This study identifies 118 reproductive-associated genes with evidence of adaptive introgression from archaics, showing their impact on traits and disease.

Communications Biology · Sep 26, 2025Peer-reviewedEvolutionary Biology

Genome-wide association study provides novel insight into the genetic architecture of severe obesity.

Mohanraj Krishnan, Mohammad Yaser Anwar, Anne E. Justice, Geetha Chittoor, Hung‐Hsin Chen, Rashedeh Roshani, Alyssa Scartozzi, Rachel R. Dickerson, Roelof A. J. Smit, Michael H Preuss, Nathalie Chami, Benjamin S Hadad, Esteban Juan Parra, Miguel Cruz, Qin Hui, , Mariaelisa Graff

This study identifies novel genetic signals associated with severe obesity through GWAS and shows strong genetic overlap with BMI, highlighting shared comorbidities and lifestyle interactions.

PLoS Genetics · Sep 12, 2025Peer-reviewedGenetic & Genomic Medicine

A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism

Cristina L. Abbatangelo, Frida Lona‐Durazo, Melissa Edwards, Esteban Juan Parra

This paper identifies additional genetic markers influencing eye color in individuals with genotypes not matching their expected phenotype based on rs12913832.

bioRxiv · Jul 20, 2025 · PreprintGenetics

Investigating shared genetic architecture between pigmentation genetics and Parkinson's Disease

Cristina L. Abbatangelo, Brendan A Newton, Frank R. Wendt, Esteban Juan Parra

The paper examines genetic links between pigmentation traits and Parkinson's Disease using LDSC, PRS, MR, and multi-trait analysis, finding limited shared variation and no causal relationships.

medRxiv · Apr 30, 2025 · PreprintGenetic & Genomic Medicine

Exploring adaptive introgression in modern human circadian rhythm genes

Christopher Kendall, Amin Nooranikhojasteh, Guilherme Debortoli, Vinicius Cauê Furlan Roberto, Marla Mendes de Aquino, David R. Samson, Esteban Juan Parra, Bence Viola, Michael A. Schillaci

The paper identifies adaptive introgression in circadian rhythm genes across 76 global populations, finding 303 genes and intergenic regions with archaically derived variants under positive selection.

bioRxiv · Aug 12, 2024 · PreprintGenomics

Exome-wide tandem repeats confer large effects on subcortical volumes in UK Biobank participants

Mary Anne Panoyan, Yuxin Shi, Cristina L. Abbatangelo, Nina Adler, Ashley Moo-Choy, Esteban Juan Parra, Renato A Polimanti, Pingzhao Hu, Frank R. Wendt

The paper identifies exome-wide tandem repeats associated with subcortical volumes and psychiatric symptoms in UK Biobank participants.

medRxiv · Dec 11, 2023 · PreprintGenetic & Genomic Medicine

Investigating the genetic architecture of eye colour in a Canadian cohort

Frida Lona‐Durazo, Rohit Thakur, Erola Pairo‐Castineira, Karen M. Funderburk, Tongwu Zhang, Michael A. Kovacs, Jiyeon Choi, Ian J. Jackson, Kevin M. Brown, Esteban Juan Parra

This study identifies genetic loci associated with eye colour in a Canadian European cohort, highlighting the HERC2/OCA2 region and other genes, and explores their molecular mechanisms.

iScience · May 30, 2022Peer-reviewedGenetics

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Anubha Mahajan, Cassandra Nichole Spracklen, Weihua Zhang, Maggie C.Y. Ng, Lauren E. Petty, Hidetoshi Kitajima, Grace Z. Yu, Sina Rüeger, Leo Speidel, Young Jin Kim, Momoko Horikoshi, Josep Maria Mercader, Daniel Taliun, Sanghoon Moon, Soo‐Heon Kwak, , Mary Cushman

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

Discovery Research Portal (University of Dundee) · Jan 1, 2022Peer-reviewedGenetic & Genomic Medicine

Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL Study

Anne E. Justice, Kristin L. Young, Stephanie M. Gogarten, Tamar Sofer, Mariaelisa Graff, Shelly Ann Love, Yujie Wang, Yann C. Klimentidis, Miguel Cruz, Xiuqing Guo, Fernando Pires Hartwig, Lauren E. Petty, Jie Yao, Matthew Allison, Jennifer Elizabeth Below, , Kari E. North

This study identifies genetic variants associated with body fat distribution traits in Hispanics/Latinos and finds ancestry-specific associations.

Human Molecular Genetics · Jun 18, 2021Peer-reviewedGenetic & Genomic Medicine

Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

Andrew P. Morris, Thu H Le, Hao Wu, Artur Akbarov, Peter J. van der Most, Gibran Hemani, George Davey Smith, Anubha Mahajan, Kyle J. Gaulton, Girish N. Nadkarni, Adán Valladares‐Salgado, Niels H. Wacher, Josyf C. Mychaleckyj, Nicole Dueker, Xiuqing Guo, , Nora Franceschini

This study identifies 93 genetic loci associated with kidney function across four ancestry groups and highlights causal effects on kidney-related diseases.

Nature Communications · Dec 28, 2018Peer-reviewedGenetics