rs2273535
This is a protein-altering variant in the AURKA gene.
▶ClinVar annotation
Colon cancer, susceptibility to; not provided; AURKA-related disorder
View on ClinVar →▶Research that mentions this SNP (4)
▶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).
▶Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor statusAssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis
A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).
▶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).
▶Consortium analysis of 7 candidate SNPs for ovarian cancerAssociationN=12,737Susan J. Ramus et al.(2008)· International Journal of Cancer
This consortium analysis of 14 case-control studies (4,624 ovarian cancer cases and 8,113 controls) evaluated 7 candidate SNPs (AURKA rs2273535, BRCA2 rs144848, RB1 rs2854344, CDKN2A rs2811712, SRD5A2 rs523349/rs632148, CASP8 rs1045485, TGFB1 rs1982073) for association with ovarian cancer risk. Only RB1 rs2854344 showed a marginally significant association with decreased ovarian cancer risk (ordinal OR 0.88, 95% CI 0.79-1.00, p=0.041; dominant OR 0.87, 95% CI 0.76-0.98, p=0.025), while AURKA showed suggestive evidence when heterogeneous studies were excluded (ordinal OR 1.10, p=0.027). The other 5 SNPs showed no significant association, providing informative null results.
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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