The paper investigates the association between polymorphic transposable elements (TEs) and behavioral traits and BMI in six Italian genetic isolates, finding significant links to health-related phenotypes.

medRxiv · May 7, 2025 · PreprintGenetic & Genomic Medicine

Large-scale genome-wide association study of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits.

Sebastian May-Wilson, Nana Matoba, Kaitlin Hazel Wade, Jouke‐Jan Hottenga, Maria Pina Concas, Massimo Mangino, Eryk J. Grzeszkowiak, Cristina Menni, Paolo Gasparini, Nicholas John Timpson, Maria Geraldine Veldhuizen, Eco J. C. de Geus, James F. Wilson, Nicola Pirastu

This study conducts a large-scale GWAS of food liking in 161,625 UK Biobank participants, identifying 1401 associations and revealing genetic correlations with brain traits.

bioRxiv · Jul 28, 2021 · PreprintGenetics

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

Ιωάννα Ντάλλα, Lu-Chen C Weng, James Cartwright, Amelia Weber Hall, Garðar Sveinbjörnsson, Nathan R. Tucker, Seung Hoan Choi, Mark D. Chaffin, Carolina Roselli, Michael R. Barnes, Borbála Mifsud, Helen R. Warren, Caroline Hayward, Jonathan Marten, James J. Cranley, , Dan M. Roden

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

bioRxiv · Jul 30, 2019 · PreprintGenetics

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

Anne E. Justice, Tugce Karaderi, Heather M. Highland, Kristin L. Young, Mariaelisa Graff, Yingchang Lu, Valérie Turcot, Paul Livermore Auer, Rebecca S. Fine, Xiuqing Guo, Claudia Schurmann, Adelheid M. Lempradl, Eirini Marouli, Anubha Mahajan, Thomas W. Winkler, , Andrew Tym Hattersley

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

Nature Genetics · Feb 18, 2019Peer-reviewedGenetics

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

Luke M. Evans, Rasool Tahmasbi, Matthew Jones, Scott I. Vrieze, Gonçalo R. Abecasis, Sayantan Das, Douglas W. Bjelland, Teresa R de Candia, David Altshuler, Carl A. Anderson, Andrea Angius, Jeffrey C. Barrett, Sonja I. Berndt, Michael Boehnke, Dorrett Boomsma, , George Davey Smith

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

Heredity · Mar 28, 2018Peer-reviewedGenetics

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Jessica van Setten, Jennifer A. Brody, Yalda Jamshidi, Brenton R. Swenson, Anne M. Butler, Harry Campbell, M. Fabiola Del Greco, Daniel S. Evans, Quince Gibson, Daniel Fannar Gudbjartsson, Kathleen F. Kerr, Bouwe P. Krijthe, Leo‐Pekka Lyytikäinen, Christian Müller, Martina Müller‐Nurasyid, , Paolo Gasparini

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.

bioRxiv · Jan 17, 2018 · PreprintGenetics

Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations

Marc Haber, Massimo Mezzavilla, Yali Xue, David Comas, Paolo Gasparini, Pierre Zalloua, Chris Tyler-Smith

This study analyzes genome-wide variation in Armenians to show their origin from Bronze Age mixing of multiple populations and their genetic affinity to Neolithic Europeans.

European Journal of Human Genetics · Oct 21, 2015Peer-reviewedGenetics

Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

Massimiliano Cocca, Marc Pybus, Pier Francesco Palamara, Erik Garrison, Michela Traglia, Cinzia F Sala, Sheila Uiivi, Yasin Memari, Anja Kolb-Kokocinski, Shane McCarthy, Richard Durbin, Paolo Gasparini, Daniela Toniolo, Nicole Soranzo, Vincenza Colonna

The paper analyzes whole-genome sequencing data from Italian founder populations to determine the cause of purging of deleterious variants, concluding that genetic drift and founder effect, not consanguinity, are responsible.

bioRxiv · Oct 12, 2015 · PreprintEvolutionary Biology

Genetic landscape of populations along the Silk Road: admixture and migration patterns

Massimo Mezzavilla, Diego Vozzi, Nicola Pirastu, Giorgia Girotto, Pio D'Adamo, Paolo Gasparini, Vincenza Colonna

This study analyzes the genetic structure of six Central Asian populations along the Silk Road, revealing admixture patterns and migration events linked to historical expansions.

bioRxiv · Nov 24, 2014Genomics