ArticlePloS one2013
Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 26 citations in OpenAlex.
- Review
- α-Actinin-1 in Megakaryocytes: Its Structure, Interacting Proteins and Implications for Thrombopoiesis.Biomedicines · 2025Review
- Ataxin-2: a powerful RNA-binding protein.Discover oncology · 2024Review
- The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.Journal of assisted reproduction and genetics · 2023Article
- The RNA-Binding Protein ATXN2 is Expressed during Megakaryopoiesis and May Control Timing of Gene Expression.International journal of molecular sciences · 2020Article
- Whole-exome sequencing in evaluation of patients with venous thromboembolism.Blood advances · 2017Article
- Novel Genes Affecting Blood Pressure Detected Via Gene-Based Association Analysis.G3 (Bethesda, Md.) · 2015Article
- The contribution of natural selection to present-day susceptibility to chronic inflammatory and autoimmune disease.Current opinion in immunology · 2014Review
- 12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?World journal of diabetes · 2014Review
- Geographical & seasonal variation in COVID-19 related mortality.The Indian journal of medical researchArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThrombotic antiphospholipid syndrome is defined as a complex form of thrombophilia that is developed by a fraction of antiphospholipid antibody (aPLA) carriers. Little is known about the genetic risk factors involved in thrombosis development among aPLA carriers.
methodsTo identify new loci conferring susceptibility to thrombotic antiphospholipid syndrome, a two-stage genotyping strategy was performed. In stage one, 19,000 CNV loci were genotyped in 14 thrombotic aPLA+ patients and 14 healthy controls by array-CGH. In stage two, significant CNV loci were fine-mapped in a larger cohort (85 thrombotic aPLA+, 100 non-thrombotic aPLA+ and 569 healthy controls).
resultsArray-CGH and fine-mapping analysis led to the identification of 12q24.12 locus as a new susceptibility locus for thrombotic APS. Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10(-4) OR 95% CI 1.84 (1.32-2.55)).
conclusionThe presence of a TAC risk haplotype in ATXN2-SH2B3 locus may contribute to increased thrombotic risk in aPLA carriers.
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