Article
Multidisciplinary Sciences
Wei-Yu Lin, Sarah E. Fordham, Nicola Sunter, Claire Elstob, Thahira Rahman, Elaine Willmore, Colin Shepherd, Gordon Strathdee, Tryfonia Mainou-Fowler, Rachel Piddock, Hannah Mearns, Timothy Barrow, Richard S. Houlston, Helen Marr, Jonathan Wallis, Geoffrey Summerfield, Scott Marshall, Andrew Pettitt, Christopher Pepper, Christopher Fegan, Francesco Forconi, Martin J. S. Dyer, Sandrine Jayne, April Sellors, Anna Schuh, Pauline Robbe, David Oscier, James Bailey, Syed Rais, Alison Bentley, Lynn Cawkwell, Paul Evans, Peter Hillmen, Guy Pratt, David J. Allsup, James M. Allan
Summary: Prognostication in CLL patients is challenging due to its heterogeneous clinical course. This study identifies two genomic locations associated with disease progression, highlighting the impact of constitutional genetic variation on CLL prognosis. Additionally, functional genes implicated in modulating key pathways in CLL pathogenesis are identified.
NATURE COMMUNICATIONS
(2021)
Article
Obstetrics & Gynecology
Renee M. G. Verdiesen, Yvonne T. van der Schouw, Carla H. van Gils, W. M. Monique Verschuren, Frank J. M. Broekmans, Maria C. Borges, Ana L. Goncalves Soares, Deborah A. Lawlor, A. Heather Eliassen, Peter Kraft, Dale P. Sandler, Sioban D. Harlow, Jennifer A. Smith, Nanette Santoro, Minouk J. Schoemaker, Anthony J. Swerdlow, Anna Murray, Katherine S. Ruth, N. Charlotte Onland-Moret
Summary: This study identified four loci associated with circulating anti-Müllerian hormone levels in premenopausal women through a large-scale genome-wide association study meta-analysis. The findings contribute to the understanding of the biology of anti-Müllerian hormone and its role in ovarian aging.
HUMAN REPRODUCTION
(2022)
Article
Biochemistry & Molecular Biology
Tarunveer S. Ahluwalia, Bram P. Prins, Mohammadreza Abdollahi, Nicola J. Armstrong, Stella Aslibekyan, Lisa Bain, Barbara Jefferis, Jens Baumert, Marian Beekman, Yoav Ben-Shlomo, Joshua C. Bis, Braxton D. Mitchell, Eco de Geus, Graciela E. Delgado, Diana Marek, Joel Eriksson, Eero Kajantie, Stavroula Kanoni, John P. Kemp, Chen Lu, Riccardo E. Marioni, Stela McLachlan, Yuri Milaneschi, Ilja M. Nolte, Alexandros M. Petrelis, Eleonora Porcu, Maria Sabater-Lleal, Elnaz Naderi, Ilkka Seppala, Tina Shah, Gaurav Singhal, Marie Standl, Alexander Teumer, Anbupalam Thalamuthu, Elisabeth Thiering, Stella Trompet, Christie M. Ballantyne, Emelia J. Benjamin, Juan P. Casas, Catherine Toben, George Dedoussis, Joris Deelen, Peter Durda, Jorgen Engmann, Mary F. Feitosa, Harald Grallert, Ann Hammarstedt, Sarah E. Harris, Georg Homuth, Jouke-Jan Hottenga, Sirpa Jalkanen, Yalda Jamshidi, Magdalene C. Jawahar, Tine Jess, Mika Kivimaki, Marcus E. Kleber, Jari Lahti, Yongmei Liu, Pedro Marques-Vidal, Dan Mellstrom, Simon P. Mooijaart, Martina Muller-Nurasyid, Brenda Penninx, Joana A. Revez, Peter Rossing, Katri Raikkonen, Naveed Sattar, Hubert Scharnagl, Bengt Sennblad, Angela Silveira, Beate St Pourcain, Nicholas J. Timpson, Julian Trollor, Jenny van Dongen, Diana Van Heemst, Sophie Visvikis-Siest, Peter Vollenweider, Uwe Volker, Melanie Waldenberger, Gonneke Willemsen, Delilah Zabaneh, Richard W. Morris, Donna K. Arnett, Bernhard T. Baune, Dorret Boomsma, Yen-Pei C. Chang, Ian J. Deary, Panos Deloukas, Johan G. Eriksson, David M. Evans, Manuel A. Ferreira, Tom Gaunt, Vilmundur Gudnason, Anders Hamsten, Joachim Heinrich, Aroon Hingorani, Steve E. Humphries, J. Wouter Jukema, Wolfgang Koenig, Meena Kumari, Zoltan Kutalik, Deborah A. Lawlor, Terho Lehtimaki, Winfried Marz, Karen A. Mather, Silvia Naitza, Matthias Nauck, Claes Ohlsson, Jackie F. Price, Olli Raitakari, Ken Rice, Perminder S. Sachdev, Eline Slagboom, Thorkild I. A. Sorensen, Tim Spector, David Stacey, Maria G. Stathopoulou, Toshiko Tanaka, S. Goya Wannamethee, Peter Whincup, Jerome Rotter, Abbas Dehghan, Eric Boerwinkle, Bruce M. Psaty, Harold Snieder, Behrooz Z. Alizadeh
Summary: This study identified novel genetic loci influencing circulating IL-6 levels, uncovering new immunological and inflammatory pathways that may impact the pathobiology of IL-6.
HUMAN MOLECULAR GENETICS
(2021)
Article
Multidisciplinary Sciences
Laura J. Smyth, Emma H. Dahlstrom, Anna Syreeni, Katie Kerr, Jill Kilner, Ross Doyle, Eoin Brennan, Viji Nair, Damian Fermin, Robert G. Nelson, Helen C. Looker, Christopher Wooster, Darrell Andrews, Kerry Anderson, Gareth J. McKay, Joanne B. Cole, Rany M. Salem, Peter J. Conlon, Matthias Kretzler, Joel N. Hirschhorn, Denise Sadlier, Catherine Godson, Jose C. Florez, Carol Forsblom, Alexander P. Maxwell, Per-Henrik Groop, Niina Sandholm, Amy Jayne McKnight
Summary: This study investigated DNA methylation in 1304 individuals with type 1 diabetes and identified differentially methylated CpG sites associated with diabetic kidney disease. The methylation at 21 of these sites was found to predict the development of kidney failure.
NATURE COMMUNICATIONS
(2022)
Article
Biology
Chloe Sarnowski, Mohsen Ghanbari, Joshua C. Bis, Mark Logue, Myriam Fornage, Aniket Mishra, Shahzad Ahmad, Alexa S. Beiser, Eric Boerwinkle, Vincent Bouteloup, Vincent Chouraki, L. Adrienne Cupples, Vincent Damotte, Charles S. DeCarli, Anita L. DeStefano, Luc Djousse, Alison E. Fohner, Carol E. Franz, Tiffany F. Kautz, Jean-Charles Lambert, Michael J. Lyons, Thomas H. Mosley, Kenneth J. Mukamal, Matthew P. Pase, Eliana C. Portilla Fernandez, Robert A. Rissman, Claudia L. Satizabal, Ramachandran S. Vasan, Amber Yaqub, Stephanie Debette, Carole Dufouil, Lenore J. Launer, William S. Kremen, William T. Longstreth, M. Arfan Ikram, Sudha Seshadri
Summary: A meta-analysis identified genetic loci associated with circulating total-tau levels specific to European or African American ancestries, providing insight into the genetic basis of neurological diseases. Novel loci were identified for each ancestry, and rare variants in ten genes were associated with circulating total-tau in Europeans. The study also revealed genes associated with neurological diseases and highlighted potential differences in the genetic architecture of tau levels based on ancestry.
COMMUNICATIONS BIOLOGY
(2022)
Article
Plant Sciences
Hui Xia, Ziyuan Hao, Yufang Shen, Zhonghua Tu, Lichun Yang, Yaxian Zong, Huogen Li
Summary: In this study, GWAS analysis identified multiple significant loci associated with growth trajectories in hybrid Liriodendron populations. These loci showed temporal variations in effect sizes and inheritance patterns potentially related to different growth and development stages. The identified loci can be beneficial for selecting superior genotypes and provide a foundation for future molecular-assisted breeding.
Article
Multidisciplinary Sciences
Garan Jones, Katerina Trajanoska, Adam J. Santanasto, Najada Stringa, Chia-Ling Kuo, Janice L. Atkins, Joshua R. Lewis, ThuyVy Duong, Shengjun Hong, Mary L. Biggs, Jian'an Luan, Chloe Sarnowski, Kathryn L. Lunetta, Toshiko Tanaka, Mary K. Wojczynski, Ryan Cvejkus, Maria Nethander, Sahar Ghasemi, Jingyun Yang, M. Carola Zillikens, Stefan Walter, Kamil Sicinski, Erika Kague, Cheryl L. Ackert-Bicknell, Dan E. Arking, B. Gwen Windham, Eric Boerwinkle, Megan L. Grove, Misa Graff, Dominik Spira, Ilja Demuth, Nathalie van der Velde, Lisette C. P. G. M. de Groot, Bruce M. Psaty, Michelle C. Odden, Alison E. Fohner, Claudia Langenberg, Nicholas J. Wareham, Stefania Bandinelli, Natasja M. van Schoor, Martijn Huisman, Qihua Tan, Joseph Zmuda, Dan Mellstrom, Magnus Karlsson, David A. Bennett, Aron S. Buchman, Philip L. De Jager, Andre G. Uitterlinden, Uwe Voelker, Thomas Kocher, Alexander Teumer, Leocadio Rodriguez-Manas, Francisco J. Garcia, Jose A. Carnicero, Pamela Herd, Lars Bertram, Claes Ohlsson, Joanne M. Murabito, David Melzer, George A. Kuchel, Luigi Ferrucci, David Karasik, Fernando Rivadeneira, Douglas P. Kiel, Luke C. Pilling
Summary: Low muscle strength is a heritable indicator of poor health in older people, with genetic loci associated with muscle weakness identified through genome-wide meta-analysis. Possible causal relationships with diabetes susceptibility, hematological parameters, and the immune system were also discovered using Mendelian randomization. The distinct mechanisms of muscle weakness from continuous strength were highlighted, shedding light on potential pathways involved in ageing.
NATURE COMMUNICATIONS
(2021)
Article
Biochemical Research Methods
Chong Wu, Jonathan Bradley, Yanming Li, Lang Wu, Hong-Wen Deng
Summary: The study developed a novel gene-level association testing method that integrates genetically regulated DNA methylation and enhancer-target gene pairs; through simulations, it showed well controlled type I error rates and achieved higher statistical power than competing methods; the CMO method identified more novel genetic loci for AD compared to existing TWAS methods when analyzing GWAS results.
Article
Allergy
Kyung Won Kim, Dong Yun Kim, Dankyu Yoon, Ka-Kyung Kim, Haerin Jang, Nathan Schoettler, Eun Gyul Kim, Mi Na Kim, Jung Yeon Hong, Jeom-Kyu Lee, Sangwoo Kim, Carole Ober, Heon Yung Gee, Myung Hyun Sohn
Summary: This study identified a new susceptibility gene, TNFSF15, and replicated associations at the 17q12-21 locus for childhood-onset asthma in Korean children with persistent asthma. The novel association may be mediated by reduced expression of serum TNFSF15 and loss of suppression of angiogenesis.
Review
Endocrinology & Metabolism
Lin Zhou, Kang Song, Wei Luo
Summary: This study aimed to evaluate the association between resistin levels and thyroid dysfunction and explore the variations in resistin levels before and after treatment. The results confirmed that resistin levels were significantly higher in patients with thyroid dysfunction compared to euthyroid controls. After treatment, resistin levels decreased significantly in patients with thyroid dysfunction.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Kathryn Recto, Priyadarshini Kachroo, Tianxiao Huan, David Van Den Berg, Gha Young Lee, Helena Bui, Dong Heon Lee, Jessica Gereige, Chen Yao, Shih-Jen Hwang, Roby Joehanes, George T. O'Cornor, Daniel Levy, Dawn L. DeMeo
Summary: By integrating eQTM and MR analyses in general and clinical asthma populations, our findings provide a deeper understanding of the multidimensional inter-relations of DNA methylation, gene expression, and IgE levels. We identified differentially methylated CpGs associated with IgE levels and replicated them in other populations. We also identified biological pathways related to IgE regulation and proposed CTSB and USP20 as potential therapeutic targets for IgE levels.
Article
Biology
Eugene P. Rhee, Aditya L. Surapaneni, Pascal Schlosser, Mona Alotaibi, Yueh-ning Yang, Josef Coresh, Mohit Jain, Susan Cheng, Bing Yu, Morgan E. Grams
Summary: A genome-wide association study involving 8406 participants from the Atherosclerosis Risk in Communities (ARIC) Study identifies 41 loci associated with 92 eicosanoids and related metabolites. The study sheds light on various aspects of eicosanoid metabolism, including biosynthesis and clearance mechanisms, as well as their associations with medication use. These findings have implications for understanding human disease and potential therapeutic interventions.
COMMUNICATIONS BIOLOGY
(2023)
Article
Immunology
Kathryn A. A. Recto, Tianxiao Huan, Dong Heon Lee, Gha Young Lee, Jessica Gereige, Chen Yao, Shih-Jen Hwang, Roby Joehanes, Rachel S. S. Kelly, Jessica Lasky-Su, George O'Connor, Daniel Levy
Summary: Measurement of circulating immunoglobulin E (IgE) concentration is helpful for diagnosing and treating asthma and allergic diseases. Identifying gene expression signatures associated with IgE might elucidate novel pathways for IgE regulation. Our findings build upon prior knowledge of IgE regulation and provide a deeper understanding of underlying molecular mechanisms, offering promising therapeutic targets for asthma and IgE-related diseases.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Genetics & Heredity
Ammarah Ghaffar, Dale R. Nyholt
Summary: We developed a method named GIDEE to prioritize trait-relevant tissues by combining GWAS summary statistic data with tissue-specific eQTL data. The best-performing GIDEE method ranked the known trait-relevant tissue first multiple times across nine training datasets. Application of the GIDEE approach to test datasets provided important prioritization of tissues relevant to the trait's regulatory architecture.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, Research & Experimental
Tomohito Doke, Shizheng Huang, Chengxiang Qiu, Hongbo Liu, Yuting Guan, Hailong Hu, Ziyuan Ma, Junnan Wu, Zhen Miao, Xin Sheng, Jianfu Zhou, Aili Cao, Jianhua Li, Lewis Kaufman, Adriana Hung, Christopher D. Brown, Richard Pestell, Katalin Susztak
Summary: The study integrated various methods to identify Dachshund homolog 1 (DACH1) as a kidney disease risk gene, revealing its crucial role in regulating the development of renal fibrosis.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Geriatrics & Gerontology
Megan M. Marron, Steven C. Moore, Stacy G. Wendell, Robert M. Boudreau, Iva Miljkovic, Akira Sekikawa, Anne B. Newman
Summary: This study analyzed lipid and lipid-like molecules related to APOE genotypes in 278 Black men aged 70-81, finding significant differences between different genotypes. Among the participants, ε2 carriers showed potential protective metabolic characteristics, while ε4 carriers exhibited alterations in mitochondrial functioning.
Article
Geriatrics & Gerontology
Rebekah Harris, Elsa S. Strotmeyer, Leena Sharma, C. Kent Kwoh, Jennifer S. Brach, Robert Boudreau, Jane A. Cauley
Summary: This study examined how the severity of radiographic knee osteoarthritis (KOA) affects recurrent falls in middle-aged and older individuals. The results showed that older adults with radiographic evidence of KOA had a higher likelihood of experiencing recurrent falls compared to those without KOA, regardless of established risk factors. On the other hand, middle-aged adults with KOA did not have an increased odds of recurrent falls, except for those with possible KOA.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
Mary E. Winger, Paolo Caserotti, Jane A. Cauley, Robert M. Boudreau, Sara R. Piva, Peggy M. Cawthon, Eric S. Orwoll, Kristine E. Ensrud, Deborah M. Kado, Elsa S. Strotmeyer
Summary: This study investigated the application of lower-extremity power and upper-extremity strength in fall injuries and found that lower leg power and grip strength predicted future fall injury risk in older men, independent of physical performance.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
Adam J. Santanasto, Joseph M. Zmuda, Ryan K. Cvejkus, Christopher L. Gordon, Sangeeta Nair, J. Jeffrey Carr, James G. Terry, Victor W. Wheeler, Iva Miljkovic
Summary: This study examined the association between myosteatosis and physical function in African Caribbean men. The results showed that myosteatosis in the calf and thigh was strongly associated with grip strength and performance measures of physical function, while myosteatosis in the abdomen may have some utility when abdominal images are all that are available.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Gerontology
Brittney S. Lange-Maia, Samar R. El Khoudary, Carolyn J. Crandall, Yanyu Zhang, Carrie A. Karvonen-Gutierrez, Kelley Pettee Gabriel, Bradley M. Appelhans, Elsa S. Strotmeyer, Kelly R. Ylitalo, Kelly Karavolos, Howard M. Kravitz, Sheila A. Dugan, Imke Janssen
Summary: The study found that physical function before menopause is associated with cardiovascular disease risk, with women who have substantial limitations having a higher risk compared to those with no limitations.
JOURNAL OF AGING AND HEALTH
(2023)
Article
Endocrinology & Metabolism
Ernesto Maddaloni, Lucia Coraggio, Rocco G. Amendolara, Marco G. Baroni, Maria Cavallo, Massimiliano Copetti, Efisio Cossu, Paola D'Angelo, Luca D'Onofrio, Salvatore De Cosmo, Frida Leonetti, Susanna Morano, Lelio Morviducci, Nicola Napoli, Sabrina Prudente, Giuseppe Pugliese, Kyoungmin R. Park, Rury Holman, Vincenzo Trischitta, Raffaella Buzzetti, UMMER Study Diabet Grp
Summary: This study evaluated the possible associations of osteocalcin, osteoprotegerin, and osteopontin with cardiovascular disease (CVD) and diabetic retinopathy (DR) in type 2 diabetes patients. The findings showed that osteocalcin was associated with CVD, while osteoprotegerin and osteopontin were associated with DR.
DIABETES-METABOLISM RESEARCH AND REVIEWS
(2023)
Article
Geriatrics & Gerontology
Sharon C. Welburn, Erin E. Fanning, Jane A. Cauley, Patrick J. Brown, Elsa S. Strotmeyer, Robert M. Boudreau, Todd M. Bear, Kyle D. Moored, Peggy M. Cawthon, Katie L. Stone, Nancy W. Glynn
Summary: This study found that both physical and mental fatigability are associated with increased fall risk in elderly men, with physical fatigability increasing the risk by 20% and mental fatigability increasing the risk of recurrent falling by 35% and 44% respectively.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
Steven R. Cummings, Anne B. Newman, Paul M. Coen, Russell T. Hepple, Robin Collins, Kimberly Kennedy, Michelle Danielson, Kathy Peters, Terri Blackwell, Eileen Johnson, Theresa Mau, Eric G. Shankland, Li-Yung Lui, Sheena Patel, Dani Young, Nancy W. Glynn, Elsa S. Strotmeyer, Karyn A. Esser, David J. Marcinek, Bret H. Goodpaster, Stephen Kritchevsky, Peggy M. Cawthon
Summary: The SOMMA study aims to understand the biological basis of aging and mobility decline by collecting data, tissues, and images. The multidisciplinary team includes clinical centers, a biorepository, and a coordinating center. Participants are followed with regular exams and various assessments. The study will lay the foundation for discoveries in the biology of human aging and mobility.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Medicine, General & Internal
Amelie Bonnefond, Ranjit Unnikrishnan, Alessandro Doria, Martine Vaxillaire, Rohit N. Kulkarni, Viswanathan Mohan, Vincenzo Trischitta, Philippe Froguel
Summary: Monogenic diabetes encompasses several clinical conditions characterized by early-onset diabetes, including neonatal diabetes, maturity-onset diabetes of the young (MODY) and diabetes-associated syndromes. It can be misdiagnosed as type 2 diabetes, and different genetic variations can lead to different forms of diabetes. Precision medicine approaches and next-generation sequencing have improved diagnosis and treatment options.
NATURE REVIEWS DISEASE PRIMERS
(2023)
Article
Materials Science, Biomaterials
Rosa Di Paola, Antonella Marucci, Davide Mangiacotti, Alessandra Antonucci, Andrea Fontana, Xuan Wang, Lu Qi, Claudia Menzaghi, Vincenzo Trischitta
Summary: Several studies have shown that downregulation of GALNT2 decreases HDL-C and increases triglycerides levels by glycosylating key enzymes of lipid metabolism. GALNT2 is also a positive modulator of insulin signaling and action. The study found that GALNT2 affects HDL-C and triglycerides levels partly through insulin sensitivity.
Editorial Material
Endocrinology & Metabolism
Vincenzo Trischitta, Claudia Menzaghi, Massimiliano Copetti
Article
Rheumatology
Karen Y. Cheng, Elsa S. Strotmeyer, Deborah M. Kado, John T. Schousboe, Simon Schenk, Michael Nevitt, Nancy E. Lane, Jan M. Hughes-Austin
Summary: Metabolic syndrome (MetS) was associated with hip osteoarthritis (OA) in women, while obesity was associated with hip OA in men. These findings suggest different mechanisms of hip OA development in men and women.
ACR OPEN RHEUMATOLOGY
(2023)
Article
Endocrinology & Metabolism
Antonella Marucci, Rosa Di Paola, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Vincenzo Trischitta
ACTA DIABETOLOGICA
(2023)