RT Journal Article
T1 Whole-Genome Sequencing in Galicia Reveals Male-Biased Pre-Islamic North African Ancestry, Subtle Population Structure, and Microgeographic Patterns of Disease Risk
A1 Pardo Seco, Jacobo
A1 Camino Mera, Alba
A1 Bello Paderne, Xabier
A1 Gómez Carballa, Alberto
A1 Castelo Martínez, Lúa
A1 Martínez Cadenas, Conrado
A1 Martinón Torres, Federico
A1 Salas Ellacuriaga, Antonio
K1 Structure
K1 Galomics
K1 Inbreeding
K1 Polygenic disease risk
K1 ROH
K1 Whole-genome sequencing
AB Galicia, at the westernmost edge of Europe, exhibits distinctive genetic traits compared to other Iberian populations. We present the first whole-genome sequencing (WGS) study of a Galician population (GALOMICS; n = 91; 17.2 M variants; https://galomics.genpob.eu), analyzed alongside WGS data from other Spanish and continental populations (n = 1078). Contrary to recent claims of extreme genetic stratification, Galicia's structure reflects broader Iberian patterns, characterized by one major genetic cluster and four minor, localized ones. Analyses of the Spanish National DNA Bank (NDNAB; n = 453) confirm this pattern, with three Galician clusters, one clearly predominant. Phylogenetic analysis places Galician clusters on terminal, recently diverged branches, challenging earlier models suggesting ancient separation. Slightly elevated homozygosity, driven by the Porto do Son cluster, suggests mild regional inbreeding. A notable North African/Middle Eastern ancestry component (13.5%–16.5%) appears, likely introduced via trans-Mediterranean contact ca. 620–670 ce, predating the Islamic conquest of 711 ce, with a subtle south-to-north gradient and a male-biased signal (Y-DNA: 21.2%; mtDNA: 1.1%). This calls for reexamining assumptions about Islamic-era ancestry. Finally, Polygenic Risk Scores for common diseases (e.g., cancer, Alzheimer's disease, diabetes, autism) show geographic variability aligned with genetic substructure, highlighting the relevance of regional genomics to public health policy.
PB Wiley
YR 2025
FD 2025-12-13
LK https://hdl.handle.net/10347/46539
UL https://hdl.handle.net/10347/46539
LA eng
NO Pardo-Seco, J., Camino-Mera, A., Bello, X., Gómez-Carballa, A., Castelo-Martínez, Lúa, Martínez-Cadenas, C., Martinón-Torres, F. & Salas, A. (2025) Whole-Genome Sequencing in Galicia Reveals Male-Biased Pre-Islamic North African Ancestry, Subtle Population Structure, and Microgeographic Patterns of Disease Risk, The FASEB Journal, 39(24): e71253. https://doi.org/10.1096/fj.202502634R
NO The research group of the present study received support from (i) ISCIII: TRINEO: PI22/00162; DIAVIR: DTS19/00049 and DTS25/00083;Resvi- Omics: PI19/01039; MANTRA-ID: PI25/00725 (to A.S.), ReSVinext: PI16/01569, Enterogen: PI19/01090, OMI- COVI-VAC: PI22/00406 (to F.M.-T.),cofinanciados FEDER, (ii) GAIN: IN607B 2020/08 and IN607A 2023/02 (to A.S.), GEN- COVID IN845D 2020/23 (to F.M.-T.), IIN607A2021/05 (to F.M.-T.)and IN677D 2024/06 (to A.G.- C.); (iii) ACIS: BI-BACVIR (PRIS-3, to A.S.), CovidPhy (SA 304 C, to A.S.), PneumoTrack (PRIST-VAL, to A.S.), and Respisal(PRIST-VAL, to F.M.-T.); (iv) consorcio Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CB21/06/00103; to A.S. and F.M.-T.)and (v) Spanish Ministry of Science and Innovation (MCIN)/Spanish Research Agency (AEI) (KAWA-TesT: PID2022-142156OB-I00, to AG- C). This studyhas been funded by the Instituto de Salud Carlos III (ISCIII) through the project “CP23/00080” and cofunded by the European Union (AG- C). LJS wassupported by the NOMIS foundation. This work was supported by the European Union's Horizon 2020 research and innovation programme under GrantAgreement Nos. 668303 (PERFORM) and 848196 (DIAMONDS). The funders were not involved in the study design, collection, analysis, interpretation ofdata, the writing of this article, or the decision to submit it for publication.
DS Minerva
RD 24 may 2026