Publications by Christian Axel Wandall Thorball

Untargeted Metabolite Profile Associations with Body Mass Index, Waist-Hip Ratio, and Antiretroviral Therapy in &gt;1300 People with HIV: the Swiss HIV Cohort Study

Background Obesity is a major concern in people with HIV (PWH). How obesity and antiretroviral therapy (ART) are associated with specific metabolite profiles in PWH is not well described. Methods We included Swiss HIV Cohort Study participants aged ≥45 yea ...

Oxford University Press (OUP)2025

Low Trauma Fractures in People with Hiv: Longitudinal Time Trends in the Swiss Hiv Cohort Study, 2009-2022

Jacques Fellay, Christian Axel Wandall Thorball

Background People with human immunodeficiency virus (HIV) are at increased risk of low trauma fractures (LTFs). Published data on LTF incidence trends over time have not been uniform. This study sought to analyze LTF time trends in the Swiss HIV Cohort Stu ...

OXFORD UNIV PRESS INC2025

Polygenic Risk Scores for Type 2 Diabetes in the Swiss HIV Cohort Study

Jacques Fellay, Christian Axel Wandall Thorball

Background.Type 2 diabetes (T2D) is among the most frequent comorbidities in people with HIV (PWH) and occurs more often in PWH than in people without HIV. Polygenic risk scores (PRS) can be used to summarize the genetic risk for T2D, but it is unknown to ...

Ovid Technologies (Wolters Kluwer Health)2025

Prevalence of actionable pharmacogenetic variants in a Swiss hospital cohort

Jacques Fellay, Flavia Aurelia Shoko Hodel, Christian Axel Wandall Thorball, Maria De Min

Springernature2024

Prevalence of actionable pharmacogenetic variants and high-risk drug prescriptions: A Swiss hospital-based cohort study

Jacques Fellay, Flavia Aurelia Shoko Hodel, Christian Axel Wandall Thorball

Drug type and dosing recommendation have been designed and optimized based on average response in the general population. Yet, there is significant inter-individual variability in drug response, which results in treatment inefficacy or adverse drug reactio ...

WILEY2024

Leukocyte Count and Coronary Artery Disease Events in People With Human Immunodeficiency Virus: A Longitudinal Study

Jacques Fellay, Christian Axel Wandall Thorball

Leukocyte count is associated with coronary artery disease (CAD) events in the general population. Here we show that leukocytes are independently associated with CAD events in people with HIV in Switzerland, after adjusting for traditional and HIVrelated r ...

OXFORD UNIV PRESS INC2023

Predicting type 2 diabetes risk before and after solid organ transplantation using polygenic scores in a Danish cohort

Jacques Fellay, Christian Axel Wandall Thorball

Type 2 diabetes mellitus (T2DM) can be multifactorial where both genetics and environmental factors play a role. We aimed to investigate the use of polygenic risk scores (PRS) in the prediction of pre-transplant T2DM and post-transplant diabetes mellitus ( ...

Frontiers Media Sa2023

Associations of genetic and infectious risk factors with coronary heart disease

Roxane De La Harpe, Jacques Fellay, Flavia Aurelia Shoko Hodel, Christian Axel Wandall Thorball, Zhi Ming Xu

Coronary heart disease (CHD) is one of the most pressing health problems of our time and a major cause of preventable death. CHD results from complex interactions between genetic and environmental factors. Using multiplex serological testing for persistent ...

eLIFE SCIENCES PUBL LTD2023

Association of a Polygenic Risk Score With Osteoporosis in People Living With HIV: The Swiss HIV Cohort Study

Jacques Fellay, Christian Axel Wandall Thorball

An individual polygenic risk score was associated with osteoporosis in people living with HIV. The genetic effect was robust, as it persisted after multivariable adjustment for established traditional and HIV-related osteoporosis risk factors, including te ...

OXFORD UNIV PRESS INC2023

Epigenetic ageing accelerates before antiretroviral therapy and decelerates after viral suppression in people with HIV in Switzerland: a longitudinal study over 17 years

Jacques Fellay, Christian Axel Wandall Thorball

Background Accelerated epigenetic ageing can occur in untreated HIV infection and is partially reversible with effective antiretroviral therapy (ART). We aimed to make a long-term comparison of epigenetic ageing dynamics in people with HIV during untreated ...

ELSEVIER2023

Combining European and US risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study

Stéphane Fournier, Roxane De La Harpe, Jacques Fellay, Christian Axel Wandall Thorball

Lay Summary The aim of this study is to determine whether using polygenic risk scores improves the prediction of atherosclerotic cardiovascular disease risk when combined with clinical scores currently recommended by European and US guidelines on cardiovas ...

OXFORD UNIV PRESS2023

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Jacques Fellay, Christian Axel Wandall Thorball, Alessandro Borghesi, Qian Zhang, Peng Zhang, Yu Zhang

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs) 1,2 , conferring a predisposition to life-threatening COVID-19 pneumonia 3 . ...

Nature Portfolio2023

A polygenic risk score improves the prediction of cardiovascular risk associated with obstructive sleep-apnoea

Jacques Fellay, Christian Axel Wandall Thorball, Mathieu Berger

Springernature2023

A polygenic risk score to predict sudden cardiac arrest in patients with cardiovascular disease

Aurélien Thomas, Etienne Pruvot, Jacques Fellay, Christian Axel Wandall Thorball, Olivier Muller

London2023

Genetic features and genomic targets of human KRAB-zinc finger proteins

Didier Trono, Priscilla Turelli, Julien Léonard Duc, Sandra Eloise Kjeldsen, Jonas Caspar De Tribolet-Hardy, Bara Khubieh, Jacques Fellay, Michaël Imbeault, Alexandre Coudray, Cyril David Son-Tuyên Pulver, Evaristo Jose Planet Letschert, Christian Axel Wandall Thorball, Romain Forey

Krüppel-associated box (KRAB) domain-containing zinc finger proteins (KZFPs) are one of the largest groups of transcription factors encoded by tetrapods, with 378 members in human alone. KZFP genes are often grouped in clusters reflecting amplification by ...

2023

A metagenome-wide association study of HIV disease progression in HIV controllers

Jacques Fellay, Christian Axel Wandall Thorball

Some HIV controllers experience immunologic progression with CD4(+) T cell decline. We aimed to identify genetic factors associated with CD4(+) T cell lost in HIV controllers. A total of 561 HIV controllers were included, 442 and 119 from the International ...

CELL PRESS2023

Africa-specific human genetic variation near CHD1L associates with HIV-1 load

Jacques Fellay, Istvan Bartha, Christian Axel Wandall Thorball

HIV-1 remains a global health crisis(1), highlighting the need to identify new targets for therapies. Here, given the disproportionate HIV-1 burden and marked human genome diversity in Africa(2), we assessed the genetic determinants of control of set-point ...

NATURE PORTFOLIO2023

Host genomics of SARS-CoV-2 infection

Jacques Fellay, Christian Axel Wandall Thorball

SARS-CoV-2 infected a large fraction of humans in the past 2 years. The clinical presentation of acute infection varies greatly between individuals, ranging from asymptomatic or mild to life-threatening COVID-19 pneumonia with multi-organ complications. De ...

SPRINGERNATURE2022

Variability of Primary Sjogren's Syndrome Is Driven by Interferon alpha and Interferon alpha Blood Levels Are Associated With the Class II HLA-DQ Locus

Nicolas Meyer, Jacques Fellay, Christian Axel Wandall Thorball

Objective Primary Sjogren's syndrome (SS) is the second most frequent systemic autoimmune disease, affecting 0.1% of the general population. To characterize the molecular and clinical variabilities among patients with primary SS, we integrated transcriptom ...

WILEY2022

A Phylogeny-aware GWAS Framework to Correct for Heritable Pathogen Effects on Infectious Disease Traits

Jacques Fellay, Christian Axel Wandall Thorball

Infectious diseases are particularly challenging for genome-wide association studies (GWAS) because genetic effects from two organisms (pathogen and host) can influence a trait. Traditional GWAS assume individual samples are independent observations. Howev ...

OXFORD UNIV PRESS2022