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Pregled bibliografske jedinice broj: 1042696

Defining the genetic control of human blood plasma N-glycome using genome-wide association study

Sharapov, Sodbo Z.; Tsepilov, Yakov A.; Klarić, Lucija; Mangino, Massimo; Thareja, Gaurav; Shadrina, Alexandra S.; Šimurina, Mirna; Dagostino, Concetta; Dmitrieva, Julia; Vilaj, Marija et al.
Defining the genetic control of human blood plasma N-glycome using genome-wide association study // Human molecular genetics, 28 (2019), 12; 2062-2077 doi:10.1093/hmg/ddz054 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1042696 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Defining the genetic control of human blood plasma N-glycome using genome-wide association study

Autori
Sharapov, Sodbo Z. ; Tsepilov, Yakov A. ; Klarić, Lucija ; Mangino, Massimo ; Thareja, Gaurav ; Shadrina, Alexandra S. ; Šimurina, Mirna ; Dagostino, Concetta ; Dmitrieva, Julia ; Vilaj, Marija ; Vučković, Frano ; Pavić, Tamara ; Štambuk, Jerko ; Trbojević-Akmačić, Irena ; Kristić, Jasminka ; Šimunović, Jelena ; Momčilović, Ana ; Campbell, Harry ; Doherty, Margaret ; Dunlop, Malcolm G. ; Farrington, Susan M. ; Pučić-Baković, Maja ; Gieger, Christian ; Allegri, Massimo ; Louis, Edouard ; Georges, Michel ; Suhre, Karsten ; Spector, Tim ; Williams, Frances M.K. ; Lauc, Gordan ; Aulchenko, Yurii S.

Izvornik
Human molecular genetics (0964-6906) 28 (2019), 12; 2062-2077

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
gene expression regulation ; genes ; genome ; glycosylation ; plasma ; single nucleotide polymorphism ; polysaccharides ; immunoglobulin g ; enzymes ; plasma proteins ; genome-wide association study

Sažetak
Glycosylation is a common post-translational modification of proteins. Glycosylation is associated with a number of human diseases. Defining genetic factors altering glycosylation may provide a basis for novel approaches to diagnostic and pharmaceutical applications. Here we report a genome-wide association study of the human blood plasma N-glycome composition in up to 3811 people measured by Ultra Performance Liquid Chromatography (UPLC) technology. Starting with the 36 original traits measured by UPLC, we computed an additional 77 derived traits leading to a total of 113 glycan traits. We studied associations between these traits and genetic polymorphisms located on human autosomes. We discovered and replicated 12 loci. This allowed us to demonstrate an overlap in genetic control between total plasma protein and IgG glycosylation. The majority of revealed loci contained genes that encode enzymes directly involved in glycosylation (FUT3/FUT6, FUT8, B3GAT1, ST6GAL1, B4GALT1, ST3GAL4, MGAT3 and MGAT5) and a known regulator of plasma protein fucosylation (HNF1A). However, we also found loci that could possibly reflect other more complex aspects of glycosylation process. Functional genomic annotation suggested the role of several genes including DERL3, CHCHD10, TMEM121, IGH and IKZF1. The hypotheses we generated may serve as a starting point for further functional studies in this research area.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Projekti:
EK-FP7-602736 - Multi-dimensional omics approach to stratification of patients with low back pain (PAIN-OMICS) (Primorac, Dragan; Lauc, Gordan, EK - FP7-HEALTH-2013-INNOVATION-1) ( CroRIS)
EK-KF-KK.01.1.1.01.0003 - STIM-REI (STIM-REI) (Bonačić-Koutecky, Vlasta; Smital, Tvrtko; Orlić, Sandi, EK - KK.01.1.1.01) ( CroRIS)
EK-KF-KK.01.1.1.01.0010 - Znanstveni centar izvrsnosti za personaliziranu brigu o zdravlju (ZCIPersonHealth) (Polašek, Ozren; Secenji, Aleksandar, EK ) ( CroRIS)

Ustanove:
Farmaceutsko-biokemijski fakultet, Zagreb,
GENOS d.o.o.

Profili:

Avatar Url Jasminka Krištić (autor)

Avatar Url JERKO ŠTAMBUK (autor)

Avatar Url Gordan Lauc (autor)

Avatar Url Maja Pučić Baković (autor)

Avatar Url IRENA TRBOJEVIĆ AKMAČIĆ (autor)

Avatar Url Frano Vučković (autor)

Avatar Url Marija Vilaj (autor)

Avatar Url Jelena Šimunović (autor)

Poveznice na cjeloviti tekst rada:

doi academic.oup.com

Citiraj ovu publikaciju:

Sharapov, Sodbo Z.; Tsepilov, Yakov A.; Klarić, Lucija; Mangino, Massimo; Thareja, Gaurav; Shadrina, Alexandra S.; Šimurina, Mirna; Dagostino, Concetta; Dmitrieva, Julia; Vilaj, Marija et al.
Defining the genetic control of human blood plasma N-glycome using genome-wide association study // Human molecular genetics, 28 (2019), 12; 2062-2077 doi:10.1093/hmg/ddz054 (međunarodna recenzija, članak, znanstveni)
Sharapov, S., Tsepilov, Y., Klarić, L., Mangino, M., Thareja, G., Shadrina, A., Šimurina, M., Dagostino, C., Dmitrieva, J. & Vilaj, M. (2019) Defining the genetic control of human blood plasma N-glycome using genome-wide association study. Human molecular genetics, 28 (12), 2062-2077 doi:10.1093/hmg/ddz054.
@article{article, author = {Sharapov, Sodbo Z. and Tsepilov, Yakov A. and Klari\'{c}, Lucija and Mangino, Massimo and Thareja, Gaurav and Shadrina, Alexandra S. and \v{S}imurina, Mirna and Dagostino, Concetta and Dmitrieva, Julia and Vilaj, Marija and Vu\v{c}kovi\'{c}, Frano and Pavi\'{c}, Tamara and \v{S}tambuk, Jerko and Trbojevi\'{c}-Akma\v{c}i\'{c}, Irena and Kristi\'{c}, Jasminka and \v{S}imunovi\'{c}, Jelena and Mom\v{c}ilovi\'{c}, Ana and Campbell, Harry and Doherty, Margaret and Dunlop, Malcolm G. and Farrington, Susan M. and Pu\v{c}i\'{c}-Bakovi\'{c}, Maja and Gieger, Christian and Allegri, Massimo and Louis, Edouard and Georges, Michel and Suhre, Karsten and Spector, Tim and Williams, Frances M.K. and Lauc, Gordan and Aulchenko, Yurii S.}, year = {2019}, pages = {2062-2077}, DOI = {10.1093/hmg/ddz054}, keywords = {gene expression regulation, genes, genome, glycosylation, plasma, single nucleotide polymorphism, polysaccharides, immunoglobulin g, enzymes, plasma proteins, genome-wide association study}, journal = {Human molecular genetics}, doi = {10.1093/hmg/ddz054}, volume = {28}, number = {12}, issn = {0964-6906}, title = {Defining the genetic control of human blood plasma N-glycome using genome-wide association study}, keyword = {gene expression regulation, genes, genome, glycosylation, plasma, single nucleotide polymorphism, polysaccharides, immunoglobulin g, enzymes, plasma proteins, genome-wide association study} }
@article{article, author = {Sharapov, Sodbo Z. and Tsepilov, Yakov A. and Klari\'{c}, Lucija and Mangino, Massimo and Thareja, Gaurav and Shadrina, Alexandra S. and \v{S}imurina, Mirna and Dagostino, Concetta and Dmitrieva, Julia and Vilaj, Marija and Vu\v{c}kovi\'{c}, Frano and Pavi\'{c}, Tamara and \v{S}tambuk, Jerko and Trbojevi\'{c}-Akma\v{c}i\'{c}, Irena and Kristi\'{c}, Jasminka and \v{S}imunovi\'{c}, Jelena and Mom\v{c}ilovi\'{c}, Ana and Campbell, Harry and Doherty, Margaret and Dunlop, Malcolm G. and Farrington, Susan M. and Pu\v{c}i\'{c}-Bakovi\'{c}, Maja and Gieger, Christian and Allegri, Massimo and Louis, Edouard and Georges, Michel and Suhre, Karsten and Spector, Tim and Williams, Frances M.K. and Lauc, Gordan and Aulchenko, Yurii S.}, year = {2019}, pages = {2062-2077}, DOI = {10.1093/hmg/ddz054}, keywords = {gene expression regulation, genes, genome, glycosylation, plasma, single nucleotide polymorphism, polysaccharides, immunoglobulin g, enzymes, plasma proteins, genome-wide association study}, journal = {Human molecular genetics}, doi = {10.1093/hmg/ddz054}, volume = {28}, number = {12}, issn = {0964-6906}, title = {Defining the genetic control of human blood plasma N-glycome using genome-wide association study}, keyword = {gene expression regulation, genes, genome, glycosylation, plasma, single nucleotide polymorphism, polysaccharides, immunoglobulin g, enzymes, plasma proteins, genome-wide association study} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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