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

Abstract

Background: 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. Objectives: 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. Methods: 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. Results: 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. Conclusions: 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.

The effect of long noncoding RNAs HOX transcript antisense intergenic RNA single‐nucleotide polymorphisms on breast cancer, cervical cancer, and ovarian cancer susceptibility: A meta‐analysis

“…Five studies [14][15][16]18,20 Figure S4; Figure 4). A subgroup analysis based on the genotyping method and ethnicity are shown in the Supporting Information Figures S5 and S6.…”

Long Non-coding RNAs as Regulators of the Mitogen-activated Protein Kinase (MAPK) Pathway in Cancer

“…Subsequently, they affect telomere biology, chromatin dynamics, genome structure organization [7], DNA repair [8] and tissue homeostasis [9]. They also participate in tumorigenesis process via different mechanisms, such as transcription repression [10], induction of epithelial-mesenchymal transition (EMT) [11], inhibition of tumor suppressors expression [12,13], over-expression of certain oncogenes [14,15], regulation of tumor-associated signal ing pathways [16] as well as modulation of tumor microenvironment [17]. Recently, a handful of lncRNAs have been shown to regulate the MAPK pathway through modulation of the expression of different proteins within this pathway.…”

Estudio de polimorfismos en non-coding RNA en Síndrome de cáncer de mama y ovario hereditario

“…El número de casos estudiados fue similar (Bayram et al, 2016). Un estudio sobre el SNP rs1899663 realizado en población iraní tampoco mostró resultados significativos que relacionaran la presencia de este polimorfismo con el riesgo de cáncer de mama (Khorshidi et al, 2017). Otro estudio relaciona la presencia del SNP rs2910164 con la aparición de cáncer de mama y ovario a edades tempranas (menores de 50) al combinar los genotipos GC+CC, obteniendo resultados significativos que relacionan la presencia del alelo C con estos dos tipos de cáncer (Shen et al, 2008 con el presente estudio podría deberse al tipo de población (la anterior es inglesa), además de que no se realizó tal combinación debido a la gran semejanza de genotipos entre controles y pacientes, ya que predominaba en ambos grupos el alelo no polimórfico.…”