Spondyloarthritis is a common chronic inflammatory rheumatic disease with a strong genetic component with over 50 susceptibility loci already identified. How these variants confer disease predisposition is however poorly understood. Convergent data suggest a role of regulatory variants in disease susceptibility.
The aim of my project is to identify regulatory variants associated with SpA susceptibility and to characterize the molecular mechanisms through which these variants modulate gene expression. A functional genomics approach will be used to achieve this goal. First, we will identify regulatory variants through eQTL mapping in cell types relevant for SpA pathogenesis then integrate the results with epigenetic marks to prioritize candidate variants to be characterized by functional assays.
As a rheumatologist, I have a longstanding interest in spondyloarthritis, a chronic disease which affects young people with a high impact on their quality of life. Since obtaining my MD, I have been practicing as an Assistant Professor in the Rheumatology Department of University Hospital Ambroise Paré in Paris. Concomitantly, I obtained a PhD in Genetics from Paris-Descartes University in 2013 and have integrated the “Infection and Inflammation” research unit at Versailles University. I recently joined the Julian Knight group at Wellcome Trust Centre for Human Genetics for a one year collaborative project investigating the role of regulatory variants in spondyloarthritis.
- Genetics and Functional Genomics of Spondyloarthritis. Costantino et al. (2018) Front Immunol, 9:2933.
- Radiographic Sacroiliitis Develops Predictably over Time in a Cohort of Familial Spondyloarthritis Followed Longitudinally. Costantino et al. (2017) Rheumatology, 56:811-817
- A family-based genome-wide association study reveals an association of spondyloarthritis with MAPK14. Costantino et al. (2017) Ann Rheum Dis, 76:310-314.
- Whole-genome single nucleotide polymorphism-based linkage analysis in spondyloarthritis multiplex families reveals a new susceptibility locus in 13q13. Costantino et al. (2016) Ann Rheum Dis, 75, 1380-1385.
- Two Phenotypes are Identified by Cluster Analysis in Early Inflammatory Back Pain Suggestive of Spondyloarthritis. Results from the Desir Cohort. Costantino et al. (2016) Arthritis Rheumatol, 68:1660-1668.
- ERAP1 gene expression is influenced by non-synonymous polymorphisms associated with predisposition to spondyloarthritis. Costantino et al. (2015) Arthritis Rheumatol, 67, 1525-1534.
- Monocyte-derived dendritic cells from HLA-B27+ axial spondyloarthritis patients display altered functional capacity and deregulated gene expression. Talpin et al. (2014) Arthritis Res Ther, 16:417.
- Prevalence of spondyloarthritis in reference to HLA-B27 in the French population: results of the GAZEL cohort. Costantino et al. (2015) Ann Rheum Dis, 74:689-93.
- The IL23R nonsynonymous polymorphism rs11209026 is associated with radiographic sacroiliitis in spondyloarthritis. Kadi et al. (2013) Arthritis Rheum, 65:2655–60.