Ana Viñuela

MetaboXcan: A multiomic framework linking genetically predicted metabolites, gene expression, and complex traits

Festus Nyasimi, Sarah Sumner, Yanyu Liang, Xianyong Yin et autres

Abstract Genetically regulated molecular phenotypes, such as gene expression and metabolites, are widely thought to mediate the effect of disease-relevant genetic loci identified by genome-wide association studies (GWAS); however, molecular mechanisms connecting genetic variation to disease remain poorly understood. While transcriptome-wide association …

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Context-dependent molecular responses to heterogeneous metabolic disease traits

Theodora-Dafni Michalettou, Sapna Sharma, Natalie N. Atabaki, Juan Fernández‐Tajes et autres

ABSTRACT Metabolic diseases such as type 2 diabetes (T2D) arise through complex interactions between physiological, molecular, and environmental processes. Clinical traits including age, sex, adiposity, and glycaemic status are strongly associated with disease risk and progression, yet most molecular studies examine these …

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Gene expression integration and similarity score–based modeling improve risk stratification in idiopathic venous thrombophilia

Pol Ezquerra Condeminas, Ángel Martínez-Pérez, Cedric Howald, Andrew A. Brown et autres

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A biological-systems-based analysis using proteomic and metabolic network inference reveals mechanistic insights into hepatic steatosis

Natalie N. Atabaki, Daniel Coral, Hugo Pomares-Millan, Kieran Smith et autres

OBJECTIVE: To delineate organ-specific and systemic drivers of metabolic dysfunction-associated steatotic liver disease (MASLD), we applied integrative causal inference across clinical, imaging, and proteomic domains in individuals with and without type 2 diabetes (T2D). METHODS: Bayesian network analyses and complementary two-sample Mendelian …

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Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus

Krista Freimann, Anneke Brümmer, Robert Warmerdam, Tarran S. Rupall et autres

Although genome-wide association studies have provided valuable insights into the genetic basis of complex traits and diseases, translating these findings to causal genes and their downstream mechanisms remains challenging. We performed trans expression quantitative trait locus (trans-eQTL) meta-analysis in 3734 lymphoblastoid cell …

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XBP1 expression in pancreatic islet cells is associated with poor glycaemic control especially in young non-obese onset diabetes across ancestries

Moneeza K. Siddiqui, Théo Dupuis, Ranjit Mohan Anjana, Adem Y. Dawed et autres

Abstract Background Individuals of South and East Asian ancestry have a higher risk of type 2 diabetes, often driven by insulin deficiency due to impaired beta-cell function. The transcription factor XBP1 supports beta-cell survival by reducing cellular stress, but its role in …

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The dynamics of the gut microbiota in prediabetes during a four-year follow-up among European patients—an IMI-DIRECT prospective study

Liwei Lyu, Yong Fan, Josef Korbinian Vogt, Marc Clos‐Garcia et autres

BACKGROUND: Previous case-control studies have reported aberrations of the gut microbiota in individuals with prediabetes. The primary objective of the present study was to explore the dynamics of the gut microbiota of individuals with prediabetes over 4 years with a secondary aim …

dk, fr, se, gb, de, fi, ch, nl, it, cn, si, sg (code pays fourni par la source)

Bayesian network imputation methods applied to multi-omics data identify putative causal relationships in a type 2 diabetes dataset containing incomplete data: An IMI DIRECT Study

Richard Howey, Jonathan Adam, Jerzy Adamski, Natalie N. Atabaki et autres

Here we report the results from exploratory analysis using a Bayesian network approach of data originally derived from a large North European study of type 2 diabetes (T2D) conducted by the IMI DIRECT consortium. 3029 individuals (795 with T2D and 2234 without) …

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A Biological-Systems-Based Analyses Using Proteomic and Metabolic Network Inference Reveals Mechanistic Insights into Hepatic Lipid Accumulation: An IMI-DIRECT Study

Natalie N. Atabaki, Daniel Coral, Hugo Pomares-Millan, K. Smith et autres

Objective: To delineate organ-specific and systemic drivers of metabolic dysfunction-associated steatotic liver disease (MASLD), we applied integrative causal inference across clinical, imaging, and proteomic domains in individuals with and without type 2 diabetes (T2D). Research Design and Methods: We used Bayesian network …

dk, se, gb, us, it, nl, de, fi, si, sg, ch (code pays fourni par la source)

Genetic Landscape of the ACE2 Coronavirus Receptor

Lars Lind, Kejun Ying, Laura M. Raffield, Erin Macdonald-Dunlop et autres

BACKGROUND: SARS-CoV-2, the causal agent of COVID-19, enters human cells using the ACE2 (angiotensin-converting enzyme 2) protein as a receptor. ACE2 is thus key to the infection and treatment of the coronavirus. ACE2 is highly expressed in the heart and respiratory and …

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Differential Expression Analyses on Human Aortic Tissue Reveal Novel Genes and Pathways Associated With Abdominal Aortic Aneurysm Onset and Progression

Gerard Temprano‐Sagrera, Olga Peypoch, Beatriz Beseler Soto, Jaume Dilmé et autres

Background Abdominal aortic aneurysms (AAAs) are focal dilatations of the abdominal aorta that expand progressively, increasing their risk of rupture. Rupture of an AAA is associated with high mortality rates, but the mechanisms underlying the initiation, expansion, and rupture of AAAs are …

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Impact of sample size and tissue relevance on T2D gene identification

David Davtian, T Dupuis, D Mansour Aly, Naeimeh Atabaki‐Pasdar et autres

Abstract Identification of genes and proteins mediating the activity of GWAS variants requires molecular data from disease relevant tissues, but these may be difficult to collect. Using multiple gene expression reference datasets and GWAS summary statistics for T2D we identified 1,818 unique …

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