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DOI 10.1016/j.xhgg.2026.100663

Медицинская библиотека · HGG advances · 2026

Variant harmonization critically determines polygenic score transferability for lipid traits in Samoan populations.

Yapp Toni-Ann J, Krishnan Mohanraj, Liu Shuwei, Manna Samantha L, Cheng Hong, Naseri Take, Muagututuʻa Sefuiva Reupena, Satupaʻitea Viali, Tuitele John, Deka Ranjan, Hawley Nicola L, McGarvey Stephen T, Weeks Daniel E, Minster Ryan L, Carlson Jenna C

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Аннотация

Dyslipidemia is a significant risk factor for cardiovascular disease (CVD), the leading cause of death in Samoa. Polygenic scores (PGSs) for lipid traits offer promise for improved CVD risk prediction; however, their performance in Pacific Islander populations-comprising only 0.002% of genome-wide association study (GWAS) participants as of 2024-remains unknown. We evaluated the transferability of multi-ancestry PGS for LDL cholesterol (LDL-C), HDL cholesterol (HDL-C), triglycerides (TGs), and total cholesterol (TC) in 4,342 Samoan adults across five cohorts spanning 1990-2010. PGSs from Graham et al. and Kanoni et al. multi-ancestry meta-analyses were harmonized with genome-wide imputed genotypes using a Samoan-specific reference panel, and performance was assessed via incremental R2 from linear mixed models with bootstrapped confidence intervals. HDL-C showed the highest performance (incremental R2 5.0%-15.0%), followed by TC (5.0%-10.7%), LDL-C (5.7%-8.6%), and TG (3.5%-7.0%). Critically, meaningful LDL-C performance was achieved only with the genome-wide PRS-CS score (99.6%-99.7% variant matching), while a curated pruning-and-thresholding score achieved ∼9% matching and near-zero performance. These findings establish systematic lipid PGS benchmarks in Samoans, demonstrating meaningful transferability when genome-wide variant coverage is ensured, and highlight variant harmonization as a critical precondition for PGS deployment in underrepresented populations.

Для цитирования: Yapp Toni-Ann J, Krishnan Mohanraj, Liu Shuwei, Manna Samantha L, Cheng Hong, Naseri Take, Muagututuʻa Sefuiva Reupena, Satupaʻitea Viali, Tuitele John, Deka Ranjan, Hawley Nicola L, McGarvey Stephen T, Weeks Daniel E, Minster Ryan L, Carlson Jenna C. Variant harmonization critically determines polygenic score transferability for lipid traits in Samoan populations.. HGG advances. 2026. DOI: 10.1016/j.xhgg.2026.100663.
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