Article
Endocrinology & Metabolism
Erin A. Semple, Mitchell T. Harberson, Baijie Xu, Rebecca Rashleigh, Tori L. Cartwright, Jessica J. Braun, Amy C. Custer, Chen Liu, Jennifer W. Hill
Summary: This study found that the sexual behavior of female MC4R knockout mice lacking melanocortin 4 receptors (MC4Rs) was altered. Further research revealed that the expression of MC4Rs in Sim1 neurons could restore sexual responsivity in female mice, while its expression in oxytocin neurons could improve sexual receptivity. These results suggest that MC4R signaling in oxytocin neurons is involved in appetitive behaviors, while MC4R signaling in Sim1 neurons plays a role in female sexual receptivity, indicating that melanocortin-driven sexual function does not rely on metabolic neural circuits.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Gastroenterology & Hepatology
Connor A. Emdin, Mary Haas, Veeral Ajmera, Tracey G. Simon, Julian Homburger, Cynthia Neben, Lan Jiang, Wei-Qi Wei, Qiping Feng, Alicia Zhou, Joshua Denny, Kathleen Corey, Rohit Loomba, Sekar Kathiresan, Amit Khera
Summary: This study identified 12 independent genetic variants, including 7 newly identified ones, that confer risk for cirrhosis. A polygenic score based on these variants can identify a subset of the population at substantially increased risk, particularly those susceptible to the hepatotoxic effects of excess alcohol consumption or obesity.
Article
Multidisciplinary Sciences
Michael G. Levin, Noah L. Tsao, Pankhuri Singhal, Chang Liu, Ha My T. Vy, Ishan Paranjpe, Joshua D. Backman, Tiffany R. Bellomo, William P. Bone, Kiran J. Biddinger, Qin Hui, Ozan Dikilitas, Benjamin A. Satterfield, Yifan Yang, Michael P. Morley, Yuki Bradford, Megan Burke, Nosheen Reza, Brian Charest, Renae L. Judy, Megan J. Puckelwartz, Hakon Hakonarson, Atlas Khan, Leah C. Kottyan, Iftikhar Kullo, Yuan Luo, Elizabeth M. McNally, Laura J. Rasmussen-Torvik, Sharlene M. Day, Ron Do, Lawrence S. Phillips, Patrick T. Ellinor, Girish N. Nadkarni, Marylyn D. Ritchie, Zoltan Arany, Thomas P. Cappola, Kenneth B. Margulies, Krishna G. Aragam, Christopher M. Haggerty, Jacob Joseph, Yan Sun, Benjamin F. Voight, Scott M. Damrauer
Summary: Heart failure is a major cause of cardiovascular morbidity and mortality. In this study, the role of common genetic variants in heart failure was characterized through a genome-wide association study meta-analysis, finding overlap with common cardiovascular risk factors and imaging measures of cardiac structure/function. Additionally, gene prioritization analyses and proteome-wide Mendelian randomization identified potential candidate genes, cellular processes, and circulating proteins related to heart failure.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Ming-Yue Zhang, Cheng Xue, Hongju Hu, Jiaming Li, Yongsong Xue, Runze Wang, Jing Fan, Cheng Zou, Shutian Tao, Mengfan Qin, Bing Bai, Xiaolong Li, Chao Gu, Shan Wu, Xu Chen, Guangyan Yang, Yueyuan Liu, Manyi Sun, Zhangjun Fei, Shaoling Zhang, Jun Wu
Summary: This study conducted genome-wide association studies to identify loci associated with fruit quality and phenological traits in pear, revealing continuous selection pressure on important traits during breeding. The candidate gene PbrSTONE was functionally verified to play a key role in regulating stone cell formation, a critical fruit quality trait in pear.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Shiyu Liao, Ju Yan, Hongkun Xing, Yuan Tu, Hu Zhao, Gongwei Wang
Summary: The study identified significant association loci for vascular bundle variations in rice, with key loci such as Ghd7 and NAL1 influencing the vascular bundles in different parts of the plant. These findings could be valuable for improving the vascular bundle system in rice breeding.
Article
Medicine, General & Internal
Caitlin W. Hicks, Dan Wang, B. Gwen Windham, Elizabeth Selvin
Summary: The study found a significant association between peripheral neuropathy and erectile dysfunction, especially in adult men without diabetes.
AMERICAN JOURNAL OF MEDICINE
(2021)
Article
Biochemical Research Methods
Shijia Wang, Shufei Ge, Benjamin Sobkowiak, Liangliang Wang, Louis Grandjean, Caroline Colijn, Lloyd. T. T. Elliott
Summary: Genome-wide association studies are often affected by population stratification. Linear mixed models are a powerful method for controlling confounding factors. However, uncertainty about the phylogenetic structure may impact the quality of the results. This study proposes a linear mixed model that incorporates a genetic similarity matrix derived from Markov chain Monte Carlo estimates of the phylogeny.
JOURNAL OF COMPUTATIONAL BIOLOGY
(2023)
Article
Agriculture, Dairy & Animal Science
Matthew Barden, Bingjie Li, Bethany E. Griffiths, Alkiviadis Anagnostopoulos, Cherry Bedford, Androniki Psifidi, Georgios Banos, Georgios Oikonomou
Summary: The study aimed to estimate the genetic parameters of digital cushion thickness (DCT), assess the genetic correlation between DCT and claw horn lesions (CHL), and identify candidate genes associated with DCT. The results showed moderate heritability of DCT and a negative genetic correlation between DCT and sole lesions at different stages of production. Additionally, genes related to inflammation, fat metabolism, and bone development were found to be associated with DCT.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Psychiatry
Zhen Zhang, Li Liu, Huijie Zhang, Chun'e Li, Yujing Chen, Jingxi Zhang, Chuyu Pan, Shiqiang Cheng, Xuena Yang, Peilin Meng, Yao Yao, Yumeng Jia, Yan Wen, Feng Zhang
Summary: This study explores the etiological mechanism of pain in depression patients from the perspective of genetics. Genome-wide association studies (GWAS), proteome-wide association study (PWAS), and transcriptome-wide association study (TWAS) were conducted to identify candidate genes associated with different pain traits in depression patients.
JOURNAL OF PSYCHIATRIC RESEARCH
(2022)
Article
Genetics & Heredity
Nay Aung, Jose D. Vargas, Chaojie Yang, Kenneth Fung, Mihir M. Sanghvi, Stefan K. Piechnik, Stefan Neubauer, Ani Manichaikul, Jerome Rotter, Kent D. Taylor, Joao A. C. Lima, David A. Bluemke, Steven M. Kawut, Steffen E. Petersen, Patricia B. Munroe
Summary: This study conducted genome-wide association analyses using a deep learning algorithm on cardiovascular magnetic resonance images of UK Biobank participants, and identified 25 unique loci associated with right ventricular structure and function. The findings were validated in a meta-analysis, and revealed associations between RV polygenic risk scores and dilated cardiomyopathy and coronary artery disease.
Article
Neurosciences
Bang-Sheng Wu, Yi-Jun Ge, Wei Zhang, Shi-Dong Chen, Shi-Tong Xiang, Ya-Ru Zhang, Ya-Nan Ou, Yu-Chao Jiang, Lan Tan, Wei Cheng, John Suckling, Jian-Feng Feng, Jin-Tai Yu, Ying Mao
Summary: In this study, a genome-wide association analysis of cerebellar white matter microstructure was conducted using diffusion tensor imaging data from 25,415 individuals from UK Biobank. The study identified 11 genetic loci and 86 genes associated with cerebellar white matter microstructure. Functional enrichment analysis revealed the involvement of GABAergic neurons and cholinergic pathways. The study also found significant genetic overlap between cerebellar white matter tracts and adjacent brain regions, as well as genetic correlations with movement, cognitive, psychiatric, and cerebrovascular traits. Overall, this study provides important insights into the genetics of cerebellar white matter microstructure and its shared genetic etiology with common brain disorders.
Article
Plant Sciences
Agnieszka Deja-Muylle, Davy Opdenacker, Boris Parizot, Hans Motte, Guillaume Lobet, Veronique Storme, Pieter Clauw, Maria Njo, Tom Beeckman
Summary: Root system architecture (RSA) directly affects nutrient uptake efficiency and plant growth. Using natural variation, this study conducted a detailed in vitro analysis of 241 Arabidopsis thaliana accessions, revealing a high variability in RSA traits among different accessions and their correlation with natural habitat conditions. The study also found a high consistency in the spatial distribution of roots between in vitro and ex vitro conditions, with a larger root area in the lower zone favoring drought tolerance. Genome-wide association studies (GWAS) based on collected RSA phenotype data identified multiple known genes associated with RSA traits and potential candidate genes involved in adaptation to natural habitats.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Statistics & Probability
Bingxin Zhao, Hongtu Zhu
Summary: The study investigates and addresses the bias phenomenon of cross-trait PRS in numerous GWAS applications and proposes a consistent estimator to correct the bias. Results show that the bias-corrected estimators uncover a moderate degree of genetic overlap between cognitive function and human brain structures.
JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION
(2022)
Review
Biochemistry & Molecular Biology
Yin Huang, Dan Li, Lu Qiao, Yu Liu, Qianqian Peng, Sijie Wu, Manfei Zhang, Yajun Yang, Jingze Tan, Shuhua Xu, Li Jin, Sijia Wang, Kun Tang, Stefan Grunewald
Summary: This study conducted a genome-wide association study on the genetic basis of facial morphology in the Han Chinese population, identifying significant associations between multiple facial features and different genomic regions. These findings contribute to a more comprehensive understanding of the genetic factors underlying variation in human facial morphology.
JOURNAL OF GENETICS AND GENOMICS
(2021)
Article
Multidisciplinary Sciences
Yen-Fu Cheng, Sudha Xirasagar, Nai-Wen Kuo, Shiu-Dong Chung, Herng-Ching Lin
Summary: This study found a higher likelihood of erectile dysfunction (ED) in patients with tinnitus using a nationwide population-based database. The results suggest a novel association between ED and tinnitus, urging physicians to be alert to the possibility of developing ED in patients treated for tinnitus.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Mengzhen Liu, Yu Jiang, Robbee Wedow, Yue Li, David M. Brazel, Fang Chen, Gargi Datta, Jose Davila-Velderrain, Daniel McGuire, Chao Tian, Xiaowei Zhan, Helene Choquet, Anna R. Docherty, Jessica D. Faul, Johanna R. Foerster, Lars G. Fritsche, Maiken Elvestad Gabrielsen, Scott D. Gordon, Jeffrey Haessler, Jouke-Jan Hottenga, Hongyan Huang, Seon-Kyeong Jang, Philip R. Jansen, Yueh Ling, Reedik Magi, Nana Matoba, George McMahon, Antonella Mulas, Valeria Orru, Teemu Palviainen, Anita Pandit, Gunnar W. Reginsson, Anne Heidi Skogholt, Jennifer A. Smith, Amy E. Taylor, Constance Turman, Gonneke Willemsen, Hannah Young, Kendra A. Young, Gregory J. M. Zajac, Wei Zhao, Wei Zhou, Gyda Bjornsdottir, Jason D. Boardman, Michael Boehnke, Dorret I. Boomsma, Chu Chen, Francesco Cucca, Gareth E. Davies, Charles B. Eaton, Marissa A. Ehringer, Tonu Esko, Edoardo Fiorillo, Nathan A. Gillespie, Daniel F. Gudbjartsson, Toomas Haller, Kathleen Mullan Harris, Andrew C. Heath, John K. Hewitt, Ian B. Hickie, John E. Hokanson, Christian J. Hopfer, David J. Hunter, William G. Iacono, Eric O. Johnson, Yoichiro Kamatani, Sharon L. R. Kardia, Matthew C. Keller, Manolis Kellis, Charles Kooperberg, Peter Kraft, Kenneth S. Krauter, Markku Laakso, Penelope A. Lind, Anu Loukola, Sharon M. Lutz, Pamela A. F. Madden, Nicholas G. Martin, Matt McGue, Matthew B. McQueen, Sarah E. Medland, Andres Metspalu, Karen L. Mohlke, Jonas B. Nielsen, Yukinori Okada, Ulrike Peters, Tinca J. C. Polderman, Danielle Posthuma, Alexander P. Reiner, John P. Rice, Eric Rimm, Richard J. Rose, Valgerdur Runarsdottir, Michael C. Stallings, Alena Stancakova, Hreinn Stefansson, Khanh K. Thai, Hilary A. Tindle, Thorarinn Tyrfingsson, Tamara L. Wall, David R. Weir, Constance Weisner, John B. Whitfield, Bendik Slagsvold Winsvold, Jie Yin, Luisa Zuccolo, Laura J. Bierut, Kristian Hveem, James J. Lee, Marcus R. Munafo, Nancy L. Saccone, Cristen J. Willer, Marilyn C. Cornelis, Sean P. David, David A. Hinds, Eric Jorgenson, Jaakko Kaprio, Jerry A. Stitzel, Kari Stefansson, Thorgeir E. Thorgeirsson, Goncalo Abecasis, Dajiang J. Liu, Scott Vrieze, Michelle Agee, Babak Alipanahi, Adam Auton, Robert K. Bell, Katarzyna Bryc, Sarah L. Elson, Pierre Fontanillas, Nicholas A. Furlotte, David A. Hinds, Bethann S. Hromatka, Karen E. Huber, Aaron Kleinman, Nadia K. Litterman, Matthew H. McIntyre, Joanna L. Mountain, Carrie A. M. Northover, J. Fah Sathirapongsasuti, Olga V. Sazonova, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Joyce Y. Tung, Vladimir Vacic, Catherine H. Wilson, Steven J. Pitts, Amy Mitchell, Bendik S. Winsvold, Borge Sivertsen, Eystein Stordal, Gunnar Morken, Havard Kallestad, Ingrid Heuch, John-Anker Zwart, Katrine Kveli Fjukstad, Linda M. Pedersen, Marianne Bakke Johnsen, Marit Skrove, Marit Saebo Indredavik, Ole Kristian Drange, Ottar Bjerkeset, Sigrid Borte, Synne Oien Stensland
Article
Pediatrics
Myles S. Faith, James B. Hittner, Shanta R. Hurston, Jie Yin, Louise C. Greenspan, Charles P. Quesenberry, Erica P. Gunderson, Kathryn G. Dewey
Article
Multidisciplinary Sciences
Andrew Thompson, James Cook, Helene Choquet, Eric Jorgenson, Jie Yin, Tarja Kinnunen, Jeff Barclay, Andrew P. Morris, Munir Pirmohamed
Article
Genetics & Heredity
Pirro G. Hysi, Helene Choquet, Anthony P. Khawaja, Robert Wojciechowski, Milly S. Tedja, Jie Yin, Mark J. Simcoe, Karina Patasova, Omar A. Mahroo, Khanh K. Thai, Phillippa M. Cumberland, Ronald B. Melles, Virginie J. M. Verhoeven, Veronique Vitart, Ayellet Segre, Richard A. Stone, Nick Wareham, Alex W. Hewitt, David A. Mackey, Caroline C. W. Klaver, Stuart MacGregor, Peng T. Khaw, Paul J. Foster, Jeremy A. Guggenheim, Jugnoo S. Rahi, Eric Jorgenson, Christopher J. Hammond
Article
Biology
Helene Choquet, Ronald B. Melles, Jie Yin, Thomas J. Hoffmann, Khanh K. Thai, Mark N. Kvale, Yambazi Banda, Alison J. Hardcastle, Stephen J. Tuft, M. Maria Glymour, Catherine Schaefer, Neil Risch, K. Saidas Nair, Pirro G. Hysi, Eric Jorgenson
COMMUNICATIONS BIOLOGY
(2020)
Review
Biotechnology & Applied Microbiology
Navneet Matharu, Nadav Ahituv
NATURE REVIEWS DRUG DISCOVERY
(2020)
Article
Engineering, Biomedical
Yi-Chen Ethan Li, Yasamin A. Jodat, Roya Samanipour, Giulio Zorzi, Kai Zhu, Minoru Hirano, Karen Chang, Adnan Arnaout, Shabir Hassan, Navneet Matharu, Ali Khademhosseini, Mina Hoorfar, Su Ryon Shin
Summary: Researchers have used embedded 3D bioprinting to create structured brain-like co-culture constructs with neurospheroid patterns, mimicking a supportive bed resembling a neural stem cell growth environment. These brain-like co-cultures can provide a reproducible platform for modeling neurological diseases, neural regeneration, and drug development and repurposing.
Article
Biology
Eric Jorgenson, Helene Choquet, Jie Yin, Thomas J. Hoffmann, Yambazi Banda, Mark N. Kvale, Neil Risch, Catherine Schaefer, Maryam M. Asgari
COMMUNICATIONS BIOLOGY
(2020)
Article
Psychiatry
Helene Choquet, Jie Yin, Eric Jorgenson
Summary: The study found significant associations between genetic ancestry and smoking behaviors in different race/ethnicity groups.
TRANSLATIONAL PSYCHIATRY
(2021)
Article
Biology
Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Helene Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O'Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
Summary: The study provides insights into the genetic basis of keratoconus, identifying multiple genomic loci associated with the disease and implicating genetic pathways related to collagen matrix integrity and cell differentiation. This has potential implications for future diagnostic tests and treatments.
COMMUNICATIONS BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Daniel McGuire, Yu Jiang, Mengzhen Liu, J. Dylan Weissenkampen, Scott Eckert, Lina Yang, Fang Chen, Arthur Berg, Scott Vrieze, Bibo Jiang, Qunhua Li, Dajiang J. Liu
Summary: The study introduces a method called MAMBA, which assesses the posterior-probability-of-replicability for identified associations by leveraging the strength and consistency of association signals between contributing studies. Simulation results demonstrate that MAMBA is more powerful and robust than existing methods, and produces more accurate genetic effects estimates.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Helene Choquet, Ronald B. Melles, Deepti Anand, Jie Yin, Gabriel Cuellar-Partida, Wei Wang, Thomas J. Hoffmann, K. Saidas Nair, Pirro G. Hysi, Salil A. Lachke, Eric Jorgenson
Summary: The authors conducted a multiethnic genome-wide association meta-analysis of cataract, identifying 37 new loci and replicating known and new loci. They also performed sex-specific analyses, identifying new associations specific to women.
NATURE COMMUNICATIONS
(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.
Article
Biology
Helene Choquet, Jie Yin, Alice S. Jacobson, Brandon H. Horton, Thomas J. Hoffmann, Eric Jorgenson, Andrew L. Avins, Alice R. Pressman
Summary: Helene Choquet et al. identified novel loci associated with migraine in a large multiethnic genome-wide meta-analysis. They found 79 loci associated with migraine, including 45 which have not been previously reported and 3 that were specific to women, and which may lead to an improved understanding of migraine etiology.
COMMUNICATIONS BIOLOGY
(2021)
Article
Endocrinology & Metabolism
Fumitaka Inoue, Walter L. Eckalbar, Yi Wang, Karl K. Murphy, Navneet Matharu, Christian Vaisse, Nadav Ahituv