Characterization of lncRNA LINC00520 and functional polymorphisms associated with breast cancer susceptibility in Chinese Han population.

BACKGROUND

The aim was to evaluate the association between the LINC00520 genetic polymorphisms and breast cancer (BC) susceptibility.

METHODS

Nine single-nucleotide polymorphisms (SNPs) on LINC00520 genotyping were performed in 504 BC patients and 505 cancer-free controls in Chinese Han population to study the relationship between LINC00520 polymorphism and BC susceptibility. qRT-PCR and luciferase tests were used to explore how rs12880540 affected the expression of LINC00520.

RESULTS

The genotype GG (OR:3.58, 95%CI:1.32-9.69) in rs8012083 increased the risk of triple-negative BC. The genotype GG (OR:0.31, 95%CI:0.14-0.69) in rs8012083, the genotype AA (OR:2.74, 95%CI:1.01-7.42) in rs2152275, and genotype TG (OR:1.62, 95%CI:1.04-2.52) in rs12880540 were associated with HER-2 status. The dominant (OR:0.65, 95%CI:0.45-0.95) and overdominant genetic model (OR:0.67, 95%CI:0.46-0.98) consistently showed that rs11622641 T was significantly associated with lower risk of BC. Similarly, the recessive genetic model (OR:1.57, 95%CI:1.07-2.30) of rs12880540 and the dominant (OR:1.62, 95%CI:1.24-2.11) and overdominant (OR:1.56, 95%CI:1.19-2.03) genetic model of rs2152278 may increase the risk of BC. The relative expression of LINC00520 increased linearly with the increase in the number of rs12880540 mutations. rs12880540 alleles were due to the interaction between LINC00520 and miR-3122 at T, but the mutation of rs12880540 G > T had no effect on the binding ability of LINC00520 and miR-3122.

CONCLUSION

A genetic variant of rs8012083 in LINC00520 may be used as a biomarker for triple-negative BC after further evaluation of diagnostic tests. The genetic variant of LINC00520 was related to the susceptibility of BC, and rs12880540 might affect the corresponding mRNA expression of lncRNA LINC00520.