Presentation description

Native Hawaiians and Pacific Islanders (NHPIs) make up 1.6 percent of Utah's population but have double the rate of type 2 diabetes and 2.5 times the diabetes mortality rate of White Utahns. This disparity highlights the need for more focused research on NHPIs, who have been underrepresented in human genomic studies. To better understand this disparity, we leveraged whole-genome sequence data to investigate monogenic diabetes genes in the NHPI community. We studied 200 NHPI participants, examining 65 monogenic diabetes genes to identify population-specific variants. To analyze the data, we used bcftools to process variant calls, extracting information on the number of variants and functional variants within each gene. After identifying the number of functional variants, we further filtered for pathogenic variants as assessed using the CADD (Combined Annotation Dependent Depletion) score, which predicts the deleteriousness of single nucleotide variants (SNVs) and insertion/deletion variants (indels) in the human genome. We then compared the frequency of these variants in our NHPI cohort to those in GnomAD, a population-based database of genetic variation across diverse ancestral populations. Notably, GnomAD lacks representation from individuals of NHPI descent, allowing us to infer that any unmatched variants are likely unique to the NHPI population. While exploring diet and lifestyle of the NHPI community could offer insights into diabetes prevention, our research on monogenic diabetes gene variants not only enhances the representation of NHPI in genomic research but also advances our understanding of genetic factors that could contribute to diabetes risk in NHPI.