Article
Endocrinology & Metabolism
Eliza Fraszczyk, Annemieke M. W. Spijkerman, Yan Zhang, Stefan Brandmaier, Felix R. Day, Li Zhou, Paul Wackers, Martijn E. T. Dolle, Vincent W. Bloks, Xin Gao, Christian Gieger, Jaspal Kooner, Jennifer Kriebel, H. Susan J. Picavet, Wolfgang Rathmann, Ben Schottker, Marie Loh, W. M. Monique Verschuren, Jana V. Van Vliet-Ostaptchouk, Nicholas J. Wareham, John C. Chambers, Ken K. Ong, Harald Grallert, Hermann Brenner, Mirjam Luijten, Harold Snieder
Summary: This study aimed to identify predictive methylation markers for incident type 2 diabetes by combining results from five European cohorts. The results showed an association between DNA methylation levels and incident type 2 diabetes, which was consistent across different ethnicities. Furthermore, BMI partly explained this association.
Article
Public, Environmental & Occupational Health
Tiberiu A. Pana, Mohsen Dehghani, Hamid Reza Baradaran, Samuel R. Neal, Adrian D. Wood, Chun Shing Kwok, Yoon K. Loke, Robert N. Luben, Mamas A. Mamas, Kay-Tee Khaw, Phyo Kyaw Myint
Summary: Through analysis of data from the European Prospective Investigation of Cancer, Norfolk cohort, it was found that moderate calcium intake may reduce the risk of cardiovascular disease and all-cause mortality, while also potentially providing protection against future stroke. Calcium supplementation appears to have a beneficial effect on mortality rates in women, but not in men.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2021)
Review
Oncology
Yujing Xia, Alison Brewer, Jordana T. Bell
Summary: Coronary heart disease (CHD) is a major global cause of mortality. Recent studies have identified DNA methylation signatures associated with CHD development, suggesting their potential use in predicting future CHD events. New mechanisms involved in CHD progression have been uncovered through DNA methylation studies.
CLINICAL EPIGENETICS
(2021)
Article
Geriatrics & Gerontology
Sarah L. Perrott, Kathryn Martin, Victoria L. Keevil, Nicholas J. Wareham, Kay -Tee Khaw, Phyo Kyaw Myint
Summary: Calcaneal ultrasound (BUA) can predict future physical capability among middle-aged and older adults, providing a way to identify individuals at risk of age-related deterioration of health.
Article
Environmental Sciences
Rongbin Xu, Shuai Li, Shanshan Li, Ee Ming Wong, Melissa C. Southey, John L. Hopper, Michael J. Abramson, Yuming Guo
Summary: The study found associations between surrounding greenness and blood DNA methylation, which could be modified by genetic variations.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Medicine, General & Internal
Manuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, Damiana Alvarez-Errico, Carles Arribas, Montserrat Ruiz, Sergio Aguilera-Albesa, Jesus Troya, Juan Valencia-Ramos, Valentina Velez-Santamaria, Agusti Rodriguez-Palmero, Judit Villar-Garcia, Juan P. Horcajada, Sergiu Albu, Carlos Casasnovas, Anna Rull, Laia Reverte, Beatriz Dietl, David Dalmau, Maria J. Arranz, Laia Llucia-Carol, Anna M. Planas, Jordi Perez-Tur, Israel Fernandez-Cadenas, Paula Villares, Jair Tenorio, Roger Colobran, Andrea Martin-Nalda, Pere Soler-Palacin, Francesc Vidal, Aurora Pujol, Manel Esteller
Summary: An epigenome-wide association study identified 44 CpG sites associated with the clinical severity of COVID-19, with some located in genes involved in interferon response to viral infection. A DNA methylation signature (EPICOVID) was established and could be useful in the clinical management of SARS-CoV-2 infected patients when combined with other factors.
Article
Oncology
Jochen Kruppa, Miriam Sieg, Gesa Richter, Anne Pohrt
Summary: In DNA methylation analysis, M-values can be used for statistical analysis while Beta-values are more suitable for reporting, though correction may be needed when confounder effects are present. Different frameworks for reporting estimands in DNA methylation analysis are proposed, with careful evaluation needed for hyper- or hypomethylated CpG sites.
CLINICAL EPIGENETICS
(2021)
Article
Endocrinology & Metabolism
Mickael Canouil, Amna Khamis, Elina Keikkala, Sandra Hummel, Stephane Lobbens, Amelie Bonnefond, Fabien Delahaye, Evangelia Tzala, Sanna Mustaniemi, Marja Vaarasmaki, Marjo-Riitta Jarvelin, Sylvain Sebert, Eero Kajantie, Philippe Froguel, Toby Andrew
Summary: This study did not find shared epigenetic effects between mothers and offspring from GDM exposure. However, a significant CpG at the cg22790973 probe (TFCP2) associated with GDM was identified, along with seven additional FDR-significant interactions of maternal methylation and GDM status, suggesting a potential complexity in the epigenetic transmission from mothers with GDM to their offspring.
Article
Nutrition & Dietetics
Elizabeth Walker-Short, Teresa Buckner, Timothy Vigers, Patrick Carry, Lauren A. Vanderlinden, Fran Dong, Randi K. Johnson, Ivana V. Yang, Katerina Kechris, Marian Rewers, Jill M. Norris
Summary: This study examined the relationship between infant diet and DNA methylation in infancy and childhood. The results suggested that infant diet was associated with methylation differences in certain genes, some of which were present at birth while others only appeared in infancy. The study also indicated that factors other than diet may also influence DNA methylation outcomes.
Article
Medicine, General & Internal
Eva L. van der Linden, Karlijn A. C. Meeks, Felix Chilunga, Charles Hayfron-Benjamin, Silver Bahendeka, Kerstin Klipstein-Grobusch, Andrea Venema, Bert -Jan van den Born, Charles Agyemang, Peter Henneman, Adebowale Adeyemo
Summary: This study aimed to identify DNA methylation sites associated with plasma lipid concentration in Ghanaians. Using Illumina 450k DNA methylation array, one significantly associated DNA methylation site with triglycerides was identified and replicated in other ethnic groups. These findings provide insights into the epigenetic regulation of lipid metabolism in West-African populations.
Article
Multidisciplinary Sciences
Hye Youn Sung, Sangjun Lee, Miyeun Han, Woo Ju An, Hyunjin Ryu, Eunjeong Kang, Yong Seek Park, Seung Eun Lee, Curie Ahn, Kook-Hwan Oh, Sue K. Park, Jung-Hyuck Ahn
Summary: An epigenome-wide association study was conducted on diabetic chronic kidney disease patients in Korea to identify epigenetic markers associated with disease progression. Two epigenetic markers were found to potentially be associated with the progression of diabetic CKD in Koreans.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Penglong Wang, Christina A. Castellani, Jie Yao, Tianxiao Huan, Lawrence F. Bielak, Wei Zhao, Jeffrey Haessler, Roby Joehanes, Xianbang Sun, Xiuqing Guo, Ryan J. Longchamps, JoAnn E. Manson, Megan L. Grove, Jan Bressler, Kent D. Taylor, Tuuli Lappalainen, Silva Kasela, David J. Van den Berg, Lifang Hou, Alexander Reiner, Yongmei Liu, Eric Boerwinkle, Jennifer A. Smith, Patricia A. Peyser, Myriam Fornage, Stephen S. Rich, Jerome Rotter, Charles Kooperberg, Dan E. Arking, Daniel Levy, Chunyu Liu
Summary: The study revealed an association between mtDNA copy number in whole blood and DNA methylation levels in genes involved in a wide range of mitochondrial activities, shedding light on the molecular mechanisms underlying the relationship between mtDNA copy number and cardiovascular disease.
HUMAN MOLECULAR GENETICS
(2022)
Article
Multidisciplinary Sciences
Zhaozhong Zhu, Yijun Li, Robert J. Freishtat, Juan C. Celedon, Janice A. Espinola, Brennan Harmon, Andrea Hahn, Carlos A. Camargo, Liming Liang, Kohei Hasegawa
Summary: This study investigates the role of DNA methylation in the severity of bronchiolitis in infants. The authors analyze blood DNA methylation data from hospitalized infants and identify differentially methylated CpGs associated with disease severity. These CpGs are found to be differentially methylated in blood immune cells and enriched in various tissues, cells, and pathways. Additionally, they are also associated with respiratory and immune traits. The study highlights the importance of DNA methylation in understanding the pathobiology of bronchiolitis and its severity.
NATURE COMMUNICATIONS
(2023)
Article
Multidisciplinary Sciences
Margaret A. Wild, Kyle R. Taylor, Eric E. Nilsson, Daniel Beck, Michael K. Skinner
Summary: The study found that TAHD is associated with epigenetic changes in elk, with infected elk showing systemic epigenetic alterations related to the disease. Despite TAHD pathology usually being limited to the feet, the disease may have impacts on the overall health of elk.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Hao Peng, Helena Palma-Gudiel, Carolina Soriano-Tarraga, Jordi Jimenez-Conde, Mingzhi Zhang, Yonghong Zhang, Jinying Zhao
Summary: Altered DNA methylation of TRIM6, FLRT2, SOX1, SOX17, AGBL4, and FAM84A genes (increased) and TLN2 gene (decreased) were found to be associated with ischemic stroke in Chinese populations. Experimental evidence suggests these genes may be involved in endothelial cell adhesion and atherosclerosis.
CLINICAL EPIGENETICS
(2023)
Article
Genetics & Heredity
K. Alaine Broadaway, Xianyong Yin, Alice Williamson, Victoria A. Parsons, Emma P. Wilson, Anne H. Moxley, Swarooparani Vadlamudi, Arushi Varshney, Anne U. Jackson, Vasudha Ahuja, Stefan R. Bornstein, Laura J. Corbin, Graciela E. Delgado, Om P. Dwivedi, Lilian Fernandes Silva, Timothy M. Frayling, Harald Grallert, Stefan Gustafsson, Liisa Hakaste, Ulf Hammar, Christian Herder, Sandra Herrmann, Kurt Hojlund, David A. Hughes, Marcus E. Kleber, Cecilia M. Lindgren, Ching-Ti Liu, Jian'an Luan, Anni Malmberg, Angela P. Moissl, Andrew P. Morris, Nikolaos Perakakis, Annette Peters, John R. Petrie, Michael Roden, Peter E. H. Schwarz, Sapna Sharma, Angela Silveira, Rona J. Strawbridge, Tiinamaija Tuomi, Andrew R. Wood, Peitao Wu, Bjorn Zethelius, Damiano Baldassarre, Johan G. Eriksson, Tove Fall, Jose C. Florez, Andreas Fritsche, Bruna Gigante, Anders Hamsten, Eero Kajantie, Markku Laakso, Jari Lahti, Deborah A. Lawlor, Lars Lind, Winfried Maerz, James B. Meigs, Johan Sundstrom, Nicholas J. Timpson, Robert Wagner, Mark Walker, Nicholas J. Wareham, Hugh Watkins, Ines Barroso, Stephen O'Rahilly, Niels Grarup, Stephen CJ. Parker, Michael Boehnke, Claudia Langenberg, Eleanor Wheeler, Karen L. Mohlke
Summary: Insufficient insulin secretion and increased proinsulin levels indicate beta-cell stress and insulin resistance. A meta-analysis of European-ancestry individuals identified 36 independent signals at 30 loci associated with fasting proinsulin. These loci are involved in various mechanisms that affect insulin processing and beta-cell function. Colocalization analysis provided potential candidate genes and regulatory mechanisms for proinsulin production and glucose regulation. This study highlights the importance of genetic studies for understanding disease predisposition.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Fang Chen, Xingyan Wang, Seon-Kyeong Jang, Bryan C. Quach, J. Dylan Weissenkampen, Chachrit Khunsriraksakul, Lina Yang, Renan Sauteraud, Christine M. Albert, Nicholette D. D. Allred, Donna K. Arnett, Allison E. Ashley-Koch, Kathleen C. Barnes, R. Graham Barr, Diane M. Becker, Lawrence F. Bielak, Joshua C. Bis, John Blangero, Meher Preethi Boorgula, Daniel Chasman, Sameer Chavan, Yii-Der Chen, Lee-Ming Chuang, Adolfo Correa, Joanne E. Curran, Sean P. David, Lisa de Las Fuentes, Ranjan Deka, Ravindranath Duggirala, Jessica D. Faul, Melanie E. Garrett, Sina A. Gharib, Xiuqing Guo, Michael E. Hall, Nicola L. Hawley, Jiang He, Brian D. Hobbs, John E. Hokanson, Chao A. Hsiung, Shih-Jen Hwang, Thomas M. Hyde, Marguerite R. Irvin, Andrew E. Jaffe, Eric O. Johnson, Robert Kaplan, Sharon L. R. Kardia, Joel D. Kaufman, Tanika N. Kelly, Joel E. Kleinman, Charles Kooperberg, I-Te Lee, Daniel Levy, Sharon M. Lutz, Ani W. Manichaikul, Lisa W. Martin, Olivia Marx, Stephen T. McGarvey, Ryan L. Minster, Matthew Moll, Karine A. Moussa, Take Naseri, Kari E. North, Elizabeth C. Oelsner, Juan M. Peralta, Patricia A. Peyser, Bruce M. Psaty, Nicholas Rafaels, Laura M. Raffield, Muagututi'a Sefuiva Reupena, Stephen S. Rich, Jerome Rotter, David A. Schwartz, Aladdin H. Shadyab, Wayne H-H Sheu, Mario Sims, Jennifer A. Smith, Xiao Sun, Kent D. Taylor, Marilyn J. Telen, Harold Watson, Daniel E. Weeks, David R. Weir, Lisa R. Yanek, Kendra A. Young, Kristin L. Young, Wei Zhao, Dana B. Hancock, Bibo Jiang, Scott Vrieze, Dajiang J. Liu
Summary: Most TWASs conducted so far have focused on European ancestry and lacked diversity. To address this limitation, researchers aggregated GWAS summary statistics, whole-genome sequences, and eQTL data from diverse ancestries. They developed a new approach called TESLA, which integrates eQTL datasets with multi-ancestry GWAS, improving power and identifying more genes associated with tobacco use phenotypes compared to alternative TWAS methods. The study also suggests potential drug repurposing options for treating nicotine addiction.
Article
Multidisciplinary Sciences
Katherine A. Kentistou, Jian'an Luan, Laura B. L. Wittemans, Catherine Hambly, Lucija Klaric, Zoltan Kutalik, John R. Speakman, Nicholas J. Wareham, Timothy J. Kendall, Claudia Langenberg, James F. Wilson, Peter K. Joshi, Nicholas M. Morton
Summary: Our understanding of the genetic contribution to human adiposity is incomplete, as few studies measure adiposity directly. In this study, the authors used whole-body imaging adiposity phenotypes in large biobanks to enhance their ability to discover genes driving human adiposity, and investigated one such gene using a mouse model.
NATURE COMMUNICATIONS
(2023)
Article
Nutrition & Dietetics
Vincent Gao, Michelle T. Long, Shridhar R. Singh, Youjin Kim, Xuehong Zhang, Gail Rogers, Paul F. Jacques, Daniel Levy, Jiantao Ma
Summary: This study analyzed the relationship between diet quality and hepatic fibrosis in two different population samples. The results showed that higher diet quality was associated with lower risk of liver fibrosis. The findings suggest that a healthy diet may reduce the likelihood of obesity and hepatic steatosis, as well as the progression of steatosis to fibrosis.
JOURNAL OF NUTRITION
(2023)
Article
Biochemistry & Molecular Biology
Jordi Merino, Hassan S. Dashti, Douglas E. Levy, Magdalena Del Rocio Sevilla-Gonzalez, Marie-France Hivert, Bianca C. Porneala, Richa Saxena, Anne N. Thorndike
Summary: This study investigates the impact of genetic variants on macronutrient preference and long-term food choices. The results show that an increase in the polygenic score for carbohydrate preference is associated with more monthly food purchases and a higher number of purchases with green-labeled food. However, there is no evidence of associations between fat and protein polygenic scores and food purchases.
MOLECULAR PSYCHIATRY
(2023)
Article
Multidisciplinary Sciences
Yu Xu, Scott C. Ritchie, Yujian Liang, Paul R. H. J. Timmers, Maik Pietzner, Loïc Lannelongue, Samuel A. Lambert, Usman A. Tahir, Sebastian May-Wilson, Carles Foguet, Asa Johansson, Praveen Surendran, Artika P. Nath, Elodie Persyn, James E. Peters, Clare Oliver-Williams, Shuliang Deng, Bram Prins, Jian'an Luan, Lorenzo Bomba, Nicole Soranzo, Emanuele Di Angelantonio, Nicola Pirastu, E. Shyong Tai, Rob M. van Dam, Helen Parkinson, Emma E. Davenport, Dirk S. Paul, Christopher Yau, Robert E. Gerszten, Anders Maelarstig, John Danesh, Xueling Sim, Claudia Langenberg, James F. Wilson, Adam S. Butterworth, Michael Inouye
Summary: This study investigates the use of omic modalities in dissecting the molecular underpinnings of common diseases and traits. It examines a large cohort with extensive multi-omic data and uses machine learning to train genetic scores for various molecular traits. The study evaluates the performance of these genetic scores through external validation across different ancestral cohorts and highlights key biological insights related to metabolism and disease pathways. A web portal is also developed to provide public access to the genetic scores and validation results.
Article
Clinical Neurology
Eliza Miller, Anni E. Kauko, Sarah Tom, Hannele Laivuori, Teemu A. Niiranen, Natalie Bello
Summary: The study found that adverse pregnancy outcomes are associated with an earlier onset of maternal cerebrovascular disease, especially in cases where women had more than one affected pregnancy.
Article
Multidisciplinary Sciences
Hanna M. Ollila, Eilon Sharon, Ling Lin, Nasa Sinnott-Armstrong, Aditya Ambati, Selina M. Yogeshwar, Ryan P. Hillary, Otto Jolanki, Juliette Faraco, Mali Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, Jun Zhang, Seung-Chul Hong, Tae Won Kim, Yves Dauvilliers, Lucie Barateau, Gert Jan Lammers, Rolf Fronczek, Geert Mayer, Joan Santamaria, Isabelle Arnulf, Stine Knudsen-Heier, May Kristin Lyamouri Bredahl, Per Medboe Thorsby, Giuseppe Plazzi, Fabio Pizza, Monica Moresco, Catherine Crowe, Stephen K. Van den Eeden, Michel Lecendreux, Patrice Bourgin, Takashi Kanbayashi, Francisco J. Martinez-Orozco, Rosa Peraita-Adrados, Antonio Beneto, Jacques Montplaisir, Alex Desautels, Yu-Shu Huang, Poul Jennum FinnGen, Poul Jennum, Sona Nevsimalova, David Kemlink, Alex Iranzo, Sebastiaan Overeem, Aleksandra Wierzbicka, Peter Geisler, Karel Sonka, Makoto Honda, Birgit Hoegl, Ambra Stefani, Fernando Morgadinho Coelho, Vilma Mantovani, Eva Feketeova, Mia Wadelius, Niclas Eriksson, Hans Smedje, Par Hallberg, Per Egil Hesla, David Rye, Zerrin Pelin, Luigi Ferini-Strambi, Claudio L. Bassetti, Johannes Mathis, Ramin Khatami, Adi Aran, Sheela Nampoothiri, Tomas Olsson, Ingrid Kockum, Markku Partinen, Markus Perola, Birgitte R. Kornum, Sina Rueger, Juliane Winkelmann, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Mihoko Shimada, Katsushi Tokunaga, Manuel Rivas, Jonathan K. Pritchard, Neil Risch, Zoltan Kutalik, Ruth O'Hara, Joachim Hallmayer, Chun Jimmie Ye, Emmanuel J. Mignot
Summary: The authors identified genetic loci for narcolepsy and suggested infection and immune cell involvement as triggers. They also found that narcolepsy type 1 is caused by a loss of hypocretin/orexin transmission. In addition, the study revealed risk factors related to H1N1 influenza A infection and immunization with Pandemrix (R) vaccine.
NATURE COMMUNICATIONS
(2023)
Article
Psychology, Biological
Iain Mathieson, Felix R. Day, Nicola Barban, Felix C. Tropf, David M. Brazel, Ahmad Vaez, Natalie van Zuydam, Barbara D. Bitarello, Eugene J. Gardner, Evelina T. Akimova, Ajuna Azad, Sven Bergmann, Lawrence F. Bielak, Dorret Boomsma, Kristina Bosak, Marco Brumat, Julie E. Buring, David Cesarini, Daniel Chasman, Jorge E. Chavarro, Massimiliano Cocca, Maria Pina Concas, George Davey Smith, Gail Davies, Ian J. Deary, Tonu Esko, Jessica D. Faul, Oscar Franco, Andrea Ganna, Audrey J. Gaskins, Andrea Gelemanovic, Eco J. C. de Geus, Christian Gieger, Giorgia Girotto, Bamini Gopinath, Hans Joergen Grabe, Erica P. Gunderson, Caroline Hayward, Chunyan He, Diana van Heemst, W. David Hill, Eva R. Hoffmann, Georg Homuth, Jouke Jan Hottenga, Hongyang Huang, Elina Hyppoenen, M. Arfan Ikram, Rick Jansen, Magnus Johannesson, Zoha Kamali, Sharon L. R. Kardia, Maryam Kavousi, Annette Kifley, Tuomo Kiiskinen, Peter Kraft, Brigitte Kuehnel, Claudia Langenberg, Gerald Liew, Penelope A. Lind, Jian'an Luan, Reedik Magi, Patrik K. E. Magnusson, Anubha Mahajan, Nicholas G. Martin, Hamdi Mbarek, Mark McCarthy, George McMahon, Sarah E. Medland, Thomas Meitinger, Andres Metspalu, Evelin Mihailov, Lili Milani, Stacey A. Missmer, Paul Mitchell, Stine Mollegaard, Dennis O. Mook-Kanamori, Anna Morgan, Peter van der Most, Renee de Mutsert, Matthias Nauck, Ilja M. Nolte, Raymond Noordam, Brenda W. J. H. Penninx, Annette Peters, Patricia A. Peyser, Ozren Polasek, Chris Power, Ajka Pribisalic, Paul Redmond, Janet W. Rich-Edwards, Paul M. Ridker, Cornelius A. Rietveld, Susan M. Ring, Lynda M. Rose, Rico Rueedi, Vallari Shukla, Jennifer A. Smith, Stasa Stankovic, Kari Stefansson, Doris Stoeckl, Konstantin Strauch, Morris A. Swertz, Alexander Teumer, Gudmar Thorleifsson, Unnur Thorsteinsdottir, A. Roy Thurik, Nicholas J. Timpson, Constance Turman, Andre G. Uitterlinden, Melanie Waldenberger, Nicholas J. Wareham, David R. Weir, Gonneke Willemsen, Jing Hau Zhao, Wei Zhao, Yajie Zhao, Harold Snieder, Marcel den Hoed, Ken K. Ong, Melinda C. Mills, John R. B. Perry
Summary: Identifying genetic determinants of reproductive success can reveal the mechanisms underlying fertility and identify genes that are currently under natural selection. A genome-wide association study on individuals of European ancestry identified 43 genomic loci associated with the number of children ever born or childlessness. These loci are involved in various aspects of reproductive biology, such as puberty timing, age at first birth, sex hormone regulation, endometriosis, and age at menopause. Additionally, missense variants in ARHGAP27 were found to be associated with higher number of children ever born but shorter reproductive lifespan, suggesting a trade-off at this locus. Other genes, including PIK3IP1, ZFP82, and LRP4, were also implicated by coding variants, and a new role for the melanocortin 1 receptor (MC1R) in reproductive biology was suggested. Furthermore, integration with data from historical selection scans revealed an allele in the FADS1/2 gene locus that has been undergoing selection for thousands of years. These findings highlight the diverse biological mechanisms contributing to reproductive success.
NATURE HUMAN BEHAVIOUR
(2023)
Article
Endocrinology & Metabolism
Mine Koprulu, Julia Carrasco-Zanini, Eleanor Wheeler, Sam Lockhart, Nicola D. Kerrison, Nicholas J. Wareham, Maik Pietzner, Claudia Langenberg
Summary: Studying the plasma proteome can help identify new disease processes. In this study, a cis-focused proteogenomic analysis was conducted on plasma proteins from 1,180 individuals, revealing unreported protein quantitative trait loci (pQTL). Shared genetic regulation between pQTLs and health outcomes, improved gene assignment at risk loci, and convergence of phenotypic consequences and gene burden were observed. These findings highlight the value of integrating proteomic and genomic data to identify mediators of metabolic diseases.
Article
Endocrinology & Metabolism
Jia Zhu, Anders U. Eliasen, Izzuddin M. Aris, Sara E. Stinson, Jens-Christian Holm, Torben Hansen, Marie-France Hivert, Klaus Bonnelykke, Rany M. Salem, Joel N. Hirschhorn, Yee-Ming Chan
Summary: Genetic risk factors for PCOS are associated with alterations in metabolic, growth, and developmental traits in childhood.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Cardiac & Cardiovascular Systems
Farid Foroutan, Daniel G. Rayner, Heather J. Ross, Tamara Ehler, Ananya Srivastava, Sheojung Shin, Abdullah Malik, Harsukh Benipal, Clarissa Yu, Tsz Hin Alexander Lau, Joshua G. Lee, Rodolfo Rocha, Peter C. Austin, Daniel Levy, Jennifer E. Ho, John J. V. McMurray, Faiez Zannad, George Tomlinson, John A. Spertus, Douglas S. Lee
Summary: This study summarizes the 30-day and 1-year readmission and mortality rates of hospitalized heart failure patients globally, revealing significant international variations in these outcomes.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Immunology
Jing Hua Zhao, David Stacey, Niclas Eriksson, Erin Macdonald-Dunlop, Asa K. Hedman, Anette Kalnapenkis, Stefan Enroth, Domenico Cozzetto, Jonathan Digby-Bell, Jonathan Marten, Lasse Folkersen, Christian Herder, Lina Jonsson, Sarah E. Bergen, Christian Gieger, Elise J. Needham, Praveen Surendran, Andres Metspalu, Lili Milani, Reedik Magi, Mari Nelis, Georgi Hudjasov, Dirk S. Paul, Ozren Polasek, Barbara Thorand, Harald Grallert, Michael Roden, Urmo Vosa, Tonu Esko, Caroline Hayward, Asa Johansson, Ulf Gyllensten, Nick Powell, Oskar Hansson, Niklas Mattsson-Carlgren, Peter K. Joshi, John Danesh, Leonid Padyukov, Lars Klareskog, Mikael Landen, James F. Wilson, Agneta Siegbahn, Lars Wallentin, Anders Malarstig, Adam S. Butterworth, James E. Peters
Summary: In this study, the authors conducted a genome-wide protein quantitative trait locus (pQTL) study to identify genetic influences on inflammation-related plasma proteins. They found 180 pQTLs and integrated the data with eQTL and disease genome-wide association studies to gain insight into pathogenesis and identified lymphotoxin-alpha in multiple sclerosis. Mendelian randomization (MR) analysis revealed shared and distinct effects of specific proteins across immune-mediated diseases, including CD40's contradictory effects on rheumatoid arthritis and multiple sclerosis. MR also implicated CXCL5 in the etiology of ulcerative colitis.
Article
Cardiac & Cardiovascular Systems
Mariana F. Ramirez, Michael Honigberg, Dongyu Wang, Juhi K. Parekh, Kamila Bielawski, Paul Courchesne, Martin D. Larson, Daniel Levy, Joanne M. Murabito, Jennifer E. Ho, Emily S. Lau
Summary: Premature and early menopause are associated with increased risk of cardiovascular disease (CVD). This study found that early menopause is associated with specific biomarkers related to CVD and modifies the association between certain biomarkers and cardiovascular outcomes. The identified biomarkers reflect various biological pathways including inflammation, adiposity, and neurohormonal regulation.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Medical Informatics
Valerie Kuan, Spiros Denaxas, Praveetha Patalay, Dorothea Nitsch, Rohini Mathur, Arturo Gonzalez-Izquierdo, Reecha Sofat, Linda Partridge, Amanda Roberts, Ian C. K. Wong, Melanie Hingorani, Nishi Chaturvedi, Harry Hemingway, Aroon Hingorani, MMTRC
Summary: This study provides important data on multimorbidity and comorbidity in diverse populations, highlighting non-random disease associations and patterns. It offers valuable resources for patients, clinicians, researchers, and policymakers to improve prevention, detection, and management of comorbid conditions. The findings also have implications for biomedical research and the development of clinical trials.
LANCET DIGITAL HEALTH
(2023)
