Article
Public, Environmental & Occupational Health
Woori Kim, Dmitry Prokopenko, Phuwanat Sakornsakolpat, Brian D. Hobbs, Sharon M. Lutz, John E. Hokanson, Louise Wain, Carl A. Melbourne, Nick Shrine, Martin D. Tobin, Edwin K. Silverman, Michael H. Cho, Terri H. Beaty
Summary: An analysis of genetic factors and smoking interactions in COPD risk identified significant loci associated with smoking and specific genes, replicating some findings from previous studies. Interaction effects at known COPD loci were identified, but no novel susceptibility loci were discovered.
AMERICAN JOURNAL OF EPIDEMIOLOGY
(2021)
Article
Plant Sciences
Caroline Ariyoshi, Gustavo Cesar Sant'ana, Mariane Silva Felicio, Gustavo Hiroshi Sera, Livia Maria Nogueira, Lucas Mateus Rivero Rodrigues, Rafaelle Vecchia Ferreira, Bruna Silvestre Rodrigues da Silva, Mario Lucio Vilela de Resende, Suzete Aparecida Lanza Destefano, Douglas Silva Domingues, Luiz Filipe Protasio Pereira
Summary: Bacteria halo blight, caused by Pseudomonas syringae pv. garcae, is a significant disease in coffee plants, particularly in mountain regions and mild climate areas. This study focused on identifying genetic factors associated with resistance to this disease in Ethiopian accessions of Coffea arabica. The research utilized population structure analysis and genome-wide association study (GWAS) to identify quantitative trait nucleotides (QTNs) linked to resistance. The findings provide valuable insights into the genetic control of resistance to bacteria halo blight in Coffea arabica and contribute to the understanding of the domestication history of this species.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Laurent Orsi, Patricia Margaritte-Jeannin, Miora Andrianjafimasy, Orianne Dumas, Hamida Mohamdi, Emmanuelle Bouzigon, Florence Demenais, Regis Matran, Farid Zerimech, Rachel Nadif, Marie-Helene Dizier
Summary: This study identifies genetic variants associated with fluorescent oxidation products (FlOPs) in relation to oxidative stress, providing valuable insights into the pathophysiology of chronic OS-related diseases.
Article
Multidisciplinary Sciences
Helena R. R. Wells, Fatin N. Zainul Abidin, Maxim B. Freidin, Frances M. K. Williams, Sally J. Dawson
Summary: Tinnitus is a common condition with potential genetic components. A study found strong associations between RCOR1 gene and self-reported tinnitus, along with other genetic loci that may be linked to tinnitus.
SCIENTIFIC REPORTS
(2021)
Article
Cardiac & Cardiovascular Systems
Jihye Kim, Hye Won Woo, Min-Ho Shin, Yu-Mi Kim, Ji Eun Lim, Bermseok Oh, Dae Sub Song, Insong Koh, Mi Kyung Kim
Summary: Elevated serum ferritin levels interact with genetic variants (rs355140, rs4075576, rs1332202, and rs713157) in the development of Type 2 diabetes, with individuals carrying risk alleles showing a higher risk of diabetes, particularly in the highest tertile of ferritin level.
NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
(2022)
Article
Genetics & Heredity
Kai Zhang, Yu Huang, Qiong Shi
Summary: The study conducted a comparative genomic and transcriptomic survey of the 14-3-3 family in fishes, revealing diversity in gene numbers and types, potentially influenced by whole-genome duplication and gene loss. Transcriptomic analysis showed differential expression of these genes in fishes, suggesting their possible roles in terrestrial adaptation.
Article
Psychiatry
Weichen Song, Guan Ning Lin, Shunying Yu, Min Zhao
Summary: This study confirms the existence of a shared genetic basis between schizophrenia, smoking, and cannabis usage, and identifies specific genes associated with this relationship. These findings have important implications for the clinical prevention and intervention of psychosis.
PSYCHIATRY RESEARCH
(2022)
Article
Agronomy
Chaonan Shi, Huaiyu Chao, Xiaonan Sun, Yongqiang Suo, Zeyu Chen, Zhikang Li, Lin Ma, Jiaqi Li, Yan Ren, Wei Hua, Caixia Lan, Feng Chen
Summary: This study detected genetic loci for Fusarium head blight (FHB) resistance in wheat using genome-wide association study (GWAS). The results identified 1264 SNPs associated with FHB response and 14 QTL that were stably detected in two environments. Two novel resistance loci, gFHB-1B and gFHB-5A, were discovered in this study.
Article
Agronomy
Qianlong Li, Qi Feng, Heqin Wang, Yunhai Kang, Conghe Zhang, Ming Du, Yunhu Zhang, Hui Wang, Jinjie Chen, Bin Han, Yu Fang, Ahong Wang
Summary: The study analyzed the genome of Quan 9311A and found that it possesses multiple superior alleles from both CMS lines, providing new opportunities for rice breeding. The study also innovatively integrated genomics with traditional breeding techniques, offering guidance for the development of hybrid rice.
Article
Multidisciplinary Sciences
Ya-Ching Chou, Ming-Jer Chen, Pi-Hua Chen, Ching-Wen Chang, Mu-Hsien Yu, Yi-Jen Chen, Eing-Mei Tsai, Shih-Feng Tsai, Wun-Syuan Kuo, Chii-Ruey Tzeng
Summary: This study identified novel genetic variants associated with susceptibility to endometriosis in a Taiwanese population through genome-wide association study and replication, while also observing eQTL related to the expression of the INTU gene. The findings suggest that these genetic variants may impact the risk of endometriosis in the Taiwanese population.
SCIENTIFIC REPORTS
(2021)
Article
Environmental Sciences
Ruyi Liang, Xiaobing Feng, Da Shi, Bin Wang, Yongfang Zhang, Wei Liu, Linling Yu, Zi Ye, Min Zhou, Weihong Chen
Summary: This study aimed to assess the association between pyrethroid exposure and glucose homeostasis, as well as the interaction between obesity and pyrethroid exposure. The findings indicated that pyrethroid exposure was associated with glucose dyshomeostasis, and the association between pyrethroid exposure and increased fasting plasma glucose (FPG) level was enhanced by general obesity.
ENVIRONMENTAL POLLUTION
(2023)
Article
Psychiatry
Xiaomeng Chu, Jing Ye, Yan Wen, Ping Li, Bolun Cheng, Shiqiang Cheng, Lu Zhang, Li Liu, Xin Qi, Mei Ma, Chujun Liang, Om Prakash Kafle, Cuiyan Wu, Sen Wang, Xi Wang, Yujie Ning, Feng Zhang
Summary: The study found a significant association between maternal smoking during pregnancy (MSDP) and anxiety/depression behaviors in offspring, partly due to the effects of environment-gene interactions.
JOURNAL OF PSYCHIATRIC RESEARCH
(2021)
Article
Public, Environmental & Occupational Health
Trent Davidson, Justi Vinneau-Palarino, Joshua A. Goode, Jason D. Boardman
Summary: By using genome-wide data to study the association between obesity and cardiovascular health, it was found that individuals with lower genetic risk (social-behavioral obesity) have a stronger link with cardiovascular diseases. Additionally, gender differences play a significant role in this association, with men showing a stronger association with heart problems and women with hypertension and stroke.
SOCIAL SCIENCE & MEDICINE
(2021)
Article
Plant Sciences
Wu Yang, Luo Chen, Junliang Zhao, Jian Wang, Wenhui Li, Tifeng Yang, Jingfang Dong, Yamei Ma, Lian Zhou, Jiansong Chen, Wei Wu, Shaohong Zhang, Bin Liu
Summary: In this study, a genome-wide association study (GWAS) was conducted to investigate the genetic basis of pericarp colors (PC) in rice. By analyzing a diverse rice collection, several quantitative trait loci (QTLs) associated with PC were identified. The study also revealed the masking effects of major genes on minor genes and discovered novel QTLs. Additionally, a candidate gene, LOC_Os01g49830, encoding a RAV transcription factor, was identified as potentially responsible for PC in rice.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Liming Xia, Xinhua He, Xing Huang, Haixia Yu, Tingting Lu, Xiaojie Xie, Xuemei Zeng, Jiawei Zhu, Cong Luo
Summary: This study identified the members of the 14-3-3 gene family in the mango genome and analyzed their gene structures, expression patterns, and protein properties. The results showed that the 14-3-3 genes were widely expressed in all tissues of mango and had different responses to drought, salt, and low temperature stresses. This study provides a reference for further studies on the function and regulation of the Mi14-3-3 family members.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Pascal M. M. Mutie, Hugo Pomares-Milan, Naeimeh Atabaki-Pasdar, Daniel Coral, Hugo Fitipaldi, Neli Tsereteli, Juan Fernandez Tajes, Paul W. W. Franks, Giuseppe N. N. Giordano
Summary: This study explores the causal relationships between BMI and cardiometabolic diseases and risk factors using two-stage least-squares Mendelian randomisation and non-linear MR fractional polynomial method. The results show that there is a non-linear causal relationship between BMI and type 2 diabetes, hypertension, and coronary artery disease. There are also non-linear relationships between BMI and cardiometabolic risk factors. The causal effect of BMI on LDL-cholesterol is influenced by sex and menopause status.
Article
Biochemistry & Molecular Biology
Hugo Fitipaldi, Paul W. Franks
Summary: Since 2005, GWAS studies have primarily focused on European and East Asian populations, with research institutions mainly located in the United States. Male scientists dominate the authorship of GWAS papers.
HUMAN MOLECULAR GENETICS
(2023)
Editorial Material
Endocrinology & Metabolism
Paul W. Franks
Article
Endocrinology & Metabolism
Mi Huang, Melina Claussnitzer, Alham Saadat, Daniel E. Coral, Sebastian Kalamajski, Paul W. Franks
Summary: This study investigates the functional effects of the rs8192678 polymorphism in the PPARGC1A gene on human white adipocyte biology. The results show that the rs8192678 mutation is associated with adipocyte differentiation and mitochondrial function, with decreased levels of PPARGC1A mRNA and PGC-1a protein. This dysregulation affects cellular differentiation and mitochondrial function.
Article
Endocrinology & Metabolism
Anna-Maria Lampousi, Sofia Carlsson, Josefin E. Lofvenborg, Natalia Cabrera-Castro, Maria-Dolores Chirlaque, Guy Fagherazzi, Paul W. Franks, Christiane S. Hampe, Paula Jakszyn, Albert Koulman, Cecilie Kyro, Conchi Moreno-Iribas, Peter M. Nilsson, Salvatore Panico, Keren Papier, Yvonne T. van der Schouw, Matthias B. Schulze, Elisabete Weiderpass, Raul Zamora-Ros, Nita G. Forouhi, Stephen J. Sharp, Olov Rolandsson, Nicholas J. Wareham
Summary: The study found that decreased levels of circulating odd-chain fatty acids (OCFA), particularly 17:0, were associated with an increased incidence of adult-onset diabetes in both GAD65Ab-positive and GAD65Ab-negative individuals. Additionally, the combination of low 17:0 and high GAD65Ab positivity significantly increased the risk of diabetes.
Review
Medicine, General & Internal
Asa Johansson, Ole A. Andreassen, Soren Brunak, Paul W. Franks, Harald Hedman, Ruth J. F. Loos, Benjamin Meder, Erik Melen, Craig E. Wheelock, Bo Jacobsson
Summary: Complex diseases result from a combination of genetic, lifestyle, and environmental factors and include common noncommunicable diseases. Precision medicine, using genomic and molecular data, has been successful for certain diseases but faces challenges due to heterogeneity and high number of risk factors in complex diseases. Subclassifying patients based on molecular or phenotypic data holds promise for improving diagnosis, treatment, and prognosis.
JOURNAL OF INTERNAL MEDICINE
(2023)
Editorial Material
Endocrinology & Metabolism
Daniel E. E. Coral, Paul W. W. Franks
Summary: By measuring protein abundance in blood using high-throughput antibody-based techniques, a genetic map of blood proteins in humans replicates findings from much larger studies, uncovers hundreds of new signals, and establishes connections between genetic variation and multiple diseases.
Article
Cardiac & Cardiovascular Systems
Sergi Sayols-Baixeras, Koen F. F. Dekkers, Gabriel Baldanzi, Daniel Joensson, Ulf Hammar, Yi-Ting Lin, Shafqat Ahmad, Diem Nguyen, Georgios Varotsis, Sara Pita, Nynne Nielsen, Aron C. C. Eklund, Jacob B. B. Holm, H. Bjorn Nielsen, Ulrika Ericson, Louise Brunkwall, Filip Ottosson, Anna Larsson, Dan Ericson, Bjoern Klinge, Peter M. M. Nilsson, Andrei Malinovschi, Lars Lind, Goran Bergstrom, Johan Sundstrom, Johan Arnlov, Gunnar Engstrom, J. Gustav Smith, Marju Orho-Melander, Tove Fall
Summary: This study identified associations between gut microbiota composition and coronary atherosclerosis, as well as systemic inflammation markers. The findings suggest a potential role of gut microbiota in the development and progression of atherosclerosis.
Article
Nutrition & Dietetics
Kate M. M. Bermingham, Sophie Stensrud, Francesco Asnicar, Ana M. Valdes, Paul W. W. Franks, Jonathan Wolf, George Hadjigeorgiou, Richard Davies, Tim D. D. Spector, Nicola Segata, Sarah E. E. Berry, Wendy L. L. Hall
Summary: This study explores the relationship between social jetlag (SJL), gut microbial composition, diet, and cardiometabolic health. The results show a negative association between SJL and gut microbial composition, as well as unhealthy dietary habits and slight inflammation markers.
EUROPEAN JOURNAL OF NUTRITION
(2023)
Review
Endocrinology & Metabolism
Rieneke van Der Meer, Siham A. Mohamed, Valerie M. Monpellier, Ronald S. L. Liem, Eric J. Hazebroek, Paul W. Franks, Timothy M. Frayling, Ignace M. C. Janssen, Mireille J. Serlie
Summary: Limited evidence exists for the role of specific genetic variants in surgical outcomes after bariatric surgery, based on a review of current research on the association between genetic variations and weight loss and metabolic changes post-surgery.
Article
Endocrinology & Metabolism
Areti Papadopoulou, Bjorn O. Asvold, Stephen Burgess, Aleksander Kus, Marco Medici, Rosalie Sterenborg, Alexander Teumer, Panos Deloukas, Eirini Marouli
Summary: This study found that increased genetically predicted height was associated with increased risk of AITD and thyroid cancer. However, there was no evidence of a causal association between genetically predicted AITD and height.
Article
Multidisciplinary Sciences
Andrew A. Brown, Juan A. Fernandez-Tajes, Mun-gwan W. Hong, Caroline A. Brorsson, Robert W. Koivula, David Davtian, Theo Dupuis, Ambra M. Sartori, Theodora-Dafni Michalettou, Ian H. Forgie, Jonathan Adam, Kristine Allin, Robert Caiazzo, Henna Cederberg, Federico N. De Masi, Petra J. M. Elders, Giuseppe Giordano, Mark Haid, Torben Hansen, Tue H. Hansen, Andrew T. Hattersley, Alison G. Heggie, Cedric Howald, Angus G. Jones, Tarja Kokkola, Markku Laakso, Anubha Mahajan, Andrea Mari, Timothy J. McDonald, Donna McEvoy, Miranda Mourby, Petra B. Musholt, Birgitte Nilsson, Francois Pattou, Deborah Penet, Violeta Raverdy, Martin Ridderstrale, Luciana Romano, Femke Rutters, Sapna Sharma, Harriet D. Teare, Leen 't Hart, Konstantinos D. Tsirigos, Jagadish Vangipurapu, Henrik Vestergaard, Soren Brunak, Paul Franks, Gary Frost, Harald I. Grallert, Bernd Jablonka, Mark McCarthy, Imre Pavo, Oluf Pedersen, Hartmut Ruetten, Mark Walker, Jerzy Adamski, Jochen M. Schwenk, Ewan R. Pearson, Emmanouil T. Dermitzakis, Ana Vinuela, Kofi Adragni, Rosa Lundbye L. A. Allesoe, Anna Artati, Manimozhiyan Arumugam, Naeimeh Atabaki-Pasdar, Tania Baltauss, Karina Banasik, Anna L. Barnett, Patrick Baum, Jimmy D. Bell, Joline B. Beulens, Susanna Bianzano, Roberto Bizzotto, Amelie Bonnefond, Louise Cabrelli, Matilda Dale, Adem Y. Dawed, Nathalie de Preville, Koen F. Dekkers, Harshal A. Deshmukh, Christiane Dings, Louise Donnelly, Avirup Dutta, Beate Ehrhardt, Line Engelbrechtsen, Rebeca Eriksen, Yong Fan, Jorge Ferrer, Hugo Fitipaldi, Annemette Forman, Andreas Fritsche, Philippe Froguel, Johann Gassenhuber, Stephen Gough, Ulrike Graefe-Mody, Rolf Grempler, Lenka Groeneveld, Leif Groop, Valborg Gudmundsdottir, Ramneek Gupta, Anita M. H. Hennige, Anita V. Hill, Reinhard W. Holl, Michelle Hudson, Ulrik Plesner Jacobsen, Christopher Jennison, Joachim Johansen, Anna Jonsson, Tugce Karaderi, Jane Kaye, Gwen Kennedy, Maria Klintenberg, Teemu Kuulasmaa, Thorsten Lehr, Heather Loftus, Agnete Troen T. Lundgaard, Gianluca Mazzoni, Nicky McRobert, Ian McVittie, Rachel Nice, Claudia Nicolay, Giel N. Nijpels, Colin K. Palmer, Helle H. Pedersen, Mandy H. Perry, Hugo Pomares-Millan, Cornelia P. Prehn, Anna Ramisch, Simon Rasmussen, Neil Robertson, Marianne Rodriquez, Peter Sackett, Nina Scherer, Nisha Shah, Iryna Sihinevich, Roderick C. Slieker, Nadja B. Sondertoft, Birgit Steckel-Hamann, Melissa K. Thomas, Cecilia Engel E. Thomas, Elizabeth Louise L. Thomas, Barbara Thorand, Claire E. Thorne, Joachim Tillner, Andrea Tura, Mathias Uhlen, Nienke van Leeuwen, Sabine van Oort, Helene Verkindt, Josef Vogt, Peter W. Wad Sackett, Agata Wesolowska-Andersen, Brandon Whitcher, Margaret W. White
Summary: This study integrates local and distal genetic associations with multi-omics datasets to provide a roadmap for understanding the underlying mechanisms of GWAS variants on complex traits.
NATURE COMMUNICATIONS
(2023)
Article
Endocrinology & Metabolism
Richard David Leslie, Ronald Ching Wan Ma, Paul W. Franks, Kristen J. Nadeau, Ewan R. Pearson, Maria Jose Redondo
Summary: This article discusses the heterogeneity of diabetes and proposes different models for disease management. It emphasizes the importance of precision medicine in defining disease risk and complications risk, which can lead to improved health outcomes and new therapeutic approaches.
LANCET DIABETES & ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Shivani Misra, Carlos A. Aguilar-Salinas, Tinashe Chikowore, Flemming Konradsen, Ronald C. W. Ma, Lilian Mbau, Viswanathan Mohan, Robert W. Morton, Moffat J. Nyirenda, Neo Tapela, Paul W. Franks
Summary: Cardiometabolic diseases are leading preventable causes of death globally. Precision medicine and personalised healthcare can help address health disparities in low-income and middle-income countries (LMICs), however, implementation must consider local resources and infrastructure, as well as data needs of the target populations.
LANCET DIABETES & ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Paul W. Franks, William T. Cefalu, John Dennis, Jose C. Florez, Chantal Mathieu, Robert W. Morton, Martin Ridderstrale, Henrik H. Sillesen, Coen D. A. Stehouwer
Summary: Cardiometabolic disease poses a major threat to global health. Precision medicine has the potential to reduce the burden of this disease cluster and improve evidence-based medicine. It requires a well functioning system involving various stakeholders and relies on powerful computing infrastructure and research methods for analysis of large-scale data.
LANCET DIABETES & ENDOCRINOLOGY
(2023)