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Replication of 15 loci involved in human plasma protein N-glycosylation in 4802 samples from four cohorts.
Sharapov, Sodbo Zh; Shadrina, Alexandra S; Tsepilov, Yakov A; Elgaeva, Elizaveta E; Tiys, Evgeny S; Feoktistova, Sofya G; Zaytseva, Olga O; Vuckovic, Frano; Cuadrat, Rafael; Jäger, Susanne; Wittenbecher, Clemens; Karssen, Lennart C; Timofeeva, Maria; Tillin, Therese; Trbojevic-Akmacic, Irena; Stambuk, Tamara; Rudman, Najda; Kristic, Jasminka; Simunovic, Jelena; Momcilovic, Ana; Vilaj, Marija; Juric, Julija; Slana, Anita; Gudelj, Ivan; Klaric, Thomas; Puljak, Livia; Skelin, Andrea; Kadic, Antonia Jelicic; Van Zundert, Jan; Chaturvedi, Nishi; Campbell, Harry; Dunlop, Malcolm; Farrington, Susan M; Doherty, Margaret; Dagostino, Concetta; Gieger, Christian; Allegri, Massimo; Williams, Frances; Schulze, Matthias B; Lauc, Gordan; Aulchenko, Yurii S.
Afiliação
  • Sharapov SZ; Laboratory of Glycogenomics, Institute of Cytology and Genetics, Prospekt Akademika Lavrent'yeva, 10, Novosibirsk, 630090, Russia.
  • Shadrina AS; Laboratory of Glycogenomics, Institute of Cytology and Genetics, Prospekt Akademika Lavrent'yeva, 10, Novosibirsk, 630090, Russia.
  • Tsepilov YA; Laboratory of Theoretical and Applied Functional Genomics, Novosibirsk State University, Pirogova 1, Novosibirsk, 630090, Russia.
  • Elgaeva EE; Laboratory of Recombination and Segregation Analysis, Institute of Cytology and Genetics, Prospekt Akademika Lavrent'yeva, 10, Novosibirsk, 630090, Russia.
  • Tiys ES; Laboratory of Glycogenomics, Institute of Cytology and Genetics, Prospekt Akademika Lavrent'yeva, 10, Novosibirsk, 630090, Russia.
  • Feoktistova SG; Laboratory of Glycogenomics, Institute of Cytology and Genetics, Prospekt Akademika Lavrent'yeva, 10, Novosibirsk, 630090, Russia.
  • Zaytseva OO; Laboratory of Glycogenomics, Institute of Cytology and Genetics, Prospekt Akademika Lavrent'yeva, 10, Novosibirsk, 630090, Russia.
  • Vuckovic F; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Cuadrat R; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Jäger S; Department of Molecular Epidemiology, German Institute of Human Nutrition Potsdam- Rehbruecke, 14558 Nuthetal, Germany.
  • Wittenbecher C; Department of Molecular Epidemiology, German Institute of Human Nutrition Potsdam- Rehbruecke, 14558 Nuthetal, Germany.
  • Karssen LC; German Center for Diabetes Research (DZD), ngolstädter Landstraße 1, Neuherberg, 85764, Germany.
  • Timofeeva M; Department of Molecular Epidemiology, German Institute of Human Nutrition Potsdam- Rehbruecke, 14558 Nuthetal, Germany.
  • Tillin T; German Center for Diabetes Research (DZD), ngolstädter Landstraße 1, Neuherberg, 85764, Germany.
  • Trbojevic-Akmacic I; Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
  • Stambuk T; PolyOmica, s-Hertogenbosch 5237, The Netherlands.
  • Rudman N; Colon Cancer Genetics Group, Cancer Research UK Edinburgh Centre, Medical Research Council Institute of Genetics & Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Kristic J; D-IAS, Danish Institute for Advanced Study, Department of Public Health, University of Southern Denmark, , J.B. Winsløws Vej 9, DK-5000 Odense C, Denmark.
  • Simunovic J; MRC Unit for Lifelong Health & Ageing University College London, Gower Street, London, WC1E 6BT, UK.
  • Momcilovic A; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Vilaj M; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Juric J; Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, 10000, Croatia.
  • Slana A; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Gudelj I; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Klaric T; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Puljak L; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Skelin A; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Kadic AJ; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Van Zundert J; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Chaturvedi N; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Campbell H; Catholic University of Croatia, Ilica, 242 Zagreb, 10000, Croatia.
  • Dunlop M; Genos Glycoscience Research Laboratory, Borongajska cesta 83h, 10000 Zagreb, Croatia.
  • Farrington SM; St. Catherine Specialty Hospital, 10000 Zagreb & 49210, Zabok, Croatia.
  • Doherty M; University Hospital Center Split, Department of Pediatrics, Spinciceva ul. 1, Split, 21000, Croatia.
  • Dagostino C; Department of Anesthesiology and Multidisciplinary Paincentre, ZOL, Genk/Lanaken, Belgium.
  • Gieger C; Department of Anesthesiology and Pain Medicine, Maastricht University Medical Centre, P. Debyelaan 25, Maastricht, 6229 HX, The Netherlands.
  • Allegri M; MRC Unit for Lifelong Health & Ageing University College London, Gower Street, London, WC1E 6BT, UK.
  • Williams F; Colon Cancer Genetics Group, Cancer Research UK Edinburgh Centre, Medical Research Council Institute of Genetics & Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Schulze MB; Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh, Edinburgh EH8 9AG, UK.
  • Lauc G; Colon Cancer Genetics Group, Cancer Research UK Edinburgh Centre, Medical Research Council Institute of Genetics & Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Aulchenko YS; Colon Cancer Genetics Group, Cancer Research UK Edinburgh Centre, Medical Research Council Institute of Genetics & Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh EH4 2XU, UK.
Glycobiology ; 31(2): 82-88, 2021 02 09.
Article em En | MEDLINE | ID: mdl-32521004
Human protein glycosylation is a complex process, and its in vivo regulation is poorly understood. Changes in glycosylation patterns are associated with many human diseases and conditions. Understanding the biological determinants of protein glycome provides a basis for future diagnostic and therapeutic applications. Genome-wide association studies (GWAS) allow to study biology via a hypothesis-free search of loci and genetic variants associated with a trait of interest. Sixteen loci were identified by three previous GWAS of human plasma proteome N-glycosylation. However, the possibility that some of these loci are false positives needs to be eliminated by replication studies, which have been limited so far. Here, we use the largest set of samples so far (4802 individuals) to replicate the previously identified loci. For all but one locus, the expected replication power exceeded 95%. Of the 16 loci reported previously, 15 were replicated in our study. For the remaining locus (near the KREMEN1 gene), the replication power was low, and hence, replication results were inconclusive. The very high replication rate highlights the general robustness of the GWAS findings as well as the high standards adopted by the community that studies genetic regulation of protein glycosylation. The 15 replicated loci present a good target for further functional studies. Among these, eight loci contain genes encoding glycosyltransferases: MGAT5, B3GAT1, FUT8, FUT6, ST6GAL1, B4GALT1, ST3GAL4 and MGAT3. The remaining seven loci offer starting points for further functional follow-up investigation into molecules and mechanisms that regulate human protein N-glycosylation in vivo.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicosiltransferases / Proteínas de Membrana Tipo de estudo: Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Glycobiology Assunto da revista: BIOQUIMICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Federação Russa País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicosiltransferases / Proteínas de Membrana Tipo de estudo: Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Glycobiology Assunto da revista: BIOQUIMICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Federação Russa País de publicação: Reino Unido