This study examines the effect of a population-specific variant on gene expression in adipose tissue of Samoan adults, identifying 22 differentially expressed genes.

medRxiv · Sep 22, 2026 · PreprintGenetic & Genomic Medicine

Structural Variant Imputation in Samoans Using a Population-Specific Reference Panel

Lauren M. Spor, Emily Liau, Alba Sanchis‐Juan, Andrew N. Silva, Hong Cheng, Take K. Naseri, Muagututi‘a Sefuiva Reupena, Satupaitea Viali, John Tuitele, Erin E. Kershaw, Ranjan Deka, Nicola L. Hawley, Stephen T. McGarvey, Daniel E. Weeks, Jenna C. Carlson, , Ryan L. Minster

The paper imputes structural variants and SNVs in Samoans using a population-specific reference panel, showing improved imputation performance compared to multi-ancestry panels.

medRxiv · Jul 10, 2026 · PreprintGenetic & Genomic Medicine

A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles

Jenna C. Carlson, Mohanraj Krishnan, Samantha L. Rosenthal, Emily M. Russell, Jerry Z. Zhang, Nicola L. Hawley, Jaye Moors, Hong Cheng, Nicola Dalbeth, Janak de Zoysa, Huti Watson, Muhammad Qasim, Rinki Murphy, Take K. Naseri, Muagututi‘a Sefuiva Reupena, , Ryan L. Minster

The paper identifies a stop-gain variant in BTNL9 associated with lower HDL-C and higher triglycerides in Polynesian populations.

Human Genetics and Genomics Advances · Oct 12, 2022Peer-reviewedGenetic & Genomic Medicine

A murine model of the human CREBRFR457Q obesity-risk variant does not influence energy or glucose homeostasis in response to nutritional stress

Jitendra Singh Kanshana, Polly E. Mattila, Michael Ewing, Ashlee N. Wood, Gabriele Schoiswohl, Anna C. Meyer, Aneta Kowalski, Samantha L. Rosenthal, Sébastien Gingras, Brett A. Kaufman, Ray Lu, Daniel E. Weeks, Stephen T. McGarvey, Ryan L. Minster, Nicola L. Hawley, Erin E. Kershaw

This study generates a murine model of the human CREBRFR457Q obesity-risk variant and finds it does not affect energy or glucose homeostasis under various nutritional stress conditions.

PLoS ONE · Sep 14, 2021Peer-reviewedGenetics