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 genome-wide association study of anti-Müllerian hormone (AMH) levels in Samoan women

Zeynep Erdogan-Yildirim, Jenna C. Carlson, Mohanraj Krishnan, Jerry Z. Zhang, Geralyn M. Lambert-Messerlian, Take K. Naseri, Satupaitea Viali, Nicola L. Hawley, Stephen T. McGarvey, Daniel E. Weeks, Ryan L. Minster

This paper identifies eleven genome-wide suggestive loci and seven transcriptome-wide significant genes associated with AMH levels in Samoan women using GWAS and TWAS.

Genes · Jun 30, 2025Peer-reviewedGenetic & Genomic Medicine

A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies

Xihao Li, Han Chen, Margaret Sunitha Selvaraj, Eric Van Buren, Hufeng Zhou, Yuxuan Wang, Ryan Sun, Zachary Ryan McCaw, Zhi Yu, Min-Zhi Jiang, DANIEL A. DICORPO, Sheila M. Gaynor, Rounak Dey, Donna K. Arnett, Emelia J. Benjamin, , Amber L. Beitelshees

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

Nature Computational Science · Feb 7, 2025Peer-reviewedGenetics

The Soifua Manuia reference panel with 2,570 Samoan haplotypes improve genotype imputation quality among Samoans

Jenna C. Carlson, Mohanraj Krishnan, Shuwei Liu, Kevin J. Anderson, Jerry Z. Zhang, Lauren M. Spor, Toni-Ann J. Yapp, Elizabeth A. Chiyka, Devin A. Dikec, Hong Cheng, Take K. Naseri, Muagututi‘a Sefuiva Reupena, Satupaitea Viali, Ranjan Deka, Nicola L. Hawley, , Ryan L. Minster

The paper constructs a Samoan-specific imputation reference panel, showing improved genotype imputation quality compared to existing panels for Samoan populations.

medRxiv · Oct 31, 2023 · 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

Genomic and phenomic landscape of clonal hematopoiesis in over a million ancestrally diverse participants

Md Mesbah Uddin, Zhi Yu, Joshua S. Weinstock, Abhishek Niroula, Caitlyn Vlasschaert, Satoshi Koyama, Tetsushi Nakao, Sarah Urbut, Seyedeh Maryam Zekavat, Kaavya Paruchuri, Buu Minh Thanh Truong, Alexander James Silver, Taralynn Mack, Megan Y. Wong, Sara Haidermota, , Pradeep Natarajan

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

medRxiv · Jul 29, 2022 · PreprintGenetic & Genomic Medicine

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

Discordant association of the CREBRF rs373863828 minor allele with increased body mass index and protection from type 2 diabetes in Maori and Pacific (Polynesian) people living in Aotearoa New Zealand

Mohanraj Krishnan, Tanya J. Major, Ruth Topless, Ofa Dewes, Lennex Hsueh‐Lin Yu, John Thompson, Lesley M. E. McCowan, Janak de Zoysa, Lisa K. Stamp, Nicola Dalbeth, Jennie Harré Hindmarsh, Nuku Rapana, Ranjan Deka, Winston W. H. Eng, Daniel E. Weeks, , Tony Raymond Merriman

The paper replicates an association between the CREBRF rs373863828 minor allele and increased BMI but reduced T2D risk in New Zealand Polynesian adults, similar to findings in Samoan populations.

Diabetologia · May 2, 2018Peer-reviewedGenetics