rs613120
This is a intron variant variant in the PGR gene.
▶Research that mentions this SNP (1)
▶Bladder cancer SNP panel predicts susceptibility and survivalAssociationN=2,023Angeline S. Andrew et al.(2009)· Human Genetics
A population-based case-control study of 832 bladder cancer cases and 1,191 controls examining SNPs in cancer-regulatory pathways identified increased risk associated with MTHFD2 (OR 1.7, 95% CI 1.3-2.3), TEP1 (OR 1.8, 95% CI 1.2-2.6), and decreased risk with IL8RB (OR 0.6, 95% CI 0.5-0.9). Survival analysis found shorter survival with CASP9 variants (HR 1.8, 95% CI 1.1-3.0) and longer survival with EPHX1 variants (HR 0.4, 95% CI 0.2-0.8). Multi-SNP combinations in metabolism, DNA repair, telomerase, and apoptosis pathways were also predictive of bladder cancer risk and prognosis.
About PGR
This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]
View all PGR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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