The paper investigates the association between menopause and XCI-skew in females, finding early surgical menopause and low testosterone polygenic scores increase XCI-skew risk.

medRxiv · Apr 22, 2026 · PreprintGenetic & Genomic Medicine

Translational toolkit for reproducible, cross-study profiling of human ageing hallmarks in human blood and tissue

Kristina Tomkova, Jonathan W. Lewis, Thomas A. Nicholson, Animesh Acharjee, Aidan Anderson, Jonathan P. Barlow, Kathryn Frost, Thomas Jackson, João Pedro Magalhaes, Sudip Mondal, Amy J. Naylor, Aline Nixon, Nicholas J. W. Rattray, Paula Rudzinska, Amanda Veiga Sardeli, , Helen Michelle McGettrick

The paper develops a toolkit to measure multiple ageing hallmarks in human blood and tissue samples, identifying age-related changes in immune cells, senescence, and mitochondrial function.

bioRxiv · Apr 22, 2026 · PreprintImmunology

Reconstructing N-Glycan Profiles of Individual Glycoproteins from the Total Blood Plasma N-Glycome: Implications for Immunoglobulin G N-Glycosylation GWAS

Anna G. Soplenkova, Denis E. Maslov, Anna N. Timoshchuk, Domagoj Kifer, Ana Cvetko, Michel Georges, Claire Joanne Steves, Cristina Menni, Sodbo Sharapov, Gordan Lauc, Yurii S. Aulchenko

The paper reconstructs IgG-specific N-glycan profiles from total plasma N-glycome data, identifies known and novel loci associated with IgG N-glycosylation, and enables meta-analyses without new samples.

bioRxiv · Feb 2, 2026 · PreprintGenetics

ESPClust: Unsupervised identification of modifiers for the effect size profile in omics association studies

Francisco J. Pérez‐Reche, Nathan J. Cheetham, Ruth C. E. Bowyer, Ellen J. Thompson, Francesca Tettamanzi, Cristina Menni, Claire Joanne Steves

ESPClust identifies covariates modifying effect sizes in omics association studies, revealing subpopulations with distinct associations.

Bioinformatics · Feb 1, 2025Peer-reviewedBioinformatics

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss

Morag A. Lewis, Jennifer Schulte, Lois J. Matthews, Kenneth I. Vaden, Claire Joanne Steves, Frances M. K. Williams, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel

PLoS Genetics · Nov 27, 2023Peer-reviewedGenetic & Genomic Medicine

Age acquired skewed X Chromosome Inactivation is associated with adverse health outcomes in humans

Amy L. Roberts, Alessandro Morea, Ariella Amar, Antonino Zito, Julia S. El-Sayed Moustafa, Max Tomlinson, Ruth C. E. Bowyer, Xinyuan Zhang, Colette Christiansen, Ricardo Costeira, Claire Joanne Steves, Massimo Mangino, Jordana T. Bell, Chloe C. Y. Wong, Timothy James Vyse, Kerrin S. Small

This study shows that age-related skewed X chromosome inactivation in females is linked to increased cardiovascular disease risk and cancer incidence.

eLife · Nov 1, 2022Peer-reviewedGenetic & Genomic Medicine

ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

Julia S. El-Sayed Moustafa, Anne Jackson, Sarah M. Brotman, Li Guan, Sergio Villicaña, Amy L. Roberts, Antonino Zito, Lori L. Bonnycastle, Michael R. Erdos, Narisu Narisu, Heather M. Stringham, Ryan Welch, Tingfen Yan, Timo Antero Lakka, Stephen C.J. Parker, , Kerrin S. Small

The paper examines the association between adipose tissue ACE2 expression and cardio-metabolic risk factors, finding lower ACE2 levels linked to T2D, obesity, and inflammation-related cell type changes.

International Journal of Obesity · May 19, 2022Peer-reviewedGenetic & Genomic Medicine

Large-scale association analyses identify host factors influencing human gut microbiome composition

Alexander Kurilshikov, Carolina Medina‐Gómez, Rodrigo Bacigalupe, Djawad Radjabzadeh, Jun Wang, Ayşe Demirkan, Caroline Ivanne Le Roy, Juan A. Raygoza Garay, Casey T. Finnicum, Xingrong Liu, Daria V. Zhernakova, Marc Jan Bonder, Tue H. Hansen, Fabian Frost, Malte Christoph Rühlemann, , Oluf Borbye Pedersen

The paper identifies 31 host genetic loci influencing gut microbiome composition through GWAS and suggests causal effects in inflammatory diseases.

Nature Genetics · Jan 18, 2021Peer-reviewedGenetics

Self-reported symptoms of covid-19 including symptoms most predictive of SARS-CoV-2 infection, are heritable

Frances M. K. Williams, Maxim B. Freidin, Massimo Mangino, Simon Couvreur, Alessia Visconti, Ruth C. E. Bowyer, Caroline Ivanne Le Roy, Mario Falchi, Olatz Mompeó, Carole H. Sudre, Richard Davies, Christopher J. Hammond, Cristina Menni, Claire Joanne Steves, Tim D. Spector

The paper identifies heritable symptoms of SARS-CoV-2 infection using twin studies of self-reported symptoms from the TwinsUK cohort.

Twin Research and Human Genetics · Dec 1, 2020Peer-reviewedGenetic & Genomic Medicine

M2IA: a Web Server for Microbiome and Metabolome Integrative Analysis

Yan Ni, Gang Yu, Huan Chen, Yongqiong Deng, Philippa M. Wells, Claire Joanne Steves, Feng Ju, Junfen Fu

M2IA is a web server that integrates microbiome and metabolome data to identify pathways linked to obesity using TwinsUK cohort data.

Bioinformatics · Mar 13, 2020Peer-reviewedBioinformatics

Introducing ExHiBITT - Exploring Host microbiome inTeractions in Twins-, a colon multiomic cohort study

Marina Mora-Ortiz, Hajir Ibraheim, Sherine Hermangild Kottoor, Ruth C. E. Bowyer, Sarah Metrustry, Jeremy David Sanderson, Nick Powell, Tim D. Spector, Kerrin S. Small, Claire Joanne Steves

The paper introduces ExHiBITT, a colon multiomic cohort study of twins, describing its characteristics and initial findings on polyps, diverticulosis, and their associations with BMI and age.

Wellcome Open Research · Feb 13, 2020Peer-reviewedSystems Biology

Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels

Abhishek Nag, Yuko Kurushima, Ruth C. E. Bowyer, Philippa M. Wells, Stefan Weiß, Maik Pietzner, Thomas Kocher, Johannes Raffler, Uwe Völker, Massimo Mangino, Tim D. Spector, Michael V. Milburn, Gabi Kastenmüller, Robert P. Mohney, Karsten Suhre, , Claire Joanne Steves

This study identifies 11 genetic loci associated with salivary metabolites in 1,419 individuals, revealing novel saliva-specific associations and potential clinical applications.

Human Molecular Genetics · Jan 17, 2020Peer-reviewedGenetics

Epigenetic findings in periodontitis in UK twins: a cross sectional study

Yuko Kurushima, Pei-Chien Tsai, Juan Castillo Fernandez, Alexessander Couto Alves, Julia S. El-Sayed Moustafa, Caroline Ivanne Le Roy, Tim D. Spector, Mark Ide, Francis J. Hughes, Kerrin S. Small, Claire Joanne Steves, Jordana T. Bell

This study identifies DNA methylation changes in blood and tissue samples associated with periodontal disease in older female twins.

Clinical Epigenetics · Feb 13, 2019Peer-reviewedGenomics