rs10508313 - LINP1

Magnitude 2.0 · 1 study on file

Reported associations

• Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis. - Rheumatology (Oxford, England) (2022) · Carmona EG, García-Giménez JA, López-Mejías R, Khor CC, Lee JK, Taskiran E, Ozen S, Hocevar A, Liu L, Gorenjak M, Potočnik U, Kiryluk K, Ortego-Centeno N, Cid MC, Hernández-Rodríguez J, Castañeda S, González-Gay MA, Burgner D, Martín J, Márquez A · PubMed 33993232

  Combining of genomic data of different pathologies as a single phenotype has emerged as a useful strategy to identify genetic risk loci shared among immune-mediated diseases. Our study aimed to increase our knowledge of the genetic contribution to Kawasaki disease (KD) and IgA vasculitis (IgAV) by performing the first comprehensive large-scale analysis on the genetic overlap between them. A total of 1190 vasculitis patients and 11 302 healthy controls were analysed. First, in the discovery phase, genome-wide data of 405 KD patients and 6252 controls and 215 IgAV patients and 1324 controls, all of European origin, were combined using an inverse variance meta-analysis. Second, the top associated polymorphisms were selected for replication in additional independent cohorts (570 cases and 3726

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.