eCite Digital Repository

Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan


Hansen, RL and Safabakhsh, S and Curtis, JM and Hsueh, W-C and Jones, LI and Aflague, TF and Duenas Sarmiento, J and Kumar, S and Blackburn, NB and Curran, JE and Mahkee, D and Baier, LJ and Knowler, WC and Nelson, RG, Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan, Diabetologia, 62, (9) pp. 1647-1652. ISSN 0012-186X (2019) [Refereed Article]

Copyright Statement

This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2019

DOI: doi:10.1007/s00125-019-4932-z


Aims/hypothesis: Variants in CREBRF (rs12513649 and rs373863828) have been strongly associated with increased BMI and decreased risk of type 2 diabetes in Polynesian populations; the A allele at rs373863828 is common in Polynesians but rare in most other global populations. The aim of the present study was to assess the association of CREBRF variants with obesity and diabetes in Pacific Islander (largely Marianas and Micronesian) populations from Guam and Saipan.

Methods: CREBRF rs12513649 and rs373863828 were genotyped in 2022 participants in a community-based cross-sectional study designed to identify determinants of diabetes and end-stage renal disease (ESRD). Associations were analysed with adjustment for age, sex, ESRD and the first four genetic principal components from a genome-wide association study (to account for population stratification); a genomic control procedure was used to account for residual stratification.

Results: The G allele at rs12513649 had an overall frequency of 7.7%, which varied from 2.2% to 20.7% across different Marianas and Micronesian populations; overall frequency of the A allele at rs373863828 was 4.2% (range: 1.1-5.4%). The G allele at rs12513649 was associated with higher BMI (β = 1.55 kg/m2 per copy; p = 0.0026) as was the A allele at rs373863828 (β = 1.48 kg/m2, p = 0.033). The same alleles were associated with lower risk of diabetes (OR per copy: 0.63 [p = 0.0063] and 0.49 [p = 0.0022], respectively). Meta-analyses combining the current results with previous results in Polynesians showed a strong association between the A allele at rs373863828 and BMI (β = 1.38 kg/m2; p = 2.5 10-29) and diabetes (OR 0.65, p = 1.5 10-13).

Conclusions/interpretation: These results confirm the associations of CREBRF variants with higher BMI and lower risk of diabetes and, importantly, they suggest that these variants contribute to the risk of obesity and diabetes in Oceanic populations.

Item Details

Item Type:Refereed Article
Keywords:Polynesia, diabetes, obesity, genetics
Research Division:Biological Sciences
Research Group:Bioinformatics and computational biology
Research Field:Statistical and quantitative genetics
Objective Division:Health
Objective Group:Public health (excl. specific population health)
Objective Field:Overweight and obesity
UTAS Author:Blackburn, NB (Dr Nicholas Blackburn)
ID Code:144991
Year Published:2019
Web of Science® Times Cited:15
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-06-23
Last Modified:2021-09-29

Repository Staff Only: item control page