Joshua Chiou

Jul 30, 2024 | nature.com | Joshua Chiou |Saori Sakaue |Stephen Christensen |Soumya Raychaudhuri

AbstractGenetic variation in the human leukocyte antigen (HLA) loci is associated with risk of immune-mediated diseases, but the molecular effects of HLA polymorphism are unclear. Here we examined the effects of HLA genetic variation on the expression of 2940 plasma proteins across 45,330 Europeans in the UK Biobank, with replication analyses across multiple ancestry groups.

Mar 31, 2024 | biorxiv.org | Jeffrey Okamoto |Xianyong Yin |Joshua Chiou |Brady Ryan

AbstractWe present multi-integration of transcriptome-wide association studies and colocalization (Multi-INTACT), an algorithm that models multiple gene products (e.g. encoded RNA transcript and protein levels) to implicate causal genes and relevant gene products. In simulations, Multi-INTACT achieves higher power than existing methods, maintains calibrated false discovery rates, and detects the true causal gene product(s).

May 25, 2023 | nature.com | Joshua Chiou |Jee Yun Han |Nikita Kadakia |Joan Camunas-Soler |Theodore dos Santos |Seung K. Kim | +2 more

AbstractDysfunctional pancreatic islet beta cells are a hallmark of type 2 diabetes (T2D), but a comprehensive understanding of the underlying mechanisms, including gene dysregulation, is lacking. Here we integrate information from measurements of chromatin accessibility, gene expression and function in single beta cells with genetic association data to nominate disease-causal gene regulatory changes in T2D.