rs1047972
This is a variant in the AURKA gene that changes a isoleucine to an valine.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶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).
▶Genetic polymorphisms in
AURKA
and
BRCA1
are associated with breast cancer susceptibility in a Chinese Han populationMeta-analysisN=37,221Yuan Ruan et al.(2011)· The Journal of Pathology
Meta-analysis of 37,221 subjects examining the association between AURKA polymorphisms (rs2273535 and rs1047972) and breast cancer risk. rs2273535 showed increased BC risk in overall population (OR=1.08, 95% CI=1.01-1.15) and in Asians (OR=1.36, 95% CI=1.06-1.73), while rs1047972 showed decreased BC risk in Caucasians (OR=0.81, 95% CI=0.66-0.99).
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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