Comparison of DNA Methylation Profiles of Hemostatic Genes between Liver Tissue and Peripheral Blood within Individuals
Journal article, 2021

DNA methylation has become increasingly recognized in the etiology of complex diseases, including thrombotic disorders. Blood is often collected in epidemiological studies for genotyping and has recently also been used to examine DNA methylation in epigenome-wide association studies. DNA methylation patterns are often tissue-specific, thus, peripheral blood may not accurately reflect the methylation pattern in the tissue of relevance. Here, we collected paired liver and blood samples concurrently from 27 individuals undergoing liver surgery. We performed targeted bisulfite sequencing for a set of 35 hemostatic genes primarily expressed in liver to analyze DNA methylation levels of >10,000 cytosine-phosphate-guanine (CpG) dinucleotides. We evaluated whether DNA methylation in blood could serve as a proxy for DNA methylation in liver at individual CpGs. Approximately 30% of CpGs were nonvariable and were predominantly hypo- (<25%) or hypermethylated (>70%) in both tissues. While blood can serve as a proxy for liver at these CpGs, the low variability renders these unlikely to explain phenotypic differences. We therefore focused on CpG sites with variable methylation levels in liver. The level of blood-liver tissue correlation varied widely across these variable CpGs; moderate correlations (0.5 <= r <0.75) were detected for 6% and strong correlations ( r 0.75) for a further 4%. Our findings indicate that it is essential to study the concordance of DNA methylation between blood and liver at individual CpGs. This paired blood-liver dataset is intended as a resource to aid interpretation of blood-based DNA methylation results.

Factor VII

bisulfite sequencing


DNA methylation



Martina Olsson Lindvall

University of Gothenburg

Sahlgrenska University Hospital

Annelie Angerfors

University of Gothenburg

Bjoern Andersson

University of Gothenburg

Staffan Nilsson

University of Gothenburg

Chalmers, Mathematical Sciences, Applied Mathematics and Statistics

Marcela Davila Lopez

University of Gothenburg

Lena Hansson

Novo Nordisk

Tara M. Stanne

University of Gothenburg

Sahlgrenska University Hospital

Christina Jern

University of Gothenburg

Sahlgrenska University Hospital

Thrombosis and Haemostasis

0340-6245 (ISSN)

Vol. 121 5 573-583

Subject Categories

Medical Bioscience

Clinical Laboratory Medicine

Medical Genetics





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