Martin Kerick

Oct 29, 2024 | acrjournals.onlinelibrary.wiley.com | Javier Martinez‐Lopez |Martin Kerick |Guillermo Barturen |Lorenzo Beretta |Isabel Almeida |Lourdes Ortiz‐Fernandez | +4 more

INTRODUCTION Systemic sclerosis (SSc) is a rare immune-mediated inflammatory disease (IMID) characterized by immune dysregulation, vasculopathy, and cutaneous and internal fibrosis.1 SSc is an heterogeneous disorder affecting the connective tissue from which patients can be classified based on the extension of fibrosis as having limited cutaneous SSc (lcSSc) or diffuse cutaneous SSc or by their serological status.2 Recent genome-wide association studies (GWASs) have identified multiple...

Jul 15, 2024 | nature.com | Olivia Castellini-Pérez |Guillermo Barturen |Martin Kerick |Raúl López-Domínguez |Javier Martin |Javier Martín | +3 more

AbstractThe heterogeneity of systemic lupus erythematosus (SLE) can be explained by epigenetic alterations that disrupt transcriptional programs mediating environmental and genetic risk. This study evaluated the epigenetic contribution to SLE heterogeneity considering molecular and serological subtypes, genetics and transcriptional status, followed by drug target discovery.

May 8, 2024 | thelancet.com | S List |Biomedicine Lopez-Neyra |Martin Kerick |José Hernández-Rodríguez

Research in contextEvidence before this studyGiant cell arteritis is an immune-mediated inflammatory disease with a strong genetic component that remains poorly understood. Our incomplete understanding of the pathogenesis of this chronic large-vessel vasculitis limits our ability to identify new therapeutic targets, biomarkers, and preventive strategies.

Feb 16, 2023 | ard.bmj.com | Lourdes Ortiz-Fernández |Elio G Carmona |Martin Kerick |Paul Lyons

Cross-phenotype meta-analysisSummary statistics data of a total of 8467 patients diagnosed with any of the 8 types of vasculitis comprised in the current study and 29 795 healthy individuals were included in the analysis. After cross-disease meta-analysis and excluding the HLA region, 85 genetic variants at 12 genomic regions were associated with two or more vasculitides at the genome-wide level of significance (figure 1).