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Analysis of Population-specific Copy Number Variation in Native Hawaiians and Pacific Islanders

Semester: Summer 2023

Presentation description

Native Hawaiian and Pacific Islanders (NHPIs) have among the world's highest burden of metabolic disease, including obesity and diabetes, and are at increased risk for other associated comorbidities. Recent studies have revolutionized our understanding of the genetic underpinnings of metabolic disease yet most of these findings come from studies examining individuals of European ancestry. In fact, NHPIs make up <0.1% of participants in metabolic disease-related genome-wide association studies. To begin addressing this knowledge gap, we recently established the Utah Pacific Islander Diabetes Study (UPIDS) and performed Blended Genome-Exome Sequencing in 69 UPIDS participants, including 26 individuals of Tongan ancestry, 25 individuals of Samoan ancestry, and 18 individuals of other Pacific Islander ancestry. As part of this research, we aimed to use this data to identify population-specific copy number variation (CNVs), including deletions and duplications, present among NHPIs and investigate their role in metabolic disease. We anticipate that our findings will aid in understanding the genetic contribution to metabolic disease among NHPIs and may lead to further prevention and improved treatment and health equity for NHPIs at risk of developing metabolic disease.

Presenter Name: Levi Dias
Presentation Type: Poster
Presentation Format: Virtual
Presentation #63
College: Medicine
School / Department: Human Genetics
Research Mentor: Marcus Pezzolesi
Date | Time: Thursday, Aug 3rd | 9:00 AM