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Article

rs77283072 influences breast cancer susceptibility by regulating CDKN2A expression

  • Authors:
    • Guang-Huan He
    • Shao-Dong Liu
    • Xiao-Qian Shi
    • Ying Chen
    • Li Su
    • Qiao-Na Shi
    • Chang Sun
  • View Affiliations / Copyright

    Affiliations: College of Life Sciences, Shaanxi Normal University, Xi'an, Shaanxi 710119, P.R. China
  • Article Number: 76
    |
    Published online on: January 5, 2023
       https://doi.org/10.3892/ol.2023.13662
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Abstract

Breast cancer is the cancer type with the highest morbidity rates in women, and previous genome‑wide association studies (GWASs) have suggested that the single nucleotide polymorphism (SNP) rs1011970 is significantly associated with this disease. An analysis of data from the 1000 Genomes Project demonstrated that there is an SNP, rs77283072, in almost complete linkage disequilibrium with rs1011970, which should therefore present the same signal in a GWAS. However, the actual causal SNP and its associated underlying mechanism have yet to be elucidated. Therefore, the present study evaluated the role of rs77283072 in terms of its association with breast cancer. A dual‑luciferase assay was performed, which demonstrated that the two alleles of rs1011970 did not exhibit significantly different reporter gene activity. However, the A allele of rs77283072 exhibited a significant increase in relative luciferase activity compared with the G allele, which suggested that rs77283072 was the causal SNP for breast cancer. Chromosome conformation capture demonstrated that the enhancer containing rs77283072 interacted with the promoter of cyclin‑dependent kinase inhibitor 2A (CDKN2A). Furthermore, expression quantitative trait locus analysis demonstrated that the expression of CDKN2A was dependent on the genotype of rs77283072. Taken together, the findings of the present study provided novel insights into the mechanism underlying how the genetic variation in this locus was able to influence breast cancer susceptibility and further the treatment for this disease.
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Copy and paste a formatted citation
Spandidos Publications style
He G, Liu S, Shi X, Chen Y, Su L, Shi Q and Sun C: rs77283072 influences breast cancer susceptibility by regulating <em>CDKN2A</em> expression. Oncol Lett 25: 76, 2023.
APA
He, G., Liu, S., Shi, X., Chen, Y., Su, L., Shi, Q., & Sun, C. (2023). rs77283072 influences breast cancer susceptibility by regulating <em>CDKN2A</em> expression. Oncology Letters, 25, 76. https://doi.org/10.3892/ol.2023.13662
MLA
He, G., Liu, S., Shi, X., Chen, Y., Su, L., Shi, Q., Sun, C."rs77283072 influences breast cancer susceptibility by regulating <em>CDKN2A</em> expression". Oncology Letters 25.2 (2023): 76.
Chicago
He, G., Liu, S., Shi, X., Chen, Y., Su, L., Shi, Q., Sun, C."rs77283072 influences breast cancer susceptibility by regulating <em>CDKN2A</em> expression". Oncology Letters 25, no. 2 (2023): 76. https://doi.org/10.3892/ol.2023.13662
Copy and paste a formatted citation
x
Spandidos Publications style
He G, Liu S, Shi X, Chen Y, Su L, Shi Q and Sun C: rs77283072 influences breast cancer susceptibility by regulating <em>CDKN2A</em> expression. Oncol Lett 25: 76, 2023.
APA
He, G., Liu, S., Shi, X., Chen, Y., Su, L., Shi, Q., & Sun, C. (2023). rs77283072 influences breast cancer susceptibility by regulating <em>CDKN2A</em> expression. Oncology Letters, 25, 76. https://doi.org/10.3892/ol.2023.13662
MLA
He, G., Liu, S., Shi, X., Chen, Y., Su, L., Shi, Q., Sun, C."rs77283072 influences breast cancer susceptibility by regulating <em>CDKN2A</em> expression". Oncology Letters 25.2 (2023): 76.
Chicago
He, G., Liu, S., Shi, X., Chen, Y., Su, L., Shi, Q., Sun, C."rs77283072 influences breast cancer susceptibility by regulating <em>CDKN2A</em> expression". Oncology Letters 25, no. 2 (2023): 76. https://doi.org/10.3892/ol.2023.13662
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