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

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

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

DANIEL A. DICORPO, Sheila M. Gaynor, Emily M. Russell, Kenneth E. Westerman, Laura M. Raffield, Timothy D. Majarian, Peitao Wu, Chloé Sarnowski, Heather M. Highland, Anne Jackson, Natalie R. Hasbani, Paul S. de Vries, Jennifer A. Brody, Bertha Hidalgo, Xiuqing Guo, , Alisa Knodle Manning

The paper performs whole genome sequence association analysis of fasting glucose and insulin levels in diverse cohorts, identifying 22 significant variants across 16 gene regions, including rare variants.

Communications Biology · Jul 28, 2022Peer-reviewedGenetic & Genomic Medicine

Recovery of trait heritability from whole genome sequence data

Pierrick Wainschtein, Deepti Jain, Zhili Zheng, TOPMed Anthropometry Working Group, Stella W. Aslibekyan, Diane M. Becker, Wenjian Bi, Jennifer A. Brody, Jenna C. Carlson, Adolfo Correa, Margaret Mengmeng Du, Lindsay Fernández‐Rhodes, Kendra Ferrier, Mariaelisa Graff, Xiuqing Guo, , Joshua C. Bis

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

Nature Genetics · Mar 1, 2022Peer-reviewedGenetics

CREBRF missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesians living in Samoa and Aotearoa New Zealand.

Emily M. Russell, Jenna C. Carlson, Mohanraj Krishnan, Nicola L. Hawley, Guangyun Sun, Hong Cheng, Take K. Naseri, Muagututi‘a Sefuiva Reupena, Satupaitea Viali, John Tuitele, Tanya J. Major, Iva Miljkovic, Tony Raymond Merriman, Ranjan Deka, Daniel E. Weeks, , Ryan L. Minster

The paper examines the direct and indirect effects of rs373863828 on type 2 diabetes and fasting glucose in Polynesians, finding BMI mediates part of its effect.

BMJ Open Diabetes Research & Care · Feb 1, 2022Peer-reviewedGenetic & Genomic Medicine

A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity.

Jaye Moors, Mohanraj Krishnan, Nick Sumpter, Riku Takei, Matt Bixley, Murray J. Cadzow, Tanya J. Major, Amanda J. Phipps‐Green, Ruth Topless, Marilyn E. Merriman, Malcolm T. Rutledge, Ben Morgan, Jenna C. Carlson, Jerry Z. Zhang, Emily M. Russell, , Megan Leask

The paper identifies a population-specific missense variant in CETP that lowers CETP activity and improves lipid profile, similar to loss-of-function mutations.

medRxiv · Sep 11, 2021 · PreprintGenetic & Genomic Medicine

The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians

Hanxiao Sun, Meng Hsuan Lin, Emily M. Russell, Ryan L. Minster, Tsz Fung Chan, Bryan L. Dinh, Take K. Naseri, Muagututi‘a Sefuiva Reupena, Annette Lum‐Jones, the Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group, Iona C. Cheng, Lynne Ross Wilkens, Loı̈c Le Marchand, Christopher A. Haiman, Charleston W. K. Chiang

This study investigates the association between Polynesian genetic ancestry and cardiometabolic traits in Native Hawaiians, finding increased risks for diabetes, heart failure, and BMI, but limited replication of a T2D-associated chr6 variant.

PLoS Genetics · Feb 11, 2021Peer-reviewedGenetics

A missense variant in CREBRF is associated with taller stature in Samoans

Jenna C. Carlson, Samantha L. Rosenthal, Emily M. Russell, Nicola L. Hawley, Guangyun Sun, Hong Cheng, Take K. Naseri, Muagututi‘a Sefuiva Reupena, John Tuitele, Ranjan Deka, Stephen T. McGarvey, Daniel E. Weeks, Ryan L. Minster

This study finds that a missense variant in CREBRF is associated with increased height in Samoan adults and children.

American Journal of Human Biology · Mar 19, 2020Peer-reviewedGenetics