Article
Loss of ZnT8 function protects against diabetes by enhanced insulin secretion.
Nature genetics - 1 Nov 2019
Dwivedi Om Prakash, Lehtovirta Mikko, Hastoy Benoit, Chandra Vikash, Krentz Nicole A J, Kleiner Sandra, Jain Deepak, Richard Ann-Marie, Abaitua Fernando, Beer Nicola L, Grotz Antje, Prasad Rashmi B, Hansson Ola, Ahlqvist Emma, Krus Ulrika, Artner Isabella, Suoranta Anu, Gomez Daniel, Baras Aris, Champon Benoite, Payne Anthony J, Moralli Daniela, Thomsen Soren K, Kramer Philipp, Spiliotis Ioannis, Ramracheya Reshma, Chabosseau Pauline, Theodoulou Andria, Cheung Rebecca, van de Bunt Martijn, Flannick Jason, Trombetta Maddalena, Bonora Enzo, Wolheim Claes B, Sarelin Leena, Bonadonna Riccardo C, Rorsman Patrik, Davies Benjamin, Brosnan Julia, McCarthy Mark I, Otonkoski Timo, Lagerstedt Jens O, Rutter Guy A, Gromada Jesper, Gloyn Anna L, Tuomi Tiinamaija, Groop Leif
Abstract excerpt
A rare loss-of-function allele p.Arg138* in SLC30A8 encoding the zinc transporter 8 (ZnT8), which is enriched in Western Finland, protects against type 2 diabetes (T2D). We recruited relatives of the identified carriers and showed that protection was associated with better insulin secretion due to enhanced glucose responsiveness and proinsulin conversion, particularly when compared with individuals matched for...
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