ArticlePloS one2020
ADAMTS12, a new candidate gene for pediatric stroke.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.
- Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.British journal of haematology · 2023Pooled it
- Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels.Communications biology · 2022Pooled it
- Decorin inhibits the migration and invasion of the LPS + high glucose-induced primary trophoblast cell through ADAMTS12.In vitro cellular & developmental biology. Animal · 2026Article
- Decoding Stroke Etiology: Multi-Omics Advancements in Genetic Mechanisms and Clinical Implication.Brain and behavior · 2025Review
- ADAMTS12 serves as a novel prognostic biomarker and promotes proliferation and invasion in gastric cancer.Discover oncology · 2024Article
- Epigenetic regulatory mechanism of ADAMTS12 expression in osteoarthritis.Molecular medicine (Cambridge, Mass.) · 2023Article
- The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.International journal of molecular sciences · 2022Review
- Global proteomic analysis of extracellular matrix in mouse and human brain highlights relevance to cerebrovascular disease.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2021Article
- An integrated comparative physiology and molecular approach pinpoints mediators of breath-hold capacity in dolphins.Evolution, medicine, and public health · 2021Article
- ADAMTS-12: Functions and Challenges for a Complex Metalloprotease.Frontiers in molecular biosciences · 2021Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We recently reported a family-based genome wide association study (GWAS) for pediatric stroke pointing our attention to two significantly associated genes of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) gene family ADAMTS2 (rs469568, p = 8x10-6) and ADAMTS12 (rs1364044, p = 2.9x10-6). To further investigate these candidate genes, we applied a targeted resequencing approach on 48 discordant sib-pairs for pediatric stroke followed by genotyping of the detected non-synonymous variants in the full cohort of 270 offspring trios and subsequent fine mapping analysis. We identified eight non-synonymous SNPs in ADAMTS2 and six in ADAMTS12 potentially influencing the respective protein function. These variants were genotyped within a cohort of 270 affected offspring trios, association analysis revealed the ADAMTS12 variant rs77581578 to be significantly under-transmitted (p = 6.26x10-3) to pediatric stroke patients. The finding was validated in a pediatric venous thromboembolism (VTE) cohort of 189 affected trios. Subsequent haplotype analysis of ADAMTS12 detected a significantly associated haplotype comprising the originally identified GWAS variant. Several ADAMTS genes such as ADAMTS13 are involved in thromboembolic disease process. Here, we provide further evidence for ADAMTS12 to likely play a role in pediatric stroke. Further functional studies are warranted to assess the functional role of ADAMTS12 in the pathogenesis of stroke.
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