Article
Biochemistry & Molecular Biology
Robyn E. Wootton, Hannah J. Jones, Hannah M. Sallis
Summary: The successful prevention of mental illness relies upon the identification of causal, modifiable risk factors. Mendelian randomisation (MR) is a method that uses genetic variation to identify causal effects between risk factors and outcomes in a cost-effective and time-efficient manner. While MR studies are increasing in psychiatry, there are limitations to consider, along with the importance of clear causal questions and sensitivity analyses.
MOLECULAR PSYCHIATRY
(2022)
Review
Biochemistry & Molecular Biology
Christiaan de Leeuw, Jeanne Savage, Ioan Gabriel Bucur, Tom Heskes, Danielle Posthuma
Summary: With the availability of large genetic data sets, Mendelian Randomization (MR) has become popular as a secondary analysis method. Using genetic variants as instrumental variables, MR can estimate causal effects between phenotypes when experimental research is not feasible. However, strong assumptions are required, and not meeting these assumptions can lead to biased results. Therefore, understanding and evaluating these assumptions is crucial when using MR.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Multidisciplinary Sciences
Eloi Gagnon, Hasanga D. Manikpurage, Patricia L. Mitchell, Arnaud Girard, Emilie Gobeil, Jerome Bourgault, Frederic Begin, Andre Marette, Sebastien Theriault, Benoit J. Arsenault
Summary: Non-alcoholic fatty liver disease (NAFLD) is a common disease without specific drug therapy. A study combining observational and Mendelian randomization analyses found that certain metabolic factors, such as triglyceride-rich and high-density lipoprotein particles composition, and the ratio of polyunsaturated fatty acids to total fatty acids, are associated with NAFLD risk. These findings provide evidence for potential therapeutic targets and interventions for NAFLD prevention and treatment.
Article
Genetics & Heredity
Alexander Young, Seyed Moeen Nehzati, Stefania Benonisdottir, Aysu Okbay, Hariharan Jayashankar, Chanwook Lee, David Cesarini, Daniel J. Benjamin, Patrick Turley, Augustine Kong
Summary: This study introduces a method that imputes missing parental genotypes and estimates direct genetic effects to address confounding bias in standard GWASs. Using UK Biobank data, the results demonstrate substantial confounding bias in standard GWASs for some phenotypes.
Article
Multidisciplinary Sciences
Taozhi Li, Wenbo Shao, Yukun Wang, Rui Zhou, Zhangjun Yun, Yalin He, Yu Wu
Summary: Observational studies have found a correlation between gut microbiota composition and infertility, but there is still a lack of concrete proof for the causal relationship. A Mendelian randomization study was conducted, using genetic data from a genome-wide association study meta-analysis, to assess if gut microbiota composition influences the risk of infertility. The study confirmed a causal link between gut microbiota and infertility, and the identification of specific strains through genetic prediction provides valuable insight for early diagnosis, prevention, and treatment of infertility.
SCIENTIFIC REPORTS
(2023)
Article
Urology & Nephrology
Shuai Yuan, Susanna C. Larsson
Summary: Genetically predicted coffee and caffeine consumption is associated with a lower risk of kidney stones, as demonstrated by Mendelian randomization studies in both the UK Biobank and the FinnGen consortium datasets.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2022)
Article
Cardiac & Cardiovascular Systems
Sehoon Park, Soojin Lee, Yaerim Kim, Yeonhee Lee, Min Woo Kang, Kwangsoo Kim, Yong Chul Kim, Seung Seok Han, Hajeong Lee, Jung Pyo Lee, Kwon Wook Joo, Chun Soo Lim, Yon Su Kim, Dong Ki Kim
Summary: This study found that functional sarcopenia status, characterized by slow walking pace and poor handgrip strength, is causally associated with increased risks of cardiovascular diseases and mortality. Genetically predicted poor handgrip strength and slow walking pace showed causal effects on coronary artery disease risks. These findings support interventions targeting functional sarcopenia status to reduce risks of cardiovascular disease and mortality.
AMERICAN JOURNAL OF CARDIOLOGY
(2022)
Article
Multidisciplinary Sciences
Wei Liu, Hong Yang, Linshuoshuo Lv, Jie Song, Yuqing Jiang, Xiaohui Sun, Ding Ye, Yingying Mao
Summary: This study examines the potential causal relationship between smoking and frailty in aging using the Mendelian randomization approach. The results show that genetic predisposition to smoking is associated with an increased risk of frailty in aging. Starting smoking at a later age and smoking more cigarettes per day are both associated with higher frailty risk. Additionally, current smokers have a higher risk of frailty compared to former smokers.
SCIENTIFIC REPORTS
(2023)
Review
Public, Environmental & Occupational Health
Francesca Spiga, Mark Gibson, Sarah Dawson, Kate Tilling, George Davey Smith, Marcus R. Munafo, Julian P. T. Higgins
Summary: This study conducted a systematic review of tools designed for assessing risk of bias and/or quality of evidence in Mendelian randomization (MR) studies. The review identified seven tools specifically designed for assessing bias and quality of evidence in MR studies, all of which addressed the core assumptions of instrumental variable analysis.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2022)
Article
Multidisciplinary Sciences
Randi Marie Mohus, Helene Flatby, Kristin Liyanarachi, Andrew T. DeWan, Erik Solligard, Jan Kristian Damas, Bjorn Olav Asvold, Lise T. Gustad, Tormod Rogne
Summary: Observational studies have found an association between iron status and risk of sepsis and COVID-19. Using genetically-predicted iron biomarkers, this study demonstrates a causal effect of higher iron status on the risk of sepsis hospitalization and indications of an increased risk of being hospitalized with COVID-19.
SCIENTIFIC REPORTS
(2022)
Article
Multidisciplinary Sciences
Yiyan He, Ville Karhunen, Anna Pulakka, Marko Kantomaa, Sylvain Sebert
Summary: This study examines the associations between noise exposures and non-auditory health outcomes, considering hearing loss as a possible mediating pathway. The research also investigates the causal relationships between body constitution and hearing impairments using Mendelian randomisation. Findings suggest a shared causal variant at the FTO gene between body mass index and age-related hearing impairment, but no robust evidence for causal associations from body constitution to hearing loss. Reverse analyses indicate a negative association between age-related hearing impairment and body constitution.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Wenqiang Zhang, Li Zhang, Luo M. Yang, Chenghan Xiao, Xueyao Wu, Peijing Yan, Huijie Cui, Chao Yang, Jingwei Zhu, Xuan Wu, Mingshuang R. Tang, Yutong Wang, Lin Chen, Yunjie A. Liu, Yanqiu M. Zou, Ling E. Zhang, Chunxia Yang, Yuqin Yao, Jiayuan Li, Zhenmi S. Liu, Ben Zhang, Xia Jiang
Summary: Epidemiological studies suggest an association between migraine and chronic kidney disease (CKD), but the genetic basis has not been investigated. We aimed to understand the phenotypic and genetic relationships between migraine, CKD, and kidney function to guide interventions for migraine patients.
Article
Dermatology
Qiang Liu, Li Chen, Yipeng Wang, Xiangyu Wang, Sarah J. Lewis, Jing Wang
Summary: Using genetic associations and large study data sets, the study found no strong evidence of a causal link between atopic dermatitis and overall cancer risk.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Endocrinology & Metabolism
Junxi Liu, Rebecca C. Richmond, Jack Bowden, Ciarrah Barry, Hassan S. Dashti, Iyas Daghlas, Jacqueline M. Lane, Samuel E. Jones, Andrew R. Wood, Timothy M. Frayling, Alison K. Wright, Matthew J. Carr, Simon G. Anderson, Richard A. Emsley, David W. Ray, Michael N. Weedon, Richa Saxena, Deborah A. Lawlor, Martin K. Rutter
Summary: This study suggests that frequent insomnia symptoms are associated with higher levels of glycated hemoglobin and may have a causal role in type 2 diabetes.
Article
Multidisciplinary Sciences
Xianghong Hu, Jia Zhao, Zhixiang Lin, Yang Wang, Heng Peng, Hongyu Zhao, Xiang Wan, Can Yang
Summary: Mendelian randomization (MR) is a valuable tool for inferring causal relationships among traits using summary statistics from GWASs, but existing methods often rely on strong assumptions leading to false-positive findings. Research has shown that considering pleiotropy and sample structure is crucial for reducing confounding effects.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Plant Sciences
Fanny E. Hartmann, Marine Duhamel, Fantin Carpentier, Michael E. Hood, Marie Foulongne-Oriol, Philippe Silar, Fabienne Malagnac, Pierre Grognet, Tatiana Giraud
Summary: Genomic regions determining sexual compatibility often display recombination suppression, which can extend beyond the genes determining sexes or mating types, maintaining the multiallelic combinations required for correct compatibility determination. Recent evidence shows expansions of recombination suppression beyond mating-type genes in fungi, which have been little studied and may be more pervasive than commonly thought. The study of recombination suppression in fungi could contribute to our understanding of recombination suppression expansion across a broader range of organisms.
Article
Mycology
S. Lorena Ament-Velasquez, Hanna Johannesson, Tatiana Giraud, Robert Debuchy, Sven J. Saupe, Alfons J. M. Debets, Eric Bastiaans, Fabienne Malagnac, Pierre Grognet, Leonardo Peraza-Reyes, Pierre Gladieux, Asa Kruys, Philippe Silar, Sabine M. Huhndorf, Andrew N. Miller, Aaron A. Vogan
Article
Biochemistry & Molecular Biology
Fanny E. Hartmann, Sandra Lorena Ament-Velasquez, Aaron A. Vogan, Valerie Gautier, Stephanie Le Prieur, Myriam Berramdane, Alodie Snirc, Hanna Johannesson, Pierre Grognet, Fabienne Malagnac, Philippe Silar, Tatiana Giraud
Summary: The study reveals the presence of nonrecombining regions around the mating-type locus in the fungus Podospora anserina and related species, leading to occasional recombination due to the labile and polymorphic nature of these regions. The size and location of the nonrecombining region vary between strains and species, resulting in differences in heterozygosity levels. Low levels of heterozygosity suggest low but nonnull outcrossing rates in nature for these pseudohomothallic fungi, contributing to our understanding of mating-type chromosome evolution and mating systems.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Editorial Material
Plant Sciences
Aaron A. Vogan, Andrew N. Miller, Philippe Silar
Article
Genetics & Heredity
F. Carlier, M. Li, L. Maroc, R. Debuchy, C. Souaid, D. Noordermeer, P. Grognet, F. Malagnac
Summary: Selective gene silencing is crucial for development, with H3K27me3-enriched heterochromatin maintaining transcriptional repression and regulating cell fate. Conversely, H3K9me3-enriched heterochromatin prevents differentiation and protects against transposable elements. Research using the fungus Podospora anserina revealed an interplay between these different heterochromatin conformations, with an interdependence of H3K9me3 and H3K27me3 marks observed. Loss of specific enzymes led to defects in developmental processes, highlighting the importance of histone modifications in fungal development.
EPIGENETICS & CHROMATIN
(2021)
Article
Genetics & Heredity
Valerie Gautier, Emilie Levert, Tatiana Giraud, Philippe Silar
Summary: Melanins are pigments used by fungi for stress resistance and structural strengthening. In a specific fungi, complete inactivation of a key enzyme results in reduced female fertility, unlike a previously studied nonsense mutation. The mutants may also be useful for detecting rare genetic events in Podospora anserina.
G3-GENES GENOMES GENETICS
(2021)
Article
Microbiology
Alexandre Lassagne, Sylvain Brun, Fabienne Malagnac, Henri Adreit, Joelle Milazzo, Elisabeth Fournier, Didier Tharreau
Summary: This study investigates the biological process of sexual reproduction in the fungal pathogen Pyricularia oryzae. It reveals the presence of microconidia as male gametes and demonstrates their importance in fruiting body formation.
ENVIRONMENTAL MICROBIOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Gaelle Lelandais, Damien Remy, Fabienne Malagnac, Pierre Grognet
Summary: This study conducted a comprehensive functional annotation of the P. anserina genome using RNA-seq data, including information about promoters, transcription starting sites, terminators, alternative splicing events, and transcription of non-coding regions. These new findings will enhance our understanding of gene regulation strategies in compact genomes, such as filamentous fungi.
Article
Microbiology
Alexander Demoor, Isabelle Lacaze, Roselyne Ferrari, Christophe Lalanne, Philippe Silar, Sylvain Brun
Summary: By conducting a genetic screen in Podospora anserina, researchers identified a new gene, gun1, involved in the regulation of ascospore germination. The gun1 mutant showed uncontrolled germination and also played a role in ascospore development. This study provides new insights into the regulation of ascospore germination in filamentous fungi.
MICROBIOLOGY SPECTRUM
(2023)
Article
Microbiology
Moussa Dicko, Roselyne Ferrari, Narumon Tangthirasunun, Valerie Gautier, Christophe Lalanne, Farida Lamari, Philippe Silar
