P028: Population-specific structural variation linked to metabolic diseases in people of Pacific ancestry

作者：C.Lynne Littlefield, José M. Lázaro-Guevara, Devorah Stucki, Michael Lansford, Melissa H. Pezzolesi, Emma Taylor, Jacob Taloa, Kime Lao, Justina P. Tavana, William L. Holland, Kalani L. Raphael, Marcus G. Pezzolesi · 发表于：Genetics in Medicine Open · 年份：2025 · DOI：10.1016/j.gimo.2025.102872 · 研究领域：Cardiovascular Health and Risk Factors、Nutritional Studies and Diet

People of Pacific ancestry have been significantly underrepresented in human genomic research, particularly in studies focusing on structural genetic variation. Limited whole-genome sequence data from the Human Genome Diversity Project suggest that individuals from the Pacific region may carry a high number of population-specific structural variants at high frequencies. However, comprehensive studies are still lacking. Studying these high-frequency, population-specific variants offers a unique opportunity to increase the statistical power for detecting disease associations and to uncover novel gene-disease links that may not be apparent in other populations.