PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development

• Main Authors: Lau, Hwee Hui, Krentz, Nicole A. J., Abaitua, Fernando, Perez-Alcantara, Marta, Chan, Jun-Wei, Ajeian, Jila, Ghosh, Soumita, Lee, Yunkyeong, Yang, Jing, Thaman, Swaraj, Champon, Benoite, Sun, Han, Jha, Alokkumar, Hoon, Shawn, Tan, Nguan Soon, Gardner, Daphne Su-Lyn, Kao, Shih Ling, Tai, E Shyong, Gloyn, Anna L., Teo, Adrian Kee Keong
• Other Authors: School of Biological Sciences
• Format: Article
• Language: English
• Published: 2024
• Subjects: Medicine, Health and Life Sciences; Glucagon; Hemoglobin A1c
• Online Access: https://hdl.handle.net/10356/173811
• Institution: Nanyang Technological University

The coding variant (p.Arg192His) in the transcription factor PAX4 is associated with an altered risk for type 2 diabetes (T2D) in East Asian populations. In mice, Pax4 is essential for beta cell formation but its role on human beta cell development and/or function is unknown. Participants carrying t...