Geno
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Mag
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Summary
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(A;G)
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2
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1.18x increased risk for PCSM in patients with prostate cancer
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(G;G)
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2.5
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1.39x increased risk for PCSM in patients with prostate cancer
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rs11672691 is a SNP on chromosome 19 located between the ATP5SL and CEACAM21 genes and within LOC100505495, a possible noncoding RNA.[PMID 23065704]
A large study of over 10,000 patients with prostate cancer concluded that each rs11672691(G) allele was associated with an increased risk (by 1.18x) of prostate cancer specific mortality (PCSM), i.e. death from the cancer.[PMID 24411283]
A meta-analysis of 4 studies totaling ~6000 patients with prostate cancer and follow up in 49,000 samples concluded that rs11672691 was associated with increased susceptibility (odds ratio 1.12, CI:1.03–1.21, p = 1.4 x 10e-8) but also with aggressive prostate cancer and therefore a poorer prognosis.[PMID 23065704]
A study published in Cell in 2018 suggests that the rs11672691(G) variant acts to increase the transcript levels of PCAT19 and CEACAM21, two proteins associated with cell growth and tumor progression.[PMID 30033361]
GWAS snp
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PMID
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[PMID 23065704]
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Trait
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Prostate cancer
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Title
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A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.
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Risk Allele
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G
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P-val
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1E-8
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Odds Ratio
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1.11 [1.02-1.20]
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[PMID 30033362] Risk SNP-Mediated Promoter-Enhancer Switching Drives Prostate Cancer through lncRNA PCAT19.