ArticleInternational journal of molecular sciences2017
Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients.
Article in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Integrative gene target mapping, RNA sequencing, in silico molecular docking, ADMET profiling and molecular dynamics simulation study of marine derived molecules for type 1 diabetes mellitus.Molecular diversity · 2026Article
- Silencing P2YCell communication and signaling : CCS · 2025Article
- Relationship between MTHFR C677T, homocysteine, and ischemic stroke in a large sample of the Han Chinese population.Medicine · 2022Article
- Diagnostic Performance of Circulating miRNAs and Extracellular Vesicles in Acute Ischemic Stroke.International journal of molecular sciences · 2022Article
- The Relation of the Brain-Derived Neurotrophic Factor with MicroRNAs in Neurodegenerative Diseases and Ischemic Stroke.Molecular neurobiology · 2021Review
- The role of P2Y12 receptor inhibition in ischemic stroke on microglia, platelets and vascular smooth muscle cells.Journal of thrombosis and thrombolysis · 2020Review
- Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans.NPJ genomic medicine · 2019Article
- Molecular Pharmacology and Pathology of Strokes.International journal of molecular sciences · 2018Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The contribution of low-frequency and damaging genetic variants associated with platelet function to ischemic stroke (IS) susceptibility remains unknown. We employed a deep re-sequencing approach in Polish patients in order to investigate the contribution of rare variants (minor allele frequency, MAF < 1%) to the IS genetic susceptibility in this population. The genes selected for re-sequencing consisted of 26 genes coding for proteins associated with the surface membrane of platelets. Targeted pooled re-sequencing (Illumina HiSeq 2500) was performed on genomic DNA of 500 cases (patients with history of clinically proven diagnosis of large-vessel IS) and 500 controls. After quality control and prioritization based on allele frequency and damaging probability, follow-up individual genotyping of deleterious rare variants was performed in patients from the original cohort. Gene-based analyses identified an association between IS and 6 rare functional and damaging variants in the purinergic genes (
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