rs11879293
This variant is located in the SMARCA4 gene.
▶Research that mentions this SNP (1)
▶The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension riskAssociationN=833Huijun Ma et al.(2019)· Molecular Genetics & Genomic Medicine
Case-control study of 350 hypertension patients and 483 controls in Chinese Han population examined 8 SNPs in ZC3HC1 and SMARCA4 genes. rs1464890 and rs4507692 in ZC3HC1 showed protective effects (OR=0.68-0.69, 0.65-0.66 in codominant/dominant models), as did rs11879293 and rs1122608 in SMARCA4 (OR=0.70, 0.61). The 'ATT' ZC3HC1 haplotype was associated with 0.75-fold decreased hypertension risk.
About SMARCA4
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
View all SMARCA4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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