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1. ADAMTS12, a new candidate gene for pediatric stroke.

Author

Anika Witten, Frank Rühle, Marlous de Witt, Andrei Barysenka, Michael Stach, Ralf Junker, Ulrike Nowak-Göttl, and Monika Stoll

Subjects
Medicine, Science
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.

Published
2020
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2. ADAMTS12, a new candidate gene for pediatric stroke

Author

Witten, Anika, Rühle, Frank, de Witt, Marlous, Barysenka, Andrei, Stach, Michael, Junker, Ralf, Nowak-Göttl, Ulrike, Stoll, Monika, Universitäts- und Landesbibliothek Münster, Biochemie, RS: FHML MaCSBio, and RS: Carim - B01 Blood proteins & engineering

Subjects
Male, Heredity, 610 Medicine and health, Single Nucleotide Polymorphisms, VARIANTS, Pediatrics, Vascular Medicine, Haplotypes, Stroke, Genome-wide association studies, Single nucleotide polymorphisms, Genotyping, Alleles, Venous thromboembolism, Medical Conditions, ADAMTS Proteins, Medicine and Health Sciences, Child, RISK, ASSOCIATION, Genomics, Venous Thromboembolism, Genetic Mapping, Neurology, Medicine and health, Medicine, Female, CONTRIBUTE, Research Article, Genotype, Science, Cerebrovascular Diseases, Research and Analysis Methods, Polymorphism, Single Nucleotide, Thromboembolism, LINKAGE, Genetics, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, ddc:610, Molecular Biology Techniques, Molecular Biology, Biology and Life Sciences, Computational Biology, Human Genetics, FRAMEWORK, Genome Analysis, Genetic Loci, Genome-Wide Association Study
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., Finanziert durch den Open-Access-Publikationsfonds der Westfälischen Wilhelms-Universität Münster (WWU Münster).

Published
2020

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