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

Molecular Screening of Familial Hypercholesterolemia in the Icelandic Population

Greg Kellogg, Bolli Þórsson, Ying Cai, Robert G. Wisotzkey, Andrew Pollock, Matthew Akana, Rebecca Fox, Michael Jansen, Elias Freyr Gudmundsson, Bonny Patel, Chih-Yu Chang, Malgorzata Jaremko, Valur Emilsson, Vilmundur G. Gudnason, Óscar Puig

The paper develops an NGS panel to identify pathogenic LDLR mutations in Icelandic FH families and population-based samples with high cholesterol.

bioRxiv · Sep 27, 2018 · PreprintGenetics