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rs2448490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0.57x (reduced) risk for metastasis in LN-/ER+ breast cancer patients
(A;G) normal
(G;G) normal
ReferenceGRCh38 38.1/141
Chromosome11
Position65644564
GeneSIPA1
is asnp
is mentioned by
dbSNPrs2448490
ebirs2448490
HLIrs2448490
Exacrs2448490
Varsomers2448490
Maprs2448490
PheGenIrs2448490
hapmaprs2448490
1000 genomesrs2448490
hgdprs2448490
ensemblrs2448490
gopubmedrs2448490
geneviewrs2448490
scholarrs2448490
googlers2448490
pharmgkbrs2448490
gwascentralrs2448490
openSNPrs2448490
23andMers2448490
23andMe allrs2448490
SNP Nexus

SNPshotrs2448490
SNPdbers2448490
MSV3drs2448490
GWAS Ctlgrs2448490
GMAF0.2635
Max Magnitude
? (A;A) (A;G) (G;G) 28
rs2448490 is a SNP in the signal-induced proliferation-associated 1 SIPA1 gene.

In a study of 1,725 LN=/ER+ breast cancer patients rs2448490(A;A) homozygotes showed a reduced metastasis risk compared to rs2448490(G) allele carriers. This association was statistically significant for metastasis-free survival (MFS) in multivariate analysis [MFS hazard ratio 0.56, CI: 0.37–0.84, p=0.005) and overall survival (HR 0.59, CI:0.39–0.89, p=0.012)].[PMID 19825179OA-icon.png]

This study also found that rs2448490 can be combined with an independent predictor of metastasis free survival, rs9306160, to yield an even stronger prognostic. Specifically, the risk for developing distant metastasis was about 2.5-fold lower (hazard ratio 0.40, CI: 0.24-0.68, p=0.001) for LN-/ER+breast cancer patients who were rs2448490(A;A) and rs9306160(T) carriers compared to patients who were rs2448490(G) carriers and rs9306160(C;C). [PMID 19825179OA-icon.png]

[PMID 19089925OA-icon.png] Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosis.


[PMID 23661532] Sipa1 promoter polymorphism predicts risk and metastasis of lung cancer in Chinese