Investigation of the Association of HOTAIR Single Nucleotide Polymorphisms and Risk of Breast Cancer in an Iranian Population

Long non coding RNAs (lncRNAs) are of functional non coding RNAs which have been shown to be involved in several important pathways in cancer development and progression. Among them is Hox transcript antisense intergenic RNA (HOTAIR) whose overexpression has been detected in several cancer types. In addition, its functional polymorphisms have been shown to be associated with breast cancer risk in certain populations.
The aim of the present study was to investigate the effects of three HOTAIR polymorphisms (rs12826786, rs1899663 and rs4759314) and their haplotypes on breast cancer risk in a sample of Iranian population.
This study is a case-control study which consisted of 122 unrelated breast cancer patients from Hamadan University hospital and 200 normal females who were referred to a routine health survey in 2015. Genomic DNA was extracted from blood samples of all participants using the standard salting out method. Tetra-primer ARMS-PCR method was used for analyses of rs12826786, rs1899663, and rs4759314 genotypes. Comparison of genotype and allele frequency between the breast cancer patients and the control group was performed using Pearson chi-square test considering odds ratio (OR) and 95% confidence intervals (CI) for calculation of the relative risk. Haplotype frequencies for HOTAIR were calculated using SNPStats online program.
No significant difference has been found in allele and genotype frequencies of polymorphisms between case and control groups. Furthermore, no specific HOTAIR haplotype was shown to be associated with breast cancer risk in the analyzed population.
These polymorphisms do not seem to be associated with breast cancer risk in this population. However, further research is needed to evaluate the results of the present study in larger patient samples.