ArticleHuman genetics2014
BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3.
Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Oxidative Stress-Related Genome-Wide Mendelian Randomization Identifies Causal Genes for Coronary Artery Disease.Cardiovascular therapeutics · 2026Pooled it
- Relationships of LDLR genetic polymorphisms with cerebral infarction: a meta-analysis.Molecular biology reports · 2014Pooled it
- Gastric SMARCA4-deficient undifferentiated tumor (SMARCA4-UT): a clinicopathological analysis of four rare cases.Orphanet journal of rare diseases · 2024Article
- The association between polymorphism of LDL-R gene and ischemic stroke risk in Chinese population: A meta-analysis.Heliyon · 2024Article
- Identifying shared genetic loci between coronavirus disease 2019 and cardiovascular diseases based on cross-trait meta-analysis.Frontiers in microbiology · 2022Article
- Biological function and molecular mechanism of SRSF3 in cancer and beyond.Oncology letters · 2022Review
- Functional rare variant in aAging · 2021Article
- ADAMTS16 activates latent TGF-β, accentuating fibrosis and dysfunction of the pressure-overloaded heart.Cardiovascular research · 2020Article
- Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4-subunit SCN4B with atrial fibrillation.Annals of human genetics · 2019Article
- miR-129-2-3p directly targets SYK gene and associates with the risk of ischaemic stroke in a Chinese population.Journal of cellular and molecular medicine · 2019Article
- Genomic Variants in NEURL, GJA1 and CUX2 Significantly Increase Genetic Susceptibility to Atrial Fibrillation.Scientific reports · 2018Article
- Significant genetic association of a functional TFPI variant with circulating fibrinogen levels and coronary artery disease.Molecular genetics and genomics : MGG · 2018Article
- Lack of association between theOncotarget · 2017Article
- Androgen inhibits key atherosclerotic processes by directly activating ADTRP transcription.Biochimica et biophysica acta. Molecular basis of disease · 2017Article
- De NovoJournal of the American Heart Association · 2017Article
- GWAB: a web server for the network-based boosting of human genome-wide association data.Nucleic acids research · 2017Article
- Genomic Variant in IL-37 Confers A Significant Risk of Coronary Artery Disease.Scientific reports · 2017Article
- Coronary artery disease susceptibility gene ADTRP regulates cell cycle progression, proliferation, and apoptosis by global gene expression regulation.Physiological genomics · 2016Article
- Genomic variant in CAV1 increases susceptibility to coronary artery disease and myocardial infarction.Atherosclerosis · 2016Article
- Molecular Basis of Gene-Gene Interaction: Cyclic Cross-Regulation of Gene Expression and Post-GWAS Gene-Gene Interaction Involved in Atrial Fibrillation.PLoS genetics · 2015Article
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Authors and funding
30 authors at 5 institutions in 2 countries.
Funding
Abstract
A single nucleotide polymorphism (SNP) rs1122608 on chromosome 19p13.2 and in the BRG1/SMARCA4 gene was previously associated with coronary artery disease (CAD). CAD and ischemic stroke are both associated with atherosclerosis. Thus, we tested the hypothesis that rs1122608 is associated with ischemic stroke. Further studies were used to identify the most likely mechanism by which rs1122608 regulates atherosclerosis. For case-control association studies, two independent Chinese Han GeneID cohorts were used, including a Central cohort with 1,075 cases and 2,685 controls and the Northern cohort with 1,208 cases and 824 controls. eQTL and real-time RT-PCR analyses were used to identify the potential candidate gene(s) affected by rs1122608. The minor allele T of SNP rs1122608 showed significant association with a decreased risk of ischemic stroke in the Central GeneID cohort (adjusted P adj = 2.1 × 10(-4), OR 0.61). The association was replicated in an independent Northern GeneID cohort (P adj = 6.00 × 10(-3), OR 0.69). The association became more significant in the combined population (P adj = 7.86 × 10(-5), OR 0.73). Allele T of SNP rs1122608 also showed significant association with a decreased total cholesterol level (P adj = 0.013). Allele T of rs1122608 was associated with an increased expression level of SFRS3 encoding an mRNA splicing regulator, but not with the expression of BRG1/SMARCA4 or LDLR (located 36 kb from rs1122608). Increased expression of SFSR3 may decrease IL-1β expression and secretion, resulting in reduced risk of atherosclerosis and stroke. This is the first study that demonstrates that rs1122608 confers protection against ischemic stroke and implicates splicing factor SFSR3 in the disease process.
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