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Biology subjects

Pennarun, E.

Publications and source records attributed to Pennarun, E..

2 recordsLinked to original sources

Parental haplotypes reconstruction in up to 440,209 individuals reveals recent assortative mating dynamics

Assortative mating (AM), the tendency for individuals to choose partners with similar traits, plays an important role in social stratification and has a wide-spread impact on the genetic architecture of complex human traits. A genetic footprint of this behaviour, genetic assortative mating (GAM), has been documented for many traits. However, most existing approaches to estimate GAM either rely on genotyped couples - rare in large biobanks - or on estimates based on gametic phase disequilibrium (GPD), which reflect cumulative effects over multiple generations and cannot detect short-term events. We introduce a novel, scalable approach that infers genetic data for the parental generation to boost statistical power and improve interpretability when estimating GAM in biobank cohorts. Our method reconstructs the two parental haplotypes of biobank individuals by leveraging state-of-the-art inter-chromosomal phasing based on close relative information. By correlating polygenic scores computed separately on maternally and paternally inherited haplotypes, we infer the extent of GAM. Applied to 245,884 individuals from the UK Biobank and 194,325 individuals from the Estonian Biobank, our haplotype-based estimates showed strong concordance with GAM estimates from genotyped mate pairs across 69 traits and improved performance compared to existing GPD-based methods. We replicated previously identified patterns of GAM for many traits (educational attainment, height, BMI, and alcohol consumption), and revealed new ones (overall health and sedentary lifestyle). Temporal and geographic stratification revealed accelerated assortment in recent generations -- particularly for education and height -- and modest differences between urban and rural contexts. Our method enables scalable, interpretable, and generation-specific estimation of GAM in large biobank cohorts, providing new insights into the dynamic nature of mate choice and its impact on the genetic makeup of populations.

genetics↗

Genome-wide analysis of Corsican population reveals a close affinity with Northern and Central Italy

Despite being the fourth largest island in the Mediterranean basin, the genetic variation of Corsica has not been explored as exhaustively as Sardinia, which is situated only 11 km South. However, it is likely that the populations of the two islands shared, at least in part, similar demographic histories. Moreover, the relative small size of the Corsica may have caused genetic isolation, which, in turn, might be relevant under medical and translational perspectives. Here we analysed genome wide data of 16 Corsicans, and integrated with newly (33 individuals) and previously generated samples from West Eurasia and North Africa. Allele frequency, haplotype-based, and ancient genome analyses suggest that although Sardinia and Corsica may have witnessed similar isolation and migration events, the latter is genetically closer to populations from continental Europe, such as Northern and Central Italians.

genomics↗