Oral Presentation ESA-SRB-APEG-NZSE 2022

THE METABOLIC EFFECTS OF A CREBRF GENE VARIANT IN NEW ZEALAND WOMEN (#200)

Patricia Whitfield 1 2 , Danielle Sword 1 , Ana Holley 1 , Emily Walsh 2 , Mark Weatherall 1 , Peter R Shepherd 3 4 , Troy L Merry 3 5 , Rosemary M Hall 1 2 , Jeremy D Krebs 1 2
  1. Department of Medicine, University of Otago, Wellington
  2. Centre for Endocrine, Diabetes and Obesity Research, Te Whatu Ora, Capital, Coast and Hutt Valley
  3. Maurice Wilkins Centre for Molecular Biodiscovery, The University of Auckland, Auckland
  4. Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland
  5. Discipline of Nutrition, Faculty of Medical and Health Sciences, University of Auckland , Auckland

An Arg457Gln missense variant in the CREBRF gene (rs373863828) is prevalent in Polynesian (Aotearoa New Zealand Māori and Pacific) populations but rare in other ethnic groups.  The A (minor) allele of this variant is associated with increased BMI, but paradoxically reduced risk of Type 2 diabetes mellitus (T2DM) and gestational diabetes mellitus (GDM).  rs373863828-A is associated with increased glucose-stimulated insulin release in response to a meal in NZ Māori and Pacific men, however, a similar effect has not been investigated in women.  This presentation will discuss what we know about the rs373863828-A variant so far and presents preliminary data from our recent work on the metabolic effects of rs373863828-A in NZ women.