A case–control study on the rs3130932 single nucleotide polymorphism in the OCT4B translation initiation codon in association with cancer state

Abstract

A previously characterized single nucleotide polymorphism (rs3130932) in the translation initiation codon of the OCT4B isoform of the human OCT4 gene, ATG → AGG, is expected to hamper its expression in individuals carrying the AGG genotype. A case-control association study was conducted to validate the AGG genotype as a risk factor for tumour development. Blood samples were collected from 221 female patients with breast cancer, 100 female patients with ovarian cancer, 109 male patients with lung cancer and 553 age-matched and sex-matched healthy individuals. DNA was tested by restriction fragment length polymorphism-PCR for the presence of rs3130932. Statistical association studies were carried out to investigate any association between hOCT4 genotypes and the onset of cancer. Genotypic and allelic statistical analyses led to no significant case-control differences at a P value of less than 0.05 in all different types of cancer, thus showing no significant correlation of the hOCT4 genotypes tested with breast, ovarian or lung cancer risk. The AGG genotype in rs3130932 is not associated with increased (or decreased) cancer risk in homozygous individuals. Research focusing on the elucidation of the biological roles of each OCT4 isoform is further warranted.

Significant association of combination of OCT4, NANOG, and SOX2 gene polymorphisms in susceptibility and response to treatment in North Indian breast cancer patients

“…We found protective effect of genetic variants of OCT4 rs3130932 polymorphism on breast cancer risk and hormone receptor status of cancer patients. On the contrary, a recent report found no association of rs3130932 polymorphism with breast cancer as well as few other cancers [28]. The deviation in results can be due to inter-ethnic differences, as the sample size in both the studies was comparable.…”

“…The OCT4, homeobox transcription factors of ESCs, has a critical role in the regulation of pluripotency. Based on the previous report [28], influence of OCT4B rs3130932 was evaluated in north Indian breast cancer subjects. We found protective effect of genetic variants of OCT4 rs3130932 polymorphism on breast cancer risk and hormone receptor status of cancer patients.…”

“…Instead, rs11915160 (MAF = 0.875) and rs3130932 (MAF = 0.358) of SOX2 and OCT4 genes were selected on the basis of previous reports [28,63,64].…”

“…Based on the previous reports, SNPs in OCT4 (rs3130932) and SOX2 (rs11915160) genes were selected for the present study [28,63,64]. However, tagger SNP approach in HapMap Gujarati Indians in Houston (GIH) population was performed to select SNPs in NANOG (rs11055786) and LIN28 (rs4274112) genes.…”

Conclusive Evidence for OCT4 Transcription in Human Cancer Cell Lines: Possible Role of a Small OCT4-Positive Cancer Cell Population

“…Previous studies reported that OCT4B and OCT4B1 encode the same protein, of which at least three isoforms (B265, B190, and B164) are produced by alternative translation initiation . Moreover, a single‐nucleotide polymorphism (SNP; rs3130932) in OCT4B , first ATG → AGG, is expected to result in reduced expression in individuals carrying the AGG genotype, although the AGG genotype in rs3130932 is not associated with increased (or decreased) cancer risk . Therefore, the functions of OCT4B and OCT4B1 in cancer remain largely unknown.…”