John Tuitele

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

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

Evaluating Polygenic Score Transferability for Lipid Traits in Underrepresented Populations: Evidence from Samoan Cohorts

The paper evaluates polygenic score transferability for lipid traits in Samoan populations using genome-wide imputed genotypes and finds meaningful performance for LDL-C with a genome-wide PRS-CS score.

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

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

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.

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.

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

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

Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels.

This study conducts genome-wide association analysis in Samoans to identify genetic variants associated with fasting serum lipid levels, finding both shared and Polynesian-specific associations.

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

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