rs13409
This is a downstream gene variant variant in the POU5F1 gene.
▶Research that mentions this SNP (1)
▶Identification of miRSNPs associated with the risk of multiple myelomaAssociationN=4,726Angelica Macauda et al.(2017)· International Journal of Cancer
A genome-wide association study investigating miRNA-binding site SNPs (miRSNPs) in multiple myeloma susceptibility. Among 2,894 MM cases and 1,832 controls from the IMMEnSE consortium, two SNPs showed initial association (rs286595 in MRPL22, rs1419881 in TCF19). Meta-analysis with published GWAS data revealed significant associations for rs13409 (POU5F1, OR=0.92), rs1049623 (DDR1, OR=0.92), rs1049633 (DDR1, OR=0.87), and rs1419881 (TCF19, OR=0.91), all showing decreased MM risk.
About POU5F1
This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]
View all POU5F1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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