Genetic and multi-omic insights into inflammation and metabolism in a French Polynesian cohort

Inflammatory and metabolic diseases are a major global health burden, and their genetic mechanisms differ between populations. The stepwise settlement of the Pacific has left Polynesian communities with variants that are locally common and globally rare. Yet these communities remain underrepresented in genomic research. Here we combine whole-genome sequencing with blood metabolite and gene-activity profiling in a gout-focused cohort of 1,043 French Polynesian participants, and show that such variants shape molecular traits and disease risk. Hundreds alter metabolite levels, gene expression or splicing but are absent or rare in global reference datasets. Findings include a gene-disrupting variant in ANGPTL8 that lowers lipids and inflammatory markers; an LRMDA variant linked to type 2 diabetes; and a signal at the alpha-globin locus suggestive of thalassemia trait. Integrating molecular and phenotypic data further implicates WDR1 as an additional causal gout gene at the SLC2A9 locus. Genomic research in underrepresented populations thus reveals broadly relevant disease mechanisms. A study of French Polynesians found hundreds of genetic variants that are common locally but rare worldwide and that alter metabolite levels and gene activity, including variants linked to lipid levels, type 2 diabetes and gout.

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Publication Details

Journal
Nature Communications
Published
2026-10-24
DOI
https://doi.org/10.1038/s41467-026-78816-y
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
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article

Genetic and multi-omic insights into inflammation and metabolism in a French Polynesian cohort

Tristan Pascart, Valérie Chune, Thomas Bardin, Tony Raymond Merriman et al.
Nature Communications
Genetic Associations and Epidemiology
article

Genetic and multi-omic insights into inflammation and metabolism in a French Polynesian cohort

Tristan Pascart, Valérie Chune, Thomas Bardin, Tony Raymond Merriman, Laura M. Yerges-Armstrong, Melissa C. Hendershott, Iman Hamid, Anne‐Katrin Emde, Jaye Moors, Stephane E. Castel, Sarah LeBaron von Baeyer, Kaja A. Wasik, Megan Leask, Keolu Fox, Mathilde Boissel, Baptiste Gérard, Erwan Oehler, Olivia A Gray, Vehia Wheeler, Cristian Preda
article en

Abstract

Inflammatory and metabolic diseases are a major global health burden, and their genetic mechanisms differ between populations. The stepwise settlement of the Pacific has left Polynesian communities with variants that are locally common and globally rare. Yet these communities remain underrepresented in genomic research. Here we combine whole-genome sequencing with blood metabolite and gene-activity profiling in a gout-focused cohort of 1,043 French Polynesian participants, and show that such variants shape molecular traits and disease risk. Hundreds alter metabolite levels, gene expression or splicing but are absent or rare in global reference datasets. Findings include a gene-disrupting variant in ANGPTL8 that lowers lipids and inflammatory markers; an LRMDA variant linked to type 2 diabetes; and a signal at the alpha-globin locus suggestive of thalassemia trait. Integrating molecular and phenotypic data further implicates WDR1 as an additional causal gout gene at the SLC2A9 locus. Genomic research in underrepresented populations thus reveals broadly relevant disease mechanisms. A study of French Polynesians found hundreds of genetic variants that are common locally but rare worldwide and that alter metabolite levels and gene activity, including variants linked to lipid levels, type 2 diabetes and gout.

Nature Communications
Australian National University (AU), Université Paris Cité (FR), Université de Lille (FR), Institut Pasteur de Lille (FR), Centre Hospitalier Universitaire de Lille (FR), University of Alabama at Birmingham (US), University of California San Diego (US), Bioscar (FR), Hôpital Lariboisière (FR), Centre Hospitalier Universitaire de Rouen (FR), École Centrale de Lille (FR), University of Otago (NZ), University of French Polynesia (PF)
Openalex Percentile: Top 15%
Genetic Associations and Epidemiology
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