Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism

Author:

Rühle Frank1ORCID,Witten Anika1,Barysenka Andrei1,Huge Andreas1,Arning Astrid1,Heller Christine2,Krümpel Anne3,Mesters Rolf4,Franke Andre5,Lieb Wolfgang6,Riemenschneider Mona1,Hiersche Milan1,Limperger Verena7,Nowak-Göttl Ulrike37,Stoll Monika18ORCID

Affiliation:

1. Genetic Epidemiology, Institute for Human Genetics, Westfälische Wilhelms University, Muenster, Germany;

2. Children’s Hospital, University Hospital Frankfurt, Frankfurt, Germany;

3. Pediatric Hematology and Oncology and

4. Division of Hematology and Oncology, Department of Medicine A, University Hospital of Muenster, Muenster, Germany;

5. Institute for Molecular Biology and

6. Institute of Epidemiology and Biobank PopGen, Christian-Albrechts University Kiel, Kiel, Germany;

7. Thrombosis & Hemostasis Treatment Center, Institute of Clinical Chemistry, University Hospital Schleswig-Holstein, Lubeck, Germany; and

8. Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands

Abstract

Key Points Our study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric VTE. Nonsynonymous variants in SMAP1 and RIMS1 are predicted as deleterious and may influence vesicle processing in blood cells.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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