Article
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells.
Nature genetics - 1 Aug 2018
Thomsen Soren K, Raimondo Anne, Hastoy Benoit, Sengupta Shahana, Dai Xiao-Qing, Bautista Austin, Censin Jenny, Payne Anthony J, Umapathysivam Mahesh M, Spigelman Aliya F, Barrett Amy, Groves Christopher J, Beer Nicola L, Manning Fox Jocelyn E, McCarthy Mark I, Clark Anne, Mahajan Anubha, Rorsman Patrik, MacDonald Patrick E, Gloyn Anna L
Abstract excerpt
The molecular mechanisms underpinning susceptibility loci for type 2 diabetes (T2D) remain poorly understood. Coding variants in peptidylglycine α-amidating monooxygenase (PAM) are associated with both T2D risk and insulinogenic index. Here, we demonstrate that the T2D risk alleles impact negatively on overall PAM activity via defects in expression and catalytic function. PAM deficiency results in reduced insulin...
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