rs3130932
This is a regulatory region variant variant in the POU5F1 gene.
▶Research that mentions this SNP (1)
▶Significant association of combination of OCT4, NANOG, and SOX2 gene polymorphisms in susceptibility and response to treatment in North Indian breast cancer patientsAssociationN=570Sonam Tulsyan et al.(2014)· Cancer Chemotherapy and Pharmacology
Case-control study of 297 breast cancer patients and 273 healthy controls from north India examining embryonic stem cell gene polymorphisms. SOX2 rs11915160 (AC/CC genotypes, OR=2.71, p=0.031) and C allele (OR=2.67, p=0.031) were associated with premenopausal breast cancer risk. OCT4 rs3130932 showed protective effects (OR=0.63-0.68), and LIN28 rs4274112 was associated with positive lymph node status (OR=6.08 for genotype, OR=3.07 for allele, p=0.021). Gene combination analysis via MDR showed improved prediction models for breast cancer susceptibility.
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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