rs911160
This is a intron variant variant in the AURKA gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
▶Research that mentions this SNP (2)
▶Single nucleotide polymorphisms rs911160 in AURKA and rs2289590 in AURKB mitotic checkpoint genes contribute to gastric cancer susceptibilityFunctionalN=530Aner Mesic et al.(2017)· Environmental and Molecular Mutagenesis
This study analyzed AURKB (Aurora kinase B) gene expression in clear cell renal cell carcinoma (ccRCC) using TCGA database samples (n=530 patients) and found that AURKB was significantly overexpressed in ccRCC tissues compared to normal kidney tissues. High AURKB expression correlated with advanced histological grade, pathological stage, and worse overall survival (OS) and disease-free survival (DFS), with multivariate Cox analysis confirming AURKB as an independent prognostic factor (HR=1.09, p=2.76E-6 for OS; HR=1.07, p=0.020 for DFS). Gene set enrichment analysis identified 21 signaling pathways enriched in high AURKB expression phenotype, including intestinal immune network for IgA production and cytokine-cytokine receptor interaction.
▶Association of theAURKAandAURKCgene polymorphisms with an increased risk of gastric cancerAssociationN=439Aner Mesic et al.(2016)· IUBMB Life
Case-control study investigating AURKA gene polymorphisms and CNS tumor susceptibility in 191 Chinese children with CNS tumors and 248 controls. AURKA rs8173 G>C exhibited a protective effect against CNS tumor risk (GC/CC vs. GG: adjusted OR=0.68, 95% CI=0.46-0.998, p=0.049). Carriers with three protective genotypes showed a 0.55-fold reduction in CNS tumor risk (adjusted OR=0.55, 95% CI=0.31-0.98, p=0.044).
About AURKA
The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
View all AURKA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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