Background <p>Breast cancer (BC) is the most malignancy diagnosed cancer worldwide. Antisense non-coding RNA(ANRIL) and Growth arrest specific-5(GAS-5) are types of Long non-coding RNAs(lncRNAs) that are essential regulators for BC development. Several single nucleotide polymorphisms (SNPs) in ANRIL and GAS-5 genes are associated with BC pathophysiology.</p> Aim of work <p>To measure levels of ANRIL and GAS-5 in patients with BC compared to controls. Also, investigate the distribution of SNP (rs11515) and (rs145204276) genotypes with the clinic-pathological parameters of patients.</p> Patients and methods <p>Thirty-five BC patients and 20 healthy-matched age individuals were enrolled in this study. Real-time PCR (RT-qPCR) for relative quantitation of gene expression levels of ANRIL and GAS-5 was used.</p> Results <p>ANRIL level was upregulated in patients group with median and interquartile (IQR) of 6.0(12.65). Meanwhile, GAS-5 was downregulated 0.46(0.58) with p &lt; 0.0001 and P = 0.006 respectively between BC patients and controls. For ANRIL (rs11515), the distribution of ‘CG’ genotype was the majority in both groups versus ‘CC’ and ‘GG’ genotypes. While for GAS-5(rs145204276), ‘ins/ins’ genotype was more frequent in BC group. For controls, ‘ins/ins’ and ‘ins/del’ genotypes were the most followed by ‘del/del’ genotype. A significant difference was detected between the two groups as regards to ‘ins/ins’ genotype (<i>p</i> &lt; 0.0001). ANRIL levels tended to decrease with the severity of the stage across all genotypes. While GAS-5 tended to increase with the severity across polymorphisms. There was a positive correlation between levels of biomarkers (ANRIL and GAS-5) ( (<i>r</i> = 0.497,<i>p</i> = 0.0024).</p> Conclusion <p>The association of ANRIL and GAS-5 with genotype polymorphism suggests a potential link between genotype variations, biomarkers expression and disease progression.</p>

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Expression patterns of ANRIL and GAS-5 and genetic variants in breast cancer

  • Ibrahim T. Ibrahim,
  • M. A. Kandeil,
  • Olfat G. Shaker,
  • Dalia Refaat,
  • Rasha M. Hussein

摘要

Background

Breast cancer (BC) is the most malignancy diagnosed cancer worldwide. Antisense non-coding RNA(ANRIL) and Growth arrest specific-5(GAS-5) are types of Long non-coding RNAs(lncRNAs) that are essential regulators for BC development. Several single nucleotide polymorphisms (SNPs) in ANRIL and GAS-5 genes are associated with BC pathophysiology.

Aim of work

To measure levels of ANRIL and GAS-5 in patients with BC compared to controls. Also, investigate the distribution of SNP (rs11515) and (rs145204276) genotypes with the clinic-pathological parameters of patients.

Patients and methods

Thirty-five BC patients and 20 healthy-matched age individuals were enrolled in this study. Real-time PCR (RT-qPCR) for relative quantitation of gene expression levels of ANRIL and GAS-5 was used.

Results

ANRIL level was upregulated in patients group with median and interquartile (IQR) of 6.0(12.65). Meanwhile, GAS-5 was downregulated 0.46(0.58) with p < 0.0001 and P = 0.006 respectively between BC patients and controls. For ANRIL (rs11515), the distribution of ‘CG’ genotype was the majority in both groups versus ‘CC’ and ‘GG’ genotypes. While for GAS-5(rs145204276), ‘ins/ins’ genotype was more frequent in BC group. For controls, ‘ins/ins’ and ‘ins/del’ genotypes were the most followed by ‘del/del’ genotype. A significant difference was detected between the two groups as regards to ‘ins/ins’ genotype (p < 0.0001). ANRIL levels tended to decrease with the severity of the stage across all genotypes. While GAS-5 tended to increase with the severity across polymorphisms. There was a positive correlation between levels of biomarkers (ANRIL and GAS-5) ( (r = 0.497,p = 0.0024).

Conclusion

The association of ANRIL and GAS-5 with genotype polymorphism suggests a potential link between genotype variations, biomarkers expression and disease progression.