Abstract
Māori and Pacific individuals have a two times greater risk of Type II diabetes (T2D) compared to other population groups in New Zealand. This provides a unique opportunity to explore the hypothesis that some of this risk is attributed to genetic variation.
Genome sequencing of 56 Māori and Pacific individuals led to the identification of a Māori and Pacific-specific non-coding variant, rs150587514 in the first intron of the JAZF1 gene. This variant is common in Māori and Pacific people (minor allele frequency (MAF) of >10%) but uncommon in other population groups (MAF <0.1%). JAZF1 is a gene essential for β-cell function and insulin secretion. Previous unpublished work in 1,821 Māori and Pacific individuals found that the C risk allele conferred a 1.6-fold greater risk of developing T2D compared to those without the risk allele (OR = 1.63 [95% CI 1.27; 2.15], p = 3.9x10-4). The aim of the current work was to validate this association by genotyping an independent cohort of Māori and Pacific individuals to test the replicability of this previously identified association.