Investigating the Role of rs1899663 G>T Polymorphism of HOTAIR Gene in Susceptibility to Breast Cancer

Background and Objective: Some single nucleotide polymorphisms of the HOTAIR gene are associated with various types of cancer, such as breast, ovarian, colorectal, and lung cancer. The HOTAIR gene product is a long non-coding RNA that is involved in the regulation of gene expression and apoptosis, and is therefore considered an oncogene. This study was conducted with the aim of investigating the rs1899663 G>T polymorphism in breast cancer susceptibility in the northwestern region of Iran. Methods: In this case-control study, the peripheral blood of 164 breast cancer patients referred to Tabriz hospitals and 172 healthy individuals was collected. After DNA extraction using saturated salt and proteinase K, single nucleotide polymorphism rs1899663 G>T of HOTAIR gene was investigated using tetra-primer ARMS-PCR. The association between this polymorphism and some clinical and pathological features of breast cancer including age, tumor type, tumor grade, tumor size, lymph node involvement and involved side was investigated. Findings: The frequency of GG, GT, TT genotypes in sick people was 33.4%, 55.6% and 11%, respectively and in healthy people was 51.7%, 42.3% and 6%, respectively. GG (p=0.001) and GT (p=0.029) genotypes showed a significant association with breast cancer. This polymorphism is not associated with any of the clinicopathological features of breast cancer in this population. Conclusion: Our data show that patients with GT and GG genotypes of rs1899663 G>T polymorphism of HOTAIR gene are more susceptible to breast cancer, while people with TT genotypes have a lower susceptibility to breast cancer development. The results of in silico analyses also show that these single nucleotide polymorphisms can increase the risk of breast cancer.