstrates the utility of TOPMed imputation in identifying novel disease associations and improving polygenic scores in understudied populations.
Article
Environmental Sciences
M. N. S. Figaroa, M. Gielen, L. Casas, R. J. F. Loos, C. Derom, S. Weyers, T. S. Nawrot, M. P. Zeegers, E. M. Bijnens
Summary: This study fills a research gap by examining the associations between early-life exposure to residential green spaces and traffic exposure, and adult body composition among young adult twins. The findings suggest that increasing distance to the highway and increasing landcover of green spaces are associated with unfavorable body composition. Differential effects of prenatal exposure to green spaces on body composition were observed based on zygosity/chorionicity type.
ENVIRONMENTAL HEALTH
(2023)
Article
Multidisciplinary Sciences
Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y. Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A. E. van Wijk, Danko Milosevic, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simos e Silva, Ruth J. F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson
Summary: In this study, a multi-population GWAS meta-analysis was conducted to investigate the genetic architecture of pSSNS. Twelve significant associations were discovered, including novel loci and specific amino acid haplotypes in HLA-DQA1 and HLA-DQB1 that drive the HLA Class II risk locus. Non-HLA loci were found to colocalize with eQTLs of monocytes and T-cell subsets. The findings provide insights into the molecular drivers of pSSNS and highlight the importance of evaluating these associations in different populations.
NATURE COMMUNICATIONS
(2023)
Article
Multidisciplinary Sciences
Joshua S. Weinstock, Cecelia A. Laurie, Jai G. Broome, Kent D. Taylor, Xiuqing Guo, Alan R. Shuldiner, Jeffrey R. O'Connell, Joshua P. Lewis, Eric Boerwinkle, Kathleen C. Barnes, Nathalie Chami, Eimear E. Kenny, Ruth J. F. Loos, Myriam Fornage, Susan Redline, Brian E. Cade, Frank D. Gilliland, Zhanghua Chen, W. James Gauderman, Rajesh Kumar, Leslie Grammer, Robert P. Schleimer, Bruce M. Psaty, Joshua C. Bis, Jennifer A. Brody, Edwin K. Silverman, Jeong H. Yun, Dandi Qiao, Scott T. Weiss, Jessica Lasky-Su, Dawn L. DeMeo, Nicholette D. Palmer, Barry I. Freedman, Donald W. Bowden, Michael H. Cho, Ramachandran S. Vasan, Andrew D. Johnson, Lisa R. Yanek, Lewis C. Becker, Sharon Kardia, Jiang He, Robert Kaplan, Susan R. Heckbert, Nicholas L. Smith, Kerri L. Wiggins, Donna K. Arnett, Marguerite R. Irvin, Hemant Tiwari, Adolfo Correa, Laura M. Raffield, Yan Gao, Mariza de Andrade, Jerome I. Rotter, Stephen S. Rich, Ani W. Manichaikul, Barbara A. Konkle, Jill M. Johnsen, Marsha M. Wheeler, Brian S. Custer, Ravindranath Duggirala, Joanne E. Curran, John Blangero, Hongsheng Gui, Shujie Xiao, L. Keoki Williams, Deborah A. Meyers, Xingnan Li, Victor Ortega, Stephen McGarvey, C. Charles Gu, Yii-Der Ida Chen, Wen-Jane Lee, M. Benjamin Shoemaker, Dawood Darbar, Dan Roden, Christine Albert, Charles Kooperberg, Pinkal Desai, Thomas W. Blackwell, Goncalo R. Abecasis, Albert V. Smith, Hyun M. Kang, Rasika Mathias, Pradeep Natarajan, Siddhartha Jaiswal, Alexander P. Reiner, Alexander G. Bick
Summary: Based on the analysis of 43,693 blood whole genomes, researchers discovered 7131 recurrent non-missense somatic mutations (RNMSMs) that are associated with blood cell traits and human health consequences, and their prevalence increases with age.
Article
Cardiac & Cardiovascular Systems
Mengyao Yu, Matthew Aguirre, Meiwen Jia, Ketrin Gjoni, Aldo Cordova-Palomera, Chad Munger, Dulguun Amgalan, X. Rosa Ma, Alexandre Pereira, Catherine Tcheandjieu, Christine Seidman, Jonathan Seidman, Martin Tristani-Firouzi, Wendy Chung, Elizabeth Goldmuntz, Deepak Srivastava, Ruth J. F. Loos, Nathalie Chami, Heather Cordell, Martina Dressen, Bertram Mueller-Myhsok, Harald Lahm, Markus Krane, Katherine S. Pollard, Jesse M. Engreitz, Sarah Gagliano A. Taliun, Bruce D. Gelb, James R. Priest
Summary: This study identified rare noncoding variants associated with specific types of congenital heart malformations and linked them to genes governing cardiac development. The results suggest that the genetic basis of congenital heart disease may be linked to rare variants outside protein-coding regions, and the risk for different types of congenital heart malformations is separate and independent.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Christopher Hubel, Mohamed Abdulkadir, Moritz Herle, Alish B. Palmos, Ruth J. F. Loos, Gerome Breen, Nadia Micali, Cynthia M. Bulik
Summary: Thinness and anorexia nervosa are characterized by persistent low weight, but they differ in terms of distorted perceptions of body and weight-loss behaviors. Genetic correlations suggest that thinness is negatively associated with psychiatric disorders, distinguishing it from anorexia nervosa.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Multidisciplinary Sciences
Yordi van de Vegte, Ruben P. Eppinga, M. Yldau van der Ende, Yanick Hagemeijer, Yuvaraj V. Mahendran, Elias Y. Salfati, Albert E. Smith, Vanessa Tan, Dan V. Arking, Ioanna Ntalla, Emil A. Appel, Claudia Schurmann, Jennifer Brody, Rico Rueedi, Ozren Polasek, Gardar Sveinbjornsson, Cecile Lecoeur, Claes Ladenvall, Jing Hua Zhao, Aaron Isaacs, Lihua Wang, Jian'an Luan, Shih-Jen Hwang, Nina U. Mononen, Kirsi F. Auro, Anne Jackson, Lawrence Bielak, Linyao Zeng, Nabi Shah, Maria Nethander, Archie Campbell, Tuomo Rankinen, Sonali Pechlivanis, Lu Qi, Wei Zhao, Federica Rizzi, Toshiko Tanaka, Antonietta Robino, Massimiliano Cocca, Leslie Lange, Martina Mueller-Nurasyid, Carolina E. Roselli, Weihua Zhang, Marcus J. Kleber, Xiuqing Guo, Henry E. Lin, Francesca Pavani, Tessel Galesloot, Raymond E. Noordam, Yuri Milaneschi, Katharina Schraut, Marcel den Hoed, Frauke E. Degenhardt, Stella Trompet, Marten van den Berg, Giorgio Pistis, Yih-Chung S. Tham, Stefan L. Weiss, Xueling J. Sim, Hengtong M. Li, Peter van der Most, Ilja Nolte, Leo-Pekka R. Lyytikaeinen, M. Abdullah Said, Daniel Witte, Carlos M. Iribarren, Lenore S. Launer, Susan Ring, Paul de Vries, Peter P. Sever, Allan Linneberg, Erwin M. Bottinger, Sandosh Padmanabhan, Bruce Psaty, Nona Sotoodehnia, Ivana Kolcic, Delnaz D. Roshandel, Andrew O. Paterson, David F. Arnar, Daniel Gudbjartsson, Hilma Holm, Beverley T. Balkau, Claudia H. Silva, Christopher Newton-Cheh, Kjell Nikus, Perttu L. Salo, Karen A. Mohlke, Patricia Peyser, Heribert Schunkert, Mattias Lorentzon, Jari C. Lahti, Dabeeru C. Rao, Marilyn D. Cornelis, Jessica A. Faul, Jennifer Smith, Katarzyna Stolarz-Skrzypek, Stefania Bandinelli, Maria Pina Concas, Gianfranco Sinagra, Thomas Meitinger, Melanie F. Waldenberger, Moritz Sinner, Konstantin E. Strauch, Graciela D. Delgado, Kent Taylor, Jie Yao, Luisa Foco, Olle Melander, Jacqueline de Graaf, Renee de Mutsert, Eco J. C. de Geus, Asa K. Johansson, Peter K. Joshi, Lars Lind, Andre W. Franke, Peter V. Macfarlane, Kirill Tarasov, Nicholas B. Tan, Stephan Felix, E-Shyong Q. Tai, Debra Quek, Harold Snieder, Johan Ormel, Martin Ingelsson, Cecilia P. Lindgren, Andrew T. Morris, Olli Raitakari, Torben Hansen, Themistocles Assimes, Vilmundur J. Gudnason, Nicholas C. Timpson, Alanna B. Morrison, Patricia P. Munroe, David Strachan, Niels Grarup, Ruth J. F. R. Loos, Susan Heckbert, Peter Vollenweider, Caroline Hayward, Kari Stefansson, Philippe Froguel, Leif J. Groop, Nicholas M. Wareham, Cornelia F. van Duijn, Mary J. Feitosa, Christopher O'Donnell, Mika Kaehoenen, Markus Perola, Michael Boehnke, Sharon L. R. Kardia, Jeanette Erdmann, Colin N. A. Palmer, Claes J. Ohlsson, David G. Porteous, Johan Eriksson, Claude Bouchard, Susanne Moebus, Peter R. Kraft, David Weir, Daniele Cusi, Luigi Ferrucci, Sheila Ulivi, Giorgia Girotto, Adolfo Correa, Stefan Kaeaeb, Annette C. Peters, John S. Chambers, Jaspal Kooner, Winfried I. Maerz, Jerome A. Rotter, Andrew Hicks, J. Gustav Smith, Lambertus A. L. M. O. Kiemeney, Dennis Mook-Kanamori, Brenda W. J. H. Penninx, Ulf F. Gyllensten, James Wilson, Stephen Burgess, Johan Sundstroem, Wolfgang Lieb, J. Wouter Jukema, Mark Eijgelsheim, Edward L. M. Lakatta, Ching-Yu Cheng, Marcus Doerr, Tien-Yin Wong, Charumathi J. Sabanayagam, Albertine Oldehinkel, Harriette Riese, Terho Lehtimaeki, Niek Verweij, Pim van der Harst
Summary: This study identifies new genetic variants associated with resting heart rate (RHR) and demonstrates that higher genetically predicted RHR is associated with a decreased risk of atrial fibrillation and ischemic stroke. Genome-wide analysis reveals multiple genetic variants in cardiomyocyte-related genes and provides insights into their electrocardiogram (ECG) signature. Mendelian randomization analyses indicate that higher genetically predicted RHR increases the risk of dilated cardiomyopathy, but reduces the risk of atrial fibrillation, ischemic stroke, and cardio-embolic stroke.
NATURE COMMUNICATIONS
(2023)
Review
Environmental Sciences
Sandra India-Aldana, Meizhen Yao, Vishal Midya, Elena Colicino, Leda Chatzi, Jaime Chu, Chris Gennings, Dean P. Jones, Ruth J. F. Loos, Veronica W. Setiawan, Mathew Ryan Smith, Ryan W. Walker, Dinesh Barupal, Douglas I. Walker, Damaskini Valvi
Summary: There is an increasing interest in exploring the health effects of exposure to per- and polyfluoroalkyl substances (PFAS) through the examination of the human metabolome. This systematic review identified consistent associations between PFAS exposure and metabolomic signatures based on 28 observational studies. The most common PFAS exposure evaluated was legacy long-chain PFAS, and the associations were found between PFAS and various metabolites including amino acids, fatty acids, glycerophospholipids, and bile acids. These findings suggest that PFAS can disrupt lipid and amino acid metabolism, potentially affecting energy and cell membrane function.
CURRENT POLLUTION REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Moa P. Lee, Sofia F. Dimos, Laura M. Raffield, Zhe Wang, Anna F. Ballou, Carolina G. Downie, Christopher H. Arehart, Adolfo Correa, Paul S. de Vries, Zhaohui Du, Christopher R. Gignoux, Penny Gordon-Larsen, Xiuqing Guo, Jeffrey Haessler, Annie Green Howard, Yao Hu, Helina Kassahun, Shia T. Kent, J. Antonio G. Lopez, Keri L. Monda, Kari E. North, Ulrike Peters, Michael H. Preuss, Stephen S. Rich, Shannon L. Rhodes, Jie Yao, Rina Yarosh, Michael Y. Tsai, Jerome Rotter, Charles L. Kooperberg, Ruth J. F. Loos, Christie Ballantyne, Christy L. Avery, Mariaelisa Graff
Summary: This study examined the genetic architecture and phenotypic effects of lipoprotein(a) (Lp(a)) using data from ancestrally diverse populations. It identified genome-wide significant loci associated with Lp(a) and constructed polygenic risk scores (PRS) that could accurately predict Lp(a) levels in different populations. The study also found associations between Lp(a) PRS and coronary atherosclerosis and ischaemic heart disease in Hispanic/Latino populations.
Article
Medicine, Research & Experimental
Akhil Vaid, Edgar Argulian, Stamatios Lerakis, Brett K. Beaulieu-Jones, Chayakrit Krittanawong, Eyal Klang, Joshua Lampert, Vivek Y. Reddy, Jagat Narula, Girish N. Nadkarni, Benjamin S. Glicksberg
Summary: The valves of the heart play a crucial role in maintaining the correct flow of blood. Valvular disease, such as backflow or narrowing, can lead to heart failure. Current methods for diagnosis involve echocardiograms, but a new computer software using deep learning neural networks can potentially diagnose valvular disease from electrocardiograms (ECGs), allowing for earlier detection and improved prognosis.
COMMUNICATIONS MEDICINE
(2023)