Widespread prevalence of a CREBRF variant amongst Maori and Pacific children is associated with weight and height in early childhood

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Investigating a large and ethnically diverse cohort from the Pacific region, we aimed to replicate and extend the recently reported findings that a CREBRF genetic variant is strongly associated with body mass index in Samoans.


A birth cohort of more than six thousand children was utilised. In this study, genotyping of two markers (rs12513649 and rs373863828) was undertaken in Māori, Pacific, European and Asian individuals in the cohort.


We report that these CREBRF genetic variants are not confined to Samoans but are prevalent in all other Pacific populations sampled, including Māori. We found that the rs373863828 variant was significantly associated with growth at 4 years of age. On average, we observed allele-specific increases in weight (P = 0·004, +455 g, s.e. 0.158), height (P = 0·007, +0·70 cm, s.e. 0.26) and waist circumference (P = 0·004, +0·70 cm, s.e. 0.24) at 4 years of age. The rs373863828 variant was not associated with birth weight (P = 0·129).


We replicated the finding that a CREBRF variant is associated with increased body mass. We then built on the original findings by demonstrating the prevalence of the rs12513649 and rs373863828 variants in multiple Pacific population groups and by demonstrating that the rs373863828 variant is associated with growth in early childhood. Pacific population groups experience a disproportionately high burden of obesity, starting in early childhood. This new knowledge offers potential for evidence-based interventions aimed at establishing healthy growth trajectories from the earliest possible age.

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