Results 101 to 110 of about 1,141,533 (358)

Genetic Evidence Supporting a Role for Brain Region Volume and Functional Network Alterations in Major Depression

Advanced Science, EarlyView.
Genome‐wide analyses indicate that reduced ventral diencephalon and thalamus volumes, along with decreased functional connectivity within the triple network (DMN/CEN/SN), are uniquely associated with the risk of major depression (MD) onset, compared to other similar severe psychiatric disorders.
Ming‐Min Xu, Nan Li, Yi‐Wen Lv, Wen‐Miao Yang, Zhi‐Yun Yu, Yi‐Min Zhang, Yu Guo, Xiao‐Yin Chen   +7 more
wiley   +1 more source

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Circulating Fetuin-A and Risk of Type 2 Diabetes: A Mendelian Randomization Analysis [PDF]

Diabetes, 2018
Fetuin-A, a hepatic-origin protein, is strongly positively associated with risk of type 2 diabetes in human observational studies, but it is unknown whether this association is causal. We aimed to study the potential causal relation of circulating fetuin-A to risk of type 2 diabetes in a Mendelian randomization study with single nucleotide ...
Paul W. Franks, Paul W. Franks, Miren Dorronsoro, Núria Sala, Karina Meidtner, Ivonne Sluijs, Francesca Mancini, Francesca Mancini, Heinz Freisling, Matthias B. Schulze, Dagfinn Aune, Amalia Mattiello, Norbert Stefan, Courtney Dow, Courtney Dow, Elio Riboli, Olov Rolandsson, Heiner Boeing, Elena Salamanca-Fernández, Elena Salamanca-Fernández, Yvonne T. van der Schouw, Timothy J. Key, J. Ramón Quirós, Peter M. Nilsson, Marcela Guevara, Stephen J. Sharp, Claudia Langenberg, Nicholas J. Wareham, Marc J. Gunter, Rudolf Kaaks, Nicola D. Kerrison, Konstantinos K. Tsilidis, Konstantinos K. Tsilidis, Eva Ardanaz, Kay-Tee Khaw, Guy Fagherazzi, Guy Fagherazzi, José María Huerta, Anja Olsen, Rosario Tumino, Tilman Kühn, Vittorio Krogh, Anne Tjønneland, Domenico Palli, Nita G. Forouhi, Annemieke M.W. Spijkerman, Kim Overvad, Kim Overvad, Janine Kröger, Carlotta Sacerdote   +49 more
openaire   +8 more sources

Addressing the credibility crisis in Mendelian randomization

BMC Medicine
Background Genome-wide association studies have enabled Mendelian randomization analyses to be performed at an industrial scale. Two-sample summary data Mendelian randomization analyses can be performed using publicly available data by anyone who has ...
Stephen Burgess, Benjamin Woolf, Amy M. Mason, Mika Ala-Korpela, Dipender Gill   +4 more
doaj   +1 more source

Revealing the link between gut microbiota and brain tumor risk: a new perspective from Mendelian randomization

Frontiers in Cellular and Infection Microbiology
BackgroundRecent studies have shown that gut microbiota may be related to the occurrence of brain tumors, but direct evidence is lacking. This study used the Mendelian randomization study (MR) method to explore the potential causal link between gut ...
Jianyu Yang, Jietao Lu, Yuhan Dong, Youdong Wei, Michael Christian, Junmeng Huang, Haiyan Kuang, Du Cao   +7 more
doaj   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

A bidirectional Mendelian randomization study integrating genome-wide association studies, expression quantitative trait locus, and methylation quantitative trait locus data revealed causal relationship between heavy cigarette dependence and Barrett’s esophagus

SAGE Open Medicine
Background: The association between smoking dependence and the risk of developing Barrett’s esophagus remains unclear. This study aimed to investigate whether a causal relationship exists between smoking dependence and Barrett’s esophagus, using ...
Zhou An, Meichun Zeng, Xianhua Wang
doaj   +1 more source

Assessment of relationships between epigenetic age acceleration and multiple sclerosis: a bidirectional mendelian randomization study

Epigenetics & Chromatin
Background The DNA methylation-based epigenetic clocks are increasingly recognized for their precision in predicting aging and its health implications. Although prior research has identified connections between accelerated epigenetic aging and multiple ...
Hongwei Liu, Hanqing Zhang, Zhaoxu Yin, Miaomiao Hou   +3 more
doaj   +1 more source

Late‐Onset Spondylarthritis Presenting as Glucocorticoid‐Resistant Polymyalgia Rheumatica: A hitherto underappreciated entity where TNF or IL‐17 Blockade may have a Therapeutic Role

Arthritis &Rheumatology, Accepted Article.
Background Polymyalgia rheumatica (PMR) is an age‐related inflammatory disease with shoulder‐hip girdle involvement. Magnetic resonance imaging (MRI) reveals extracapsular/entheseal soft tissue involvements in both PMR and spondyloarthritis (SpA) with sacroiliac joint and peri‐entheseal spinal bone marrow oedema (BMO) being characteristic of SpA ...
Kerem Abacar, Gabriele De Marco, Jake Weddell, Katya Meridor, Tom Macleod, Andrew Scarsbrook, Kulveer Mankia, Edward Vital, Andrew Barr, Colin Pease, Helena Marzo‐Ortega, Sarah L. Mackie, Dennis McGonagle   +12 more
wiley   +1 more source