Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels
The metalloprotease ADAMTS13 cleaves von Willebrand factor (VWF) in circulating blood, limiting the size of VWF multimers and regulating VWF activity. Abnormal regulation of VWF contributes to bleeding and to thrombotic disorders. ADAMTS13 levels in plasma are highly variable among healthy individua...
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Published in | Blood advances Vol. 1; no. 15; pp. 1037 - 1046 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
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United States
Elsevier Inc
27.06.2017
American Society of Hematology Elsevier |
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Abstract | The metalloprotease ADAMTS13 cleaves von Willebrand factor (VWF) in circulating blood, limiting the size of VWF multimers and regulating VWF activity. Abnormal regulation of VWF contributes to bleeding and to thrombotic disorders. ADAMTS13 levels in plasma are highly variable among healthy individuals, although the heritability and the genetic determinants of this variation are unclear. We performed genome-wide association studies of plasma ADAMTS13 concentrations in 3244 individuals from 2 independent cohorts of healthy individuals. The heritability of ADAMTS13 levels was between 59.1% (all individuals) and 83.5% (siblings only), whereas tobacco smoking was associated with a decrease in plasma ADAMTS13 levels. Meta-analysis identified common variants near the ADAMTS13 locus on chromosome 9q34.2 that were significantly associated with ADAMTS13 levels and collectively explained 20.0% of the variance. The top single nucleotide polymorphism (SNP), rs28673647, resides in an intron of ADAMTS13 (β, 6.7%; P = 1.3E-52). Conditional analysis revealed 3 additional independent signals represented by rs3739893 (β, −22.3%; P = 1.2E-30) and rs3124762 (β, 3.5%; P = 8.9E-9) close to ADAMTS13 and rs4075970 (β, 2.4%; P = 6.8E-9) on 21q22.3. Linkage analysis also identified the region around ADAMTS13 (9q34.2) as the top signal (LOD 3.5), consistent with our SNP association analyses. Two nonsynonymous ADAMTS13 variants in the top 2 independent linkage disequilibrium blocks (Q448E and A732V) were identified and characterized in vitro. This study uncovered specific common genetic polymorphisms that are key genetic determinants of the variation in plasma ADAMTS13 levels in healthy individuals.
•Three independent association signals at ADAMTS13 and smoking were identified as major predictors of plasma ADAMTS13 levels.•Evidence was presented that 2 nonsynonymous ADAMTS13 variants were driving the variation of plasma ADAMTS13 concentrations. |
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AbstractList | The metalloprotease ADAMTS13 cleaves von Willebrand factor (VWF) in circulating blood, limiting the size of VWF multimers and regulating VWF activity. Abnormal regulation of VWF contributes to bleeding and to thrombotic disorders. ADAMTS13 levels in plasma are highly variable among healthy individuals, although the heritability and the genetic determinants of this variation are unclear. We performed genome-wide association studies of plasma ADAMTS13 concentrations in 3244 individuals from 2 independent cohorts of healthy individuals. The heritability of ADAMTS13 levels was between 59.1% (all individuals) and 83.5% (siblings only), whereas tobacco smoking was associated with a decrease in plasma ADAMTS13 levels. Meta-analysis identified common variants near the
locus on chromosome 9q34.2 that were significantly associated with ADAMTS13 levels and collectively explained 20.0% of the variance. The top single nucleotide polymorphism (SNP), rs28673647, resides in an intron of
(β, 6.7%;
= 1.3E-52). Conditional analysis revealed 3 additional independent signals represented by rs3739893 (β, -22.3%;
= 1.2E-30) and rs3124762 (β, 3.5%;
= 8.9E-9) close to
and rs4075970 (β, 2.4%;
= 6.8E-9) on 21q22.3. Linkage analysis also identified the region around
(9q34.2) as the top signal (LOD 3.5), consistent with our SNP association analyses. Two nonsynonymous
variants in the top 2 independent linkage disequilibrium blocks (Q448E and A732V) were identified and characterized in vitro. This study uncovered specific common genetic polymorphisms that are key genetic determinants of the variation in plasma ADAMTS13 levels in healthy individuals. The metalloprotease ADAMTS13 cleaves von Willebrand factor (VWF) in circulating blood, limiting the size of VWF multimers and regulating VWF activity. Abnormal regulation of VWF contributes to bleeding and to thrombotic disorders. ADAMTS13 levels in plasma are highly variable among healthy individuals, although the heritability and the genetic determinants of this variation are unclear. We performed genome-wide association studies of plasma ADAMTS13 concentrations in 3244 individuals from 2 independent cohorts of healthy individuals. The heritability of ADAMTS13 levels was between 59.1% (all individuals) and 83.5% (siblings only), whereas tobacco smoking was associated with a decrease in plasma ADAMTS13 levels. Meta-analysis identified common variants near the ADAMTS13 locus on chromosome 9q34.2 that were significantly associated with ADAMTS13 levels and collectively explained 20.0% of the variance. The top single nucleotide polymorphism (SNP), rs28673647, resides in an intron of ADAMTS13 (β, 6.7%; P = 1.3E-52). Conditional analysis revealed 3 additional independent signals represented by rs3739893 (β, −22.3%; P = 1.2E-30) and rs3124762 (β, 3.5%; P = 8.9E-9) close to ADAMTS13 and rs4075970 (β, 2.4%; P = 6.8E-9) on 21q22.3. Linkage analysis also identified the region around ADAMTS13 (9q34.2) as the top signal (LOD 3.5), consistent with our SNP association analyses. Two nonsynonymous ADAMTS13 variants in the top 2 independent linkage disequilibrium blocks (Q448E and A732V) were identified and characterized in vitro. This study uncovered specific common genetic polymorphisms that are key genetic determinants of the variation in plasma ADAMTS13 levels in healthy individuals. The metalloprotease ADAMTS13 cleaves von Willebrand factor (VWF) in circulating blood, limiting the size of VWF multimers and regulating VWF activity. Abnormal regulation of VWF contributes to bleeding and to thrombotic disorders. ADAMTS13 levels in plasma are highly variable among healthy individuals, although the heritability and the genetic determinants of this variation are unclear. We performed genome-wide association studies of plasma ADAMTS13 concentrations in 3244 individuals from 2 independent cohorts of healthy individuals. The heritability of ADAMTS13 levels was between 59.1% (all individuals) and 83.5% (siblings only), whereas tobacco smoking was associated with a decrease in plasma ADAMTS13 levels. Meta-analysis identified common variants near the ADAMTS13 locus on chromosome 9q34.2 that were significantly associated with ADAMTS13 levels and collectively explained 20.0% of the variance. The top single nucleotide polymorphism (SNP), rs28673647, resides in an intron of ADAMTS13 (β, 6.7%; P = 1.3E-52). Conditional analysis revealed 3 additional independent signals represented by rs3739893 (β, -22.3%; P = 1.2E-30) and rs3124762 (β, 3.5%; P = 8.9E-9) close to ADAMTS13 and rs4075970 (β, 2.4%; P = 6.8E-9) on 21q22.3. Linkage analysis also identified the region around ADAMTS13 (9q34.2) as the top signal (LOD 3.5), consistent with our SNP association analyses. Two nonsynonymous ADAMTS13 variants in the top 2 independent linkage disequilibrium blocks (Q448E and A732V) were identified and characterized in vitro. This study uncovered specific common genetic polymorphisms that are key genetic determinants of the variation in plasma ADAMTS13 levels in healthy individuals. Three independent association signals at ADAMTS13 and smoking were identified as major predictors of plasma ADAMTS13 levels. Evidence was presented that 2 nonsynonymous ADAMTS13 variants were driving the variation of plasma ADAMTS13 concentrations. The metalloprotease ADAMTS13 cleaves von Willebrand factor (VWF) in circulating blood, limiting the size of VWF multimers and regulating VWF activity. Abnormal regulation of VWF contributes to bleeding and to thrombotic disorders. ADAMTS13 levels in plasma are highly variable among healthy individuals, although the heritability and the genetic determinants of this variation are unclear. We performed genome-wide association studies of plasma ADAMTS13 concentrations in 3244 individuals from 2 independent cohorts of healthy individuals. The heritability of ADAMTS13 levels was between 59.1% (all individuals) and 83.5% (siblings only), whereas tobacco smoking was associated with a decrease in plasma ADAMTS13 levels. Meta-analysis identified common variants near the ADAMTS13 locus on chromosome 9q34.2 that were significantly associated with ADAMTS13 levels and collectively explained 20.0% of the variance. The top single nucleotide polymorphism (SNP), rs28673647, resides in an intron of ADAMTS13 (β, 6.7%; P = 1.3E-52). Conditional analysis revealed 3 additional independent signals represented by rs3739893 (β, −22.3%; P = 1.2E-30) and rs3124762 (β, 3.5%; P = 8.9E-9) close to ADAMTS13 and rs4075970 (β, 2.4%; P = 6.8E-9) on 21q22.3. Linkage analysis also identified the region around ADAMTS13 (9q34.2) as the top signal (LOD 3.5), consistent with our SNP association analyses. Two nonsynonymous ADAMTS13 variants in the top 2 independent linkage disequilibrium blocks (Q448E and A732V) were identified and characterized in vitro. This study uncovered specific common genetic polymorphisms that are key genetic determinants of the variation in plasma ADAMTS13 levels in healthy individuals. Key Points Three independent association signals at ADAMTS13 and smoking were identified as major predictors of plasma ADAMTS13 levels. Evidence was presented that 2 nonsynonymous ADAMTS13 variants were driving the variation of plasma ADAMTS13 concentrations. The metalloprotease ADAMTS13 cleaves von Willebrand factor (VWF) in circulating blood, limiting the size of VWF multimers and regulating VWF activity. Abnormal regulation of VWF contributes to bleeding and to thrombotic disorders. ADAMTS13 levels in plasma are highly variable among healthy individuals, although the heritability and the genetic determinants of this variation are unclear. We performed genome-wide association studies of plasma ADAMTS13 concentrations in 3244 individuals from 2 independent cohorts of healthy individuals. The heritability of ADAMTS13 levels was between 59.1% (all individuals) and 83.5% (siblings only), whereas tobacco smoking was associated with a decrease in plasma ADAMTS13 levels. Meta-analysis identified common variants near the ADAMTS13 locus on chromosome 9q34.2 that were significantly associated with ADAMTS13 levels and collectively explained 20.0% of the variance. The top single nucleotide polymorphism (SNP), rs28673647, resides in an intron of ADAMTS13 (β, 6.7%; P = 1.3E-52). Conditional analysis revealed 3 additional independent signals represented by rs3739893 (β, −22.3%; P = 1.2E-30) and rs3124762 (β, 3.5%; P = 8.9E-9) close to ADAMTS13 and rs4075970 (β, 2.4%; P = 6.8E-9) on 21q22.3. Linkage analysis also identified the region around ADAMTS13 (9q34.2) as the top signal (LOD 3.5), consistent with our SNP association analyses. Two nonsynonymous ADAMTS13 variants in the top 2 independent linkage disequilibrium blocks (Q448E and A732V) were identified and characterized in vitro. This study uncovered specific common genetic polymorphisms that are key genetic determinants of the variation in plasma ADAMTS13 levels in healthy individuals. •Three independent association signals at ADAMTS13 and smoking were identified as major predictors of plasma ADAMTS13 levels.•Evidence was presented that 2 nonsynonymous ADAMTS13 variants were driving the variation of plasma ADAMTS13 concentrations. |
Author | Ozel, Ayse Bilge Ma, Qianyi McGee, Beth Ginsburg, David Li, Jun Z. Jacobi, Paula M. Desch, Karl C. Emmer, Brian T. Kimchi-Sarfaty, Chava Kretz, Colin A. |
Author_xml | – sequence: 1 givenname: Qianyi surname: Ma fullname: Ma, Qianyi organization: Department of Human Genetics, University of Michigan, Ann Arbor, MI – sequence: 2 givenname: Paula M. surname: Jacobi fullname: Jacobi, Paula M. organization: Department of Pediatrics and Communicable Disease, University of Michigan, Ann Arbor, MI – sequence: 3 givenname: Brian T. surname: Emmer fullname: Emmer, Brian T. organization: Department of Internal Medicine, University of Michigan, Ann Arbor, MI – sequence: 4 givenname: Colin A. surname: Kretz fullname: Kretz, Colin A. organization: Howard Hughes Medical Institute, University of Michigan, Ann Arbor, MI – sequence: 5 givenname: Ayse Bilge surname: Ozel fullname: Ozel, Ayse Bilge organization: Department of Human Genetics, University of Michigan, Ann Arbor, MI – sequence: 6 givenname: Beth surname: McGee fullname: McGee, Beth organization: Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI – sequence: 7 givenname: Chava surname: Kimchi-Sarfaty fullname: Kimchi-Sarfaty, Chava organization: Hemostasis Branch, Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, US Food and Drug Administration, Silver Spring, MD – sequence: 8 givenname: David surname: Ginsburg fullname: Ginsburg, David organization: Department of Human Genetics, University of Michigan, Ann Arbor, MI – sequence: 9 givenname: Jun Z. surname: Li fullname: Li, Jun Z. organization: Department of Human Genetics, University of Michigan, Ann Arbor, MI – sequence: 10 givenname: Karl C. surname: Desch fullname: Desch, Karl C. email: kdesch@med.umich.edu organization: Department of Pediatrics and Communicable Disease, University of Michigan, Ann Arbor, MI |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/29296746$$D View this record in MEDLINE/PubMed |
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Snippet | The metalloprotease ADAMTS13 cleaves von Willebrand factor (VWF) in circulating blood, limiting the size of VWF multimers and regulating VWF activity. Abnormal... Key Points Three independent association signals at ADAMTS13 and smoking were identified as major predictors of plasma ADAMTS13 levels. Evidence was presented... Three independent association signals at ADAMTS13 and smoking were identified as major predictors of plasma ADAMTS13 levels. Evidence was presented that 2... |
SourceID | doaj pubmedcentral proquest crossref pubmed elsevier |
SourceType | Open Website Open Access Repository Aggregation Database Index Database Publisher |
StartPage | 1037 |
SubjectTerms | Thrombosis and Hemostasis |
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Title | Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels |
URI | https://dx.doi.org/10.1182/bloodadvances.2017005629 https://www.ncbi.nlm.nih.gov/pubmed/29296746 https://search.proquest.com/docview/1984225021 https://pubmed.ncbi.nlm.nih.gov/PMC5728318 https://doaj.org/article/34d445472d274fd4b9422c0423282360 |
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