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Genetic polymorphisms in miRNAs targeting the estrogen receptor and their effect on breast cancer risk

Giang T Nguyen-Dien1, Robert A Smith2, Larisa M Haupt2

  • 1Genomics Research Centre, Institute for Health and Biomedical Innovation, Queensland University of Technology, GPO Box 2434, Brisbane, Qld 4001, Australia ; School of Biotechnology, International University, Vietnam National University, Quarter 6, Linh Trung Ward, Thu Duc District, Ho Chi Minh City, Viet Nam.

Meta Gene
|January 22, 2015
PubMed

Insights

This study investigated single nucleotide polymorphisms (SNPs) in microRNA genes and their link to breast cancer risk in Australian women. The findings suggest these specific SNPs do not significantly impact breast cancer risk in this population.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Breast cancer is a leading global cancer in women, often linked to complex genetic factors and steroid hormone signaling.
  • MicroRNAs (miRNAs) regulate gene translation, and single nucleotide polymorphisms (SNPs) within miRNA genes may influence breast cancer development.
  • Estrogen receptor signaling is a key pathway implicated in breast cancer pathogenesis.

Purpose of the Study:

  • To investigate the association between specific SNPs in four miRNA genes (miR-148a, miR-221, miR-186, miR-152) targeting the estrogen receptor and breast cancer risk.
  • To analyze the frequency of these SNPs in Caucasian Australian women.
  • To determine if identified SNPs correlate with an altered risk of developing breast cancer.

Main Methods:

  • Genotyping of 487 Caucasian Australian women (262 breast cancer cases, 225 controls) using high-resolution melt (HRM) analysis and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  • Analysis of genotype and allele frequencies for six specific SNPs (rs6977848, rs199981120, rs185641358, rs113054794, rs66461782, rs12940701).

Main Results:

  • No statistically significant differences in genotype or allele frequencies were observed for SNPs rs6977848, rs66461782, and rs12940701 between breast cancer cases and controls (p > 0.05).
  • SNPs rs199981120, rs185641358, and rs113054794 were not detected in the studied Caucasian Australian population.
  • The results suggest that the tested SNPs do not appear to influence breast cancer risk in this cohort.

Conclusions:

  • The investigated SNPs (rs6977848, rs66461782, rs12940701) in miRNA genes targeting the estrogen receptor are unlikely to be significant risk factors for breast cancer in Caucasian Australian women.
  • The absence of SNPs rs199981120, rs185641358, and rs113054794 in this population indicates they are rare or non-existent in Caucasian Australians.
  • Further research may be needed to explore other genetic variations or populations for their role in breast cancer etiology.
Keywords:
Breast cancerSNPmiR-148amiR-152miR-186miR-221

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