Coding and regulatory variants are associated with serum protein levels and disease

Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep serum proteome survey recently revealed close associations between serum protein networks and common disease. In the current study, 54,469 low-frequency and common exome-array variants were compared to 4782 pro...

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Vydáno v:Nature communications Ročník 13; číslo 1; s. 481 - 11
Hlavní autoři: Emilsson, Valur, Gudmundsdottir, Valborg, Gudjonsson, Alexander, Jonmundsson, Thorarinn, Jonsson, Brynjolfur G., Karim, Mohd A., Ilkov, Marjan, Staley, James R., Gudmundsson, Elias F., Launer, Lenore J., Lindeman, Jan H., Morton, Nicholas M., Aspelund, Thor, Lamb, John R., Jennings, Lori L., Gudnason, Vilmundur
Médium: Journal Article
Jazyk:angličtina
Vydáno: London Nature Publishing Group UK 25.01.2022
Nature Publishing Group
Nature Portfolio
Témata:
45/43
631/208/205/2138
631/45/475
692/53/2422
82/80
Aged
Arrays
Biomarkers
Blood Proteins - genetics
Disease
Disease - classification
Disease - genetics
Exome - genetics
Female
Genetic Predisposition to Disease
Genotype
Humanities and Social Sciences
Humans
Iceland
Male
multidisciplinary
Nucleotide sequence
Polymorphism, Single Nucleotide
Proteins
Proteome - metabolism
Proteomes
Science
Science (multidisciplinary)
Serum levels
Serum proteins
Iceland
ISSN:2041-1723, 2041-1723
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Shrnutí:Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep serum proteome survey recently revealed close associations between serum protein networks and common disease. In the current study, 54,469 low-frequency and common exome-array variants were compared to 4782 protein measurements in the serum of 5343 individuals from the AGES Reykjavik cohort. This analysis identifies a large number of serum proteins with genetic signatures overlapping those of many diseases. More specifically, using a study-wide significance threshold, we find that 2021 independent exome array variants are associated with serum levels of 1942 proteins. These variants reside in genetic loci shared by hundreds of complex disease traits, highlighting serum proteins’ emerging role as biomarkers and potential causative agents of a wide range of diseases. Finding the genetic basis of protein expression can elucidate the genetic mechanisms of disease. Here, the authors link low-frequency and common DNA sequence variants to thousands of serum proteins, finding genetic overlap between circulating proteins and a wide range of common diseases.
Bibliografie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:2041-1723
2041-1723
DOI:10.1038/s41467-022-28081-6