Hemostatic Genes Exhibit a High Degree of Allele-Specific Regulation in Liver

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Olsson Lindvall, MartinaGothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine (författare)

Hemostatic Genes Exhibit a High Degree of Allele-Specific Regulation in Liver

Artikel/kapitelEngelska2019

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2019-04-29
Georg Thieme Verlag KG,2019

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LIBRIS-ID:oai:gup.ub.gu.se/282253
https://gup.ub.gu.se/publication/282253URI
https://doi.org/10.1055/s-0039-1687879DOI

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Språk:engelska

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Objective Elucidating the genetic basis underlying hepatic hemostatic gene expression variability may contribute to unraveling genetic factors contributing to thrombotic or bleeding disorders. We aimed to identify novel cis-regulatory variants involved in regulating hemostatic genes by analyzing allele-specific expression (ASE) in human liver samples. Study Design Biopsies of human liver tissue and blood were collected from adults undergoing liver surgery at the Sahlgrenska University Hospital (n =20). Genomic deoxyribonucleic acid (gDNA) and total ribonucleic acid (RNA) were isolated. A targeted approach was used to enrich and sequence 35 hemostatic genes for single nucleotide polymorphism (SNP) analysis (gDNAseq) and construct individualized genomes for transcript alignment. The allelic ratio of transcripts from targeted RNAseq was determined via ASE analysis. Public expression quantitative trait loci (eQTL) and genome-wide association study (GWAS) data were used to assess novelty and importance of the ASE SNPs (and proxies, r(2) >= 0.8) for relevant traits/diseases. Results Sixty percent of the genes studied showed allelic imbalance across 53 SNPs. Of these, 7 SNPs were previously validated in liver eQTL studies. For 32 with eQTLs in other cell/tissue types, this is the first time genotype-specific expression is demonstrated in liver, and for 14 ASE SNPs, this is the first ever reported genotype-expression association. A total of 29 ASE SNPs were previously associated with the respective plasma protein levels and 17 ASE SNPs to other relevant GWAS traits including venous thromboembolism, coronary artery disease, and stroke. Conclusion Our study provides a comprehensive ASE analysis of hemostatic genes and insights into the regulation of hemostatic genes in human liver.

Ämnesord och genrebeteckningar

MEDICIN OCH HÄLSOVETENSKAP Medicinsk bioteknologi Biomedicinsk laboratorievetenskap/teknologi hsv//swe
MEDICAL AND HEALTH SCIENCES Medical Biotechnology Biomedical Laboratory Science/Technology hsv//eng
coagulation factors
gene regulation
hemostasis
single nucleotide polymorphisms
thrombosis
genome-wide association
protease inhibitor gene
von-willebrand-factor
ischemic-stroke
risk-factor
f12 gene
venous thromboembolism
aging
research
t-allele
loci
Hematology
Cardiovascular System & Cardiology

Biuppslag (personer, institutioner, konferenser, titlar ...)

Hansson, L. (författare)
Klasson, SofiaGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology (författare)
Davila Lopez, MarcelaGothenburg University,Göteborgs universitet,Core Facilities, Bioinformatics,Core Facilities, Bioinformatics(Swepub:gu)xdavma (författare)
Jern, Christina,1962Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine(Swepub:gu)xjerch (författare)
Stanne, Tara M,1979Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine(Swepub:gu)xmcdta (författare)
Göteborgs universitetInstitutionen för biomedicin (creator_code:org_t)

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Ingår i:Thrombosis and Haemostasis: Georg Thieme Verlag KG119:7, s. 1072-10830340-62452567-689X

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Av författaren/redakt...: Olsson Lindvall, ...; Hansson, L.; Klasson, Sofia; Davila Lopez, Ma ...; Jern, Christina, ...; Stanne, Tara M, ...

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Av lärosätet: Göteborgs universitet

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