rs1050631 - SLC39A6

Magnitude 2.8 · 1 study on file

Reported associations

• Genome-wide association study identifies common variants in SLC39A6 associated with length of survival in esophageal squamous-cell carcinoma. - Nature genetics (2013) · Wu C, Li D, Jia W, Hu Z, Zhou Y, Yu D, Tong T, Wang M, Lin D, Qiao Y, Zhou Y, Chang J, Zhai K, Wang M, Wei L, Tan W, Shen H, Zeng Y, Lin D · PubMed 23644492

  We conducted a genome-wide scan of SNPs to identify variants associated with length of survival in 1,331 individuals with esophageal squamous-cell carcinoma (ESCC), with associations validated in 2 independent sets including 1,962 individuals with this cancer. We identified rs1050631 in SLC39A6 as associated with the survival times of affected individuals, with the hazard ratio for death from ESCC in the combined sample being 1.30 (95% confidence interval (CI) = 1.19-1.43; P = 3.77 × 10(-8)). rs7242481, located in the 5' UTR of SLC39A6, disturbs a transcriptional repressor binding site and results in upregulation of SLC39A6 expression. Immunohistochemical staining of ESCC tissues showed that higher expression of SLC39A6 protein was correlated with shorter length of survival in individuals

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