The paper identifies 16 genetic loci interacting with sleep duration to influence glycemic traits in over 480,000 individuals, revealing distinct biological mechanisms for short and long sleep.

Diabetes · Oct 29, 2026Peer-reviewedGenetic & Genomic Medicine

Long-term temporal stability of circulating proteins in older adults

Hulda K Ingvarsdottir, Heida Bjarnadottir, Thomas R. Austin, Elisabet Alexandra Frick, Eva Marie Jacobsen, Kari Arnarson, Nancy Finkel, Joseph Loureiro, Lenore J. Launer, Joshua C. Bis, Thor Aspelund, Valur Emilsson, Michelle C. Odden, Arnar Pálsson, Vilmundur G. Gudnason, Valborg Guðmundsdóttir

This study examines the long-term temporal stability of 7,288 circulating proteins in older adults over five years, identifying factors like genetic effects and disease stage that influence stability.

Nature Communications · May 22, 2026Peer-reviewedGenomics

The impact of low-frequency genetic variants on serum protein levels

Heida Bjarnadottir, Þórarinn Jónmundsson, Hulda K Ingvarsdottir, Elisabet Alexandra Frick, Nancy Finkel, Joseph Loureiro, Lenore J. Launer, Thor Aspelund, Yanhua Chen, Elizabeth K. Speliotes, Anthony P. Orth, Albert V. Smith, Valur Emilsson, Vilmundur G. Gudnason, Valborg Gudmundsdottir

This study identifies low-frequency genetic variants influencing serum protein levels, showing increased genetic signals and allelic heterogeneity in cis-regulation.

bioRxiv · Mar 18, 2026 · PreprintGenomics

Plasma Proteomics and Sensitive Imaging Biomarkers of Vascular Brain Injury

Qiong Yang, Valborg Guðmundsdóttir, Emer R. McGrath, Muralidharan Sargurupremraj, Yineng Zhu, Pauline Maillard, ZSU-ZSU CHEN, Claudia Liliana Satizábal, Usman A. Tahir, Alexa Beiser, Joseph Loureiro, Lars Forsberg, Stéphanie Debette, Charles S DeCarli, Lenore J. Launer, , Vilmundur G. Gudnason

The paper identifies plasma proteins associated with diffusion tensor imaging biomarkers of white matter injury and suggests potential causal relationships using Mendelian randomization.

medRxiv · Jan 22, 2026 · PreprintGenetic & Genomic Medicine

Systematic comparison of observational and Mendelian Randomization estimates for cardiometabolic proteomic signatures

Þórarinn Jónmundsson, Valur Emilsson, Elisabet Alexandra Frick, Heida Bjarnadottir, Eva Jacobsen, Thor Aspelund, Lenore J. Launer, Joseph Loureiro, Anthony P. Orth, Nancy Finkel, Vilmundur G. Gudnason, Valborg Guðmundsdóttir

This study compares observational and Mendelian Randomization estimates of cardiometabolic proteomic signatures, finding that reverse causation predominantly shapes proteomic associations.

medRxiv · Dec 4, 2025 · PreprintGenetic & Genomic Medicine

Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals

Mengyu Zhang, Michael R. Brown, Amy R. Bentley, Thomas W. Winkler, Raymond Noordam, Pavithra Nagarajan, Bohong Guo, Songmi Lee, Karen Schwander, Wenyi Wang, Kenneth E. Westerman, Jeffrey R. O’Connell, Farah Ammous, Anna D. Argoty-Pantoja, Traci M. Bartz, , Bertha Hidalgo

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

medRxiv · Oct 6, 2025 · PreprintGenetic & Genomic Medicine

A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations

Pavithra Nagarajan, Thomas W. Winkler, Amy R. Bentley, Clint L. Miller, Aldi T. Kraja, Karen Schwander, Songmi Lee, Wenyi Wang, Michael R. Brown, John L. Morrison, Ayush Giri, Jeffrey R. O’Connell, Traci M. Bartz, Lisa de las Fuentes, Valborg Guðmundsdóttir, , Stephen S. Rich

This study identifies 22 novel gene-sleep duration interaction loci for blood pressure traits across 811,405 individuals, highlighting distinct genetic influences of short and long sleep on cardiovascular health.

Molecular Psychiatry · Apr 4, 2025Peer-reviewedGenetic & Genomic Medicine

Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study.

Andrew Anand Brown, Juan J. Fernandez-Tajes, Mun‐Gwan Hong, Caroline Brorsson, Robert Wilhelm Koivula, David Davtian, Théo Dupuis, Ambra Sartori, Theodora-Dafni Michalettou, Ian M. Forgie, Jonathan Adam, Kristine Højgaard Allin, Robert J. Caiazzo, Henna Cederberg, Federico De Masi, , Ulrik Plesner Jacobsen

The paper identifies shared genetic regulation across mRNA, proteins, and metabolites in blood, revealing networks and mediators of GWAS variants.

Nature Communications · Aug 21, 2023Peer-reviewedGenetic & Genomic Medicine

A Proteogenomic Signature of Age-related Macular Degeneration in Blood

Valur Emilsson, Elias Freyr Gudmundsson, Þórarinn Jónmundsson, Brynjolfur G. Jonsson, Michael Twarog, Valborg Guðmundsdóttir, Zhiguang Li, Nancy Finkel, Stephen H. Poor, Xin Liu, Robert Esterberg, Yiyun Zhang, Sandra Jose, Chia Ling Huang, Sha-Mei Liao, , Tony E. Walshe

This study identifies a proteogenomic signature in blood associated with age-related macular degeneration, linking serum proteins to disease severity and progression.

Nature Communications · Jun 13, 2022Peer-reviewedGenetic & Genomic Medicine

A genome-wide association study of serum proteins reveals shared loci with common diseases

Alexander Guðjónsson, Valborg Guðmundsdóttir, Gisli Thor Axelsson, Elias Freyr Gudmundsson, Brynjolfur G. Jonsson, Lenore J. Launer, John R. Lamb, Lori L. Jennings, Thor Aspelund, Valur Emilsson, Vilmundur G. Gudnason

This study identifies 4,113 genetic associations with serum proteins in 5,368 individuals, revealing shared loci between proteins and common diseases.

Nature Communications · Jan 25, 2022Peer-reviewedGenomics

Deep serum proteomics reveal biomarkers and causal candidates for type 2 diabetes

Valborg Guðmundsdóttir, Shaza B. Zaghlool, Valur Emilsson, Thor Aspelund, Marjan Ilkov, Elias Freyr Gudmundsson, Stefan M. Jonsson, Nuno R. Zilhäo, John R. Lamb, Karsten Suhre, Lori L. Jennings, Vilmundur G. Gudnason

This study uses deep serum proteomics to identify 20 protein biomarkers for predicting type 2 diabetes and finds 48 proteins with causal roles in its development.

Diabetes · May 8, 2020Peer-reviewedGenetics

Coding and regulatory variants affect serum protein levels and common disease

Valur Emilsson, Valborg Guðmundsdóttir, Alexander Guðjónsson, Mohd Anisul Karim, Marjan Ilkov, James R. Staley, Elias Freyr Gudmundsson, Brynjolfur G. Jonsson, Lenore J. Launer, Jan H.N. Lindeman, Nicholas M. Morton, Thor Aspelund, John R. Lamb, Lori L. Jennings, Vilmundur G. Gudnason

The paper identifies 2019 exome array variants affecting 2135 serum proteins and their association with hundreds of complex disease traits in the AGES Reykjavik cohort.

bioRxiv · May 6, 2020 · PreprintGenetics