Article
Toxicology
Zhichao Han, Jingjing Gu, Junyi Xin, Hanting Liu, Yanling Wu, Mulong Du, Haiyan Chu, Yadong Liu, Zhengdong Zhang
Summary: This study investigated the association between genetic variants in the choline metabolism pathway and bladder cancer susceptibility. The results showed that the C allele of rs6810830 in ENPP6 was a significant protective allele for bladder cancer. Additionally, the study found that the expression of ENPP6 was decreased in bladder tumors and high expression was associated with worse overall survival in bladder cancer patients.
ARCHIVES OF TOXICOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Bo Gong, Lulin Huang, Yongquan He, Wen Xie, Yi Yin, Yi Shi, Jialing Xiao, Ling Zhong, Yi Zhang, Zhilin Jiang, Fang Hao, Yu Zhou, Huan Li, Li Jiang, Xingxiang Yang, Xiangrong Song, Yan Kang, Lin Tuo, Yi Huang, Ping Shuai, Yuping Liu, Fang Zheng, Zhenglin Yang
Summary: A genetic variant in the IL-6 gene has been identified to protect against critical conditions with COVID-19 by decreasing IL-6 expression in the serum.
SIGNAL TRANSDUCTION AND TARGETED THERAPY
(2022)
Review
Biochemistry & Molecular Biology
Malgorzata Sobstyl, Peet Brecht, Anna Sobstyl, Paulina Mertowska, Ewelina Grywalska
Summary: The female reproductive tract has a specific microbiome that is important for maintaining health. Imbalances in the microbiome can contribute to gynecological cancers. Understanding the relationship between microbiota and endometrial cancer is crucial for prevention and treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Alem A. Belachew, Xifeng Wu, Rashida Callender, Rosalie Waller, Robert Z. Orlowski, Celine M. Vachon, Nicola J. Camp, Elad Ziv, Michelle A. T. Hildebrandt
Summary: The study identified several variants within the Wnt/beta-catenin pathway associated with MM susceptibility. These findings highlight the potential genetic role of Wnt/beta-catenin signaling in MM etiology among a diverse patient population.
CANCER EPIDEMIOLOGY
(2021)
Article
Genetics & Heredity
Maria Nethander, Sofia Moverare-Skrtic, Anders Kampe, Eivind Coward, Ene Reimann, Louise Grahnemo, Eva Borbely, Zsuzsanna Helyes, Thomas Funck-Brentano, Martine Cohen-Solal, Juha Tuukkanen, Antti Koskela, Jianyao Wu, Lei Li, Tianyuan Lu, Maiken E. Gabrielsen, Reedik Estonian Biobank Res Team, Reedik Magi, Mari Hoff, Ulf H. Lerner, Petra Henning, Henrik Ullum, Christian Erikstrup, Soren Brunak, Tiinamaija DBDS Genomic Consortium, Arnulf Langhammer, Tiinamaija Tuomi, Asmundur Oddsson, Kari Stefansson, Ulrika Pettersson-Kymmer, Sisse Rye Ostrowski, Ole Birger Vesterager Pedersen, Unnur Styrkarsdottir, Outi Makitie, Kristian Hveem, J. Brent Richards, Claes Ohlsson
Summary: This study identified 43 loci associated with forearm fracture through genome-wide association analysis, including some influencing bone quality parameters. Functional studies of one of these loci revealed that Tac4 knockout mice exhibit reduced mechanical bone strength without affecting bone mineral density.
Article
Oncology
Zhenjian Zhuo, Lei Miao, Wenfeng Hua, Huitong Chen, Zhonghua Yang, Yong Li, Jiao Zhang, Suhong Li, Jiwen Cheng, Li Li, Huimin Xia, Jing He
Summary: Through genotype analysis of Chinese children diagnosed with hepatoblastoma and controls, two SNPs in the XPC gene were found to be associated with increased or decreased risk of hepatoblastoma, suggesting XPC gene as a potential biomarker for hepatoblastoma risk.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Multidisciplinary Sciences
Sebastian May-Wilson, Nana Matoba, Kaitlin H. Wade, Jouke-Jan Hottenga, Maria Pina Concas, Massimo Mangino, Eryk J. Grzeszkowiak, Cristina Menni, Paolo Gasparini, Nicholas J. Timpson, Maria G. Veldhuizen, Eco de Geus, James F. Wilson, Nicola Pirastu
Summary: The study identified genetic variants associated with food liking, showing that different food liking traits correlate with different brain areas and other food consumption traits.
NATURE COMMUNICATIONS
(2022)
Review
Health Care Sciences & Services
Soukaina Boutriq, Alicia Gonzalez-Gonzalez, Isaac Plaza-Andrades, Aurora Laborda-Illanes, Lidia Sanchez-Alcoholado, Jesus Peralta-Linero, Maria Emilia Dominguez-Recio, Maria Jose Bermejo-Perez, Rocio Lavado-Valenzuela, Emilio Alba, Maria Isabel Queipo-Ortuno
Summary: Endometrial cancer is classified into Type I and Type II, each with distinct morphological, molecular characteristics, and treatment pathways. Understanding the molecular biology and genetics of endometrial cancer is crucial for prognosis and therapy development. Emerging research has started to focus on the role of the endometrial microbiome in endometrial cancer.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Agriculture, Multidisciplinary
Huihui Zhang, Jianzheng Zou, Baojun Yang, Yixi Zhang, Zewen Liu
Summary: CYP6ER1 overexpression is a common mechanism for neonicotinoid resistance in Nilaparvata lugens, although the direct evidence for the metabolism of other neonicotinoids by CYP6ER1 is lacking. In this study, a CYP6ER1 knockout strain (CYP6ER1-/-) was constructed and showed higher susceptibility to imidacloprid and thiacloprid compared to the wild type strain. Recombinant CYP6ER1 exhibited the highest activity to metabolize imidacloprid and thiacloprid, indicating insecticide structure-dependent function of CYP6ER1.
JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
(2023)
Review
Biochemistry & Molecular Biology
Joshua Disatham, Lisa Brennan, Ales Cvekl, Marc Kantorow
Summary: Recent advances in next-generation sequencing and data analysis have revolutionized our understanding of tissue development and disease. Applications of omics technologies, such as RNA-seq and whole-genome bisulfite sequencing, have revealed essential pathways and features governing lens structure and function. Integrating multiomics data has also led to the identification of novel gene functions and cellular processes. This review highlights the importance of these technologies in advancing our knowledge of ocular biology and function.
Article
Biochemistry & Molecular Biology
Yi Zeng, Benjamin J. Fair, Huilin Zeng, Aiswarya Krishnamohan, Yichen Hou, Johnathon M. Hall, Alexander J. Ruthenburg, Yang Li, Jonathan P. Staley
Summary: Previous studies suggested that most vertebrate genes require exon definition for splicing, where spliceosome assembly occurs on exons rather than introns. However, our research found that 90% of introns, including long introns, can splice before the transcription of a downstream exon, indicating that exon definition is not necessary for most human introns. Additionally, splicing timing varies greatly among introns and is influenced by various genetic elements.
Article
Cell Biology
Wenxiang Hu, Chunjie Jiang, Mindy Kim, Wenjian Yang, Kun Zhu, Dongyin Guan, Wenjian Lv, Yang Xiao, Jessica R. Wilson, Daniel J. Rader, Ching-Hon Pui, Mary Relling, Mitchell A. Lazar
Summary: The study revealed cell type-specific and individual-specific responses to glucocorticoids, attributed to single-nucleotide polymorphisms that altered the binding motifs of the glucocorticoid receptor or its cooperating factors. Additionally, genetic variants affecting chromatin accessibility or structure were found to modulate the response to glucocorticoids. These genetic variations influenced glucocorticoid-induced metabolic perturbations and were associated with increased serum glucose, lipids, and body mass in subjects on glucocorticoid therapy.
Article
Multidisciplinary Sciences
Xin Yi, Minzhe Li, Guang He, Huihui Du, Xingwang Li, Dongmei Cao, Lu Wang, Xi Wu, Fengping Yang, Xu Chen, Lin He, Yong Ping, Daizhan Zhou
Summary: This study identified possible pathogenic mutations in the TENM4 gene and demonstrated its association with impaired neural circuits and behaviors observed in schizophrenia through aberrant expression leading to lower learning ability, reduced sleep, and increased aggressiveness in animal models.
Review
Medicine, General & Internal
Ivana Budic, Tatjana Jevtovic Stoimenov, Dimitrije Pavlovic, Vesna Marjanovic, Ivona Djordjevic, Marija Stevic, Dusica Simic
Summary: Individual variability in response to anesthesia drugs is common and influenced by genetic and environmental factors. Propofol, the most common intravenous anesthetic, can be affected by genetic factors such as gene polymorphisms. However, there is a need for further research on multiple pathways to understand the individual differences in propofol pharmacokinetics and pharmacodynamics.
FRONTIERS IN MEDICINE
(2022)
Article
Neurosciences
Lorenza Dall'Aglio, Cathryn M. Lewis, Oliver Pain
Summary: A transcriptome-wide association study identified 94 genes differentially expressed in depression, with approximately half being novel. Six of these genes showed strong, colocalized, and potentially causal associations with depression. Enrichment analysis highlighted dysregulation of gene sets related to neuronal and synaptic processes.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Statistics & Probability
Wei Liu, Huazhen Lin, Shurong Zheng, Jin Liu
Summary: This article introduces a generalized factor model, algorithm, and theory for ultra-high dimensional mixed types of variables. The proposed method demonstrates advantages over existing factor models in terms of predictive and interpretable estimators for loadings and factors.
JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION
(2023)
Article
Statistics & Probability
Xingyu Zhou, Yuling Jiao, Jin Liu, Jian Huang
Summary: We propose a deep generative approach to sampling from a conditional distribution, using neural networks for nonparametric estimation. Our method has advantages in handling high-dimensional and continuous/discrete variables, and achieves good results in numerical experiments.
JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION
(2023)
Article
Geriatrics & Gerontology
Mary Revelas, Anbupalam Thalamuthu, Anna Zettergren, Christopher Oldmeadow, Jenna Najar, Nazib M. Seidu, Nicola J. Armstrong, Carlos Riveros, John B. Kwok, Peter R. Schofield, Julian N. Trollor, Margda Waern, Margaret J. Wright, Henrik Zetterberg, David Ames, Kaj Belnnow, Henry Brodaty, Rodney J. Scott, Ingmar Skoog, John R. Attia, Perminder S. Sachdev, Karen A. Mather
Summary: This study found that individuals with a high polygenic risk for exceptional longevity have a lower prevalence of metabolic syndrome, suggesting that high-risk individuals have a healthy metabolic profile that promotes longevity.
Article
Biology
Chenlin Zhang, Huazhen Lin, Li Liu, Jin Liu, Yi Li
Summary: This article proposes a new functional regression model that links the covariance structures of response curves to external covariates. By allowing the variances of random scores to be dependent on covariates, it identifies eigenfunctions for each individual, resulting in improved interpretability and prediction power. The utility of the developed method is demonstrated through simulations and an analysis of real data concerning parental effects on offspring growth curves, yielding biologically interesting results.
Article
Immunology
Mengying Liu, Lei Jia, Xing Guo, Xiuli Zhai, Hanping Li, Yongjian Liu, Jingwan Han, Bohan Zhang, Xiaolin Wang, Tianyi Li, Yanglan Wang, Jingyun Li, Changyuan Yu, Lin Li
Summary: This study provides a comprehensive analysis of the presence and distribution of HERV-K HML-8 sequences within the human genome and hominoids, as well as the characterization of their structure and evolution. The results show that HML-8 elements were integrated into the primate lineage around 35 to 42 million years ago during primates evolutionary speciation. These findings offer a detailed background for future functional studies.
AIDS RESEARCH AND HUMAN RETROVIRUSES
(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.
Review
Clinical Neurology
Alessandro Silvani, Imad Ghorayeb, Mauro Manconi, Yuqing Li, Stefan Clemens
Summary: This article presents the first systematic review of putative animal models of Restless Legs Syndrome (RLS) and discusses their validity and role in understanding the underlying pathophysiological mechanisms. By examining the causal links between genetic risk factors, organ dysfunction, and changes in neural circuitry, the article suggests that new treatment options for RLS can be developed.
Article
Endocrinology & Metabolism
Xuling Chang, Kevin Yiqiang Chua, Fang Lin Ng, Ling Wang, Jianjun Liu, Jian-Min Yuan, Chiea-Chuen Khor, Chew-Kiat Heng, Rajkumar Dorajoo, Woon-Puay Koh
Summary: This study investigated the relationship between body mass index (BMI) in midlife and functional mobility in late life. The results showed a causal effect of obesity on mobility dysfunction, with high BMI leading to poorer performance in the Timed Up-and-Go test (TUG). Genetic analyses also indicated potential neuronal dysfunctions in regulating the link between obesity and mobility dysfunction.
INTERNATIONAL JOURNAL OF OBESITY
(2023)
Article
Oncology
Sara Lindstrom, Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James Macdonald, Tabitha Harrison, Constance Turman, Hongjie Chen, Nicholas Mancuso, Theo Bammler, Steve Gallinger, Stephen B. Gruber, Marc J. Gunter, Loic Le Marchand, Victor Moreno, Kenneth Offit, Immaculata De Vivo, Tracy A. O'Mara, Amanda B. Spurdle, Ian Tomlinson, Rebecca Fitzgerald, Puya Gharahkhani, Ines Gockel, Janusz Jankowski, Stuart Macgregor, Johannes Schumacher, Jill Barnholtz-Sloan, Melissa L. Bondy, Richard S. Houlston, Robert B. Jenkins, Beatrice Melin, Margaret Wrensch, Paul Brennan, David C. Christiani, Mattias Johansson, James Mckay, Melinda C. Aldrich, Christopher Amos, Maria Teresa Landi, Adonina Tardon, D. Timothy Bishop, Florence Demenais, Alisa M. Goldstein, Mark M. Iles, Peter A. Kanetsky, Matthew H. Law, Laufey T. Amundadottir, Rachael Stolzenberg-Solomon, Brian M. Wolpin, Alison Klein, Gloria Petersen, Harvey Risch, Stephen J. Chanock, Mark P. Purdue, Ghislaine Scelo, Paul Pharoah, Siddhartha Kar, Rayjean J. Hung, Bogdan Pasaniuc, Peter Kraft
Summary: This study quantified the shared genetic contribution to risk of different cancers and identified novel cancer susceptibility loci using data from 12 cancer genome-wide association studies. The results suggest that some genetic risk variants are shared among cancers, but most of cancer heritability is specific to certain tissues. Cross-disease analysis allows for increased statistical power and the identification of new susceptibility regions. Future studies are likely to discover additional regions associated with the risk of multiple cancer types.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Chemistry, Multidisciplinary
Jinbang Zhang, Jingwan Han, Hui Li, Zhengyang Li, Pengfei Zou, Jiaxin Li, Te Zhao, Junwei Che, Yang Yang, Meiyan Yang, Yuli Wang, Wei Gong, Zhiping Li, Lin Li, Chunsheng Gao, Haihua Xiao
Summary: A new system is constructed by functionalizing siRNA delivery lipid nanoparticles with the lymphocyte membrane and 12p1, which can escape immune recognition, has HIV-1 neutralizing capacity, and the ability to deliver siRNA specifically into HIV-1-infected cells. This system can escape uptake by the mononuclear phagocyte system, exhibits strong binding ability with gp120, and shows significant gene silencing effect on HIV-1-infected cells.
Article
Public, Environmental & Occupational Health
Jiaofeng Gui, Yuqing Li, Haiyang Liu, Lei-lei Guo, Jinlong Li, Yunxiao Lei, Xiaoping Li, Lu Sun, Liu Yang, Ting Yuan, Congzhi Wang, Dongmei Zhang, Huanhuan Wei, Jing Li, Mingming Liu, Ying Hua, Lin Zhang
Summary: This study aimed to predict metabolic syndrome in middle-aged and elderly Chinese adults. All obesity- and lipid-related indices, except ABSI, were able to predict metabolic syndrome. TyG-BMI was the best indicator in men, while CVAI was the best indicator in women. In general, lipid-related indices performed better than obesity-related indices in predicting metabolic syndrome.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Peripheral Vascular Disease
Matthew J. Lennon, Anbupalam Thalamuthu, Ben Chun Pan Lam, John D. Crawford, Perminder S. Sachdev
Summary: This UK Biobank study found that genetic propensity for high and low blood pressure impacts midlife cognition in subtle ways, affecting cognitive domains differently. While a genetic propensity to low blood pressure may preserve nontimed tests in midlife, it may come at a trade-off with worsened attention scores and reaction time.
Article
Medicine, General & Internal
Matthew J. Lennon, Ben Chun Pan Lam, Darren M. Lipnicki, John D. Crawford, Ruth Peters, Aletta E. Schutte, Henry Brodaty, Anbupalam Thalamuthu, Therese Rydberg-Sterner, Jenna Najar, Ingmar Skoog, Steffi G. Riedel-Heller, Susanne Roehr, Alexander Pabst, Antonio Lobo, Concepcion De-la-Camara, Elena Lobo, Toyin Bello, Oye Gureje, Akin Ojagbemi, Richard B. Lipton, Mindy J. Katz, Carol A. Derby, Ki Woong Kim, Ji Won Han, Dae Jong Oh, Elena Rolandi, Annalisa Davin, Michele Rossi, Nikolaos Scarmeas, Mary Yannakoulia, Themis Dardiotis, Hugh C. Hendrie, Sujuan Gao, Isabelle Carriere, Karen Ritchie, Kaarin J. Anstey, Nicolas Cherbuin, Shifu Xiao, Ling Yue, Wei Li, Maelenn M. Guerchet, Pierre-Marie Preux, Victor Aboyans, Mary N. Haan, Allison E. Aiello, Tze Pin Ng, Ma Shwe Zin Nyunt, Qi Gao, Marcia Scazufca, Perminder S. S. Sachdev
Summary: This study found that untreated hypertension was associated with increased risk of dementia compared to healthy controls, while individuals with treated hypertension did not have an increased risk. There was no association between antihypertensive use and dementia risk based on baseline blood pressure.
Article
Multidisciplinary Sciences
Samantha A. A. Streicher, Unhee Lim, S. Lani Park, Yuqing Li, Xin Sheng, Victor Hom, Lucy Xia, Loreall Pooler, John Shepherd, Lenora W. M. Loo, Thomas Ernst, Steven Buchthal, Adrian A. A. Franke, Maarit Tiirikainen, Lynne R. Wilkens, Christopher A. A. Haiman, Daniel O. O. Stram, Iona Cheng, Loic Le Marchand
Summary: This study identified genetic variants associated with intra-abdominal visceral fat deposition, which vary by sex and race/ethnicity. The results showed significant signals on chromosome 2q14.3 in the sex-combined and male-only genome-wide association studies, and a suggestive variant on 13q12.11 in the female-only genome-wide association study. These findings highlight the importance of considering sex and racial/ethnic differences in visceral fat distribution.
Review
Clinical Neurology
Alessandro Silvani, Imad Ghorayeb, Mauro Manconi, Yuqing Li, Stefan Clemens
Summary: Restless legs syndrome is a sensorimotor disorder that severely affects sleep. The long-term response to current treatment is often unsatisfactory. Researchers have developed animal models to decipher the underlying pathophysiological mechanisms of the syndrome and suggest potential improvements for treatment.
