rs113336767 - MAP2K3 - KCNJ12

Magnitude 2.0 · 1 study on file

Reported associations

• Pharmacogenomics of intravenous immunoglobulin response in Kawasaki disease - Frontiers in immunology (2024) · Shrestha S, Wiener HW, Kajimoto H, Srinivasasainagendra V, Ledee D, Chowdhury S, Cui J, Chen JY, Beckley MA, Padilla LA, Dahdah N, Tiwari HK, Portman MA · PubMed 38259468

  ABSTRACT: Introduction Kawasaki disease (KD) is a diffuse vasculitis in children. Response to high dose intravenous gamma globulin (IVIG), the primary treatment, varies according to genetic background. We sought to identify genetic loci, which associate with treatment response using whole genome sequencing (WGS). Method We performed WGS in 472 KD patients with 305 IVIG responders and 167 non-responders defined by AHA clinical criteria. We conducted logistic regression models to test additive genetic effect in the entire cohort and in four subgroups defined by ancestry information markers (Whites, African Americans, Asians, and Hispanics). We performed functional mapping and annotation using FUMA to examine genetic variants that are potentially involved IVIG non-response. Further, we conduc

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