Genetic insights into metabolic traits in pacific islanders: variants in FTO, CREBRE, BTNL9, and ASAH2

Publication Type honors thesis
School or College School of Biological Sciences
Department Biology
Faculty Mentor Marcus G. Pezzolesi
Creator Swiderski, Sydney
Title Genetic insights into metabolic traits in pacific islanders: variants in FTO, CREBRE, BTNL9, and ASAH2
Date 2025
Description Metabolic disease disproportionately affects Pacific Islander populations, who remain underrepresented in genetic research. This study investigates associations between genetic variants in four genes (FTO, CREBRF, BTNL9, and ASAH2) and five metabolic traits (BMI, HDL-C, LDL-C, triglycerides, and total cholesterol) across three Pacific Islander cohorts: Native Hawaiians in the Population Architecture using Genomics and Epidemiology Multi Ethnic Cohort (PAGE-MEC) study, Samoan individuals in the Samoan Adiposity Study (SAS), and Utah-based Pacific Islanders from the Utah Pacific Islander Diabetes Study (UPIDS) cohort. Association testing was performed separately by cohort using linear regression models with age, sex, and principal components as covariates. Bonferroni correction was applied to account for multiple testing. Significant associations were detected in the SAS and PAGE-MEC cohorts. In SAS, the CREBRF variant was associated with higher BMI and lower total cholesterol, while the BTNL9 variant was associated with lower HDL-C and elevated triglycerides. In PAGEMEC, significant associations were observed between CREBRF and BMI as well as FTO and BMI. No statistically significant associations were found in UPIDS. The ASAH2 variant did not yield significant results in any cohort. These findings replicate previous associations, extend them to additional cohorts, and highlight the value of studying underrepresented populations to better understand the genetic architecture of metabolic disease.
Type Text
Publisher University of Utah
Subject CREBRF; total cholesterol
Language eng
Rights Management (c) Sydney Swiderski
Format Medium application/pdf
ARK ark:/87278/s6ftfsdh
Setname ir_htoa
ID 2918016
Reference URL https://collections.lib.utah.edu/ark:/87278/s6ftfsdh