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

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

Biomarker Identification by Proteomic Analysis of Vitreous Humor and Plasma in Diabetic Retinopathy

Qian Huang, Angela Banks, Rebecca C. Stacy, Ning Li, Yesel Kim, Lori L. Jennings, Nancy Finkel, Stella Yao, Anfan Wu, Amy Chen, Ma’en Obeidat, Cynthia L. Grosskreutz, Shiao Hui Melissa Liew, Ganesh Prasanna, Hyeong Gon Yu, , Qin Zhang

This study identifies protein biomarkers in vitreous humor and plasma that predict diabetic retinopathy progression, with significant changes observed in vitreous samples of PDR patients.

bioRxiv · May 18, 2024 · PreprintPhysiology

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