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Steppe-pastoralist-related ancestry reached Central Europe by at least 2500 BC, whereas Iranian farmer-related ancestry was present in Aegean Europe by at least 1900 BC. However, the spread of these ancestries into the western Mediterranean, where they have contributed to many populations that live today, remains poorly understood. Here, we generated genome-wide ancient-DNA data from the Balearic Islands, Sicily and Sardinia, increasing the number of individuals with reported data from 5 to 66. The oldest individual from the Balearic Islands (~2400 BC) carried ancestry from steppe pastoralists that probably derived from west-to-east migration from Iberia, although two later Balearic individuals had less ancestry from steppe pastoralists. In Sicily, steppe pastoralist ancestry arrived by ~2200 BC, in part from Iberia; Iranian-related ancestry arrived by the mid-second millennium BC, contemporary to its previously documented spread to the Aegean; and there was large-scale population replacement after the Bronze Age. In Sardinia, nearly all ancestry derived from the island's early farmers until the first millennium BC, with the exception of an outlier from the third millennium BC, who had primarily North African ancestry and who-along with an approximately contemporary Iberian-documents widespread Africa-to-Europe gene flow in the Chalcolithic. Major immigration into Sardinia began in the first millennium BC and, at present, no more than 56-62% of Sardinian ancestry is from its first farmers. This value is lower than previous estimates, highlighting that Sardinia, similar to every other region in Europe, has been a stage for major movement and mixtures of people.
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http://dx.doi.org/10.1038/s41559-020-1102-0 | DOI Listing |
Genet Med Open
July 2025
Faculty of Biology Medicine and Health, University of Manchester, United Kingdom.
Purpose: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to analyze the genotype distribution of FCS-causing genes in the United Kingdom.
Methods: Data were anonymously collated from 2 genetic testing laboratories providing national genetic diagnosis services for severe hypertriglyceridemia in the United Kingdom.
Am J Prev Cardiol
September 2025
Department of Cardiology, Albert Einstein College of Medicine/ Montefiore Medical Center, Bronx, NY, USA.
Background: Hispanics/Latinos are a heterogenous population with no validated atherosclerotic cardiovascular disease (ASCVD) risk estimation tool. We examined performance of the pooled cohort equation (PCE) across Hispanic/Latino background groups and quantiles of African, Amerindian, and European genetic ancestry.
Methods: The Multi-Ethnic Study of Atherosclerosis (MESA) was used to evaluate the performance of the non-Hispanic Black (NHB) and non-Hispanic White (NHW) PCE defined by predicted to observed (P/O) ratios of 10-year ASCVD events.
NAR Genom Bioinform
September 2025
Centre for Integrative Biology and Systems Medicine (IBSE), Wadhwani School of Data Science and AI, Indian Institute of Technology (IIT) Madras, Chennai 600036, India.
Genome graphs provide a powerful reference structure for representing genetic diversity. Their structure emphasizes the polymorphic regions in a collection of genomes, enabling network-based comparisons of population-level variation. However, current tools are limited in their ability to quantify and compare structural features across large genome graphs.
View Article and Find Full Text PDFInt J Chron Obstruct Pulmon Dis
September 2025
Department of Respiratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou City, Jiangxi Province, People's Republic of China.
Background: Chronic obstructive pulmonary disease (COPD) frequently co-occurs with autoimmune diseases (ADs), yet their shared genetic basis remains incompletely understood. This study aimed to evaluate genetic correlations between COPD and seven ADs and identify shared genetic risk loci underlying this comorbidity.
Methods: We integrated summary statistics from large-scale genome-wide association studies (GWAS) of COPD and seven ADs in European populations.
Stat Biosci
August 2024
Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Large-scale genomics data combined with Electronic Health Records (EHRs) illuminate the path towards personalized disease management and enhanced medical interventions. However, the absence of "gold standard" disease labels makes the development of machine learning models a challenging task. Additionally, imbalances in demographic representation within datasets compromise the development of unbiased healthcare solutions.
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