Effect of HOTAIR rs920778 polymorphism on breast cancer susceptibility and clinicopathologic features in a Turkish population

• DOI: 10.1007/s13277-014-3028-0
• Publication Date: 2015-01-13T00:26:46Z
• Authors: Süleyman Bayram; Ahmet Taner Sümbül; Celal Yücel Batmacı; Ahmet Genç
• Keywords: Adult; 0301 basic medicine; Turkey; Breast Neoplasms; Middle Aged; Prognosis; Polymorphism, Single Nucleotide; Introns; 3. Good health; 03 medical and health sciences; Genetics, Population; Risk Factors; Lymphatic Metastasis; Humans; Female; Genetic Predisposition to Disease; RNA, Long Noncoding; Genetic Association Studies; Aged

Overexpression of Hox transcript antisense intergenic RNA (HOTAIR), a long non-coding RNA (lncRNA), is associated with cancer cell proliferation, invasion, progression, and metastasis as well as poor survival in a variety of human cancers including breast cancer (BC). A common functional single nucleotide polymorphism (SNP) rs920778 (T → C) in the intronic enhancer of the HOTAIR has been reported to influence HOTAIR expression and cancer predisposition, but the association of HOTAIR rs920778 polymorphism with BC susceptibility and clinicopathological features has yet to be investigated. We genotyped HOTAIR rs920778 polymorphism in 245 Turkish women including 123 BC patients and 122 age-matched healthy controls by a real-time polymerase chain reaction (PCR) with the TaqMan assay. We found that the CC genotype of HOTAIR rs920778 polymorphism significantly increased the risk of BC in both codominant (odds ratio (OR) = 2.12, 95 % confidence interval (CI) 1.00-4.51, P = 0.05) and recessive (OR = 2.40, 95 % CI 1.22-4.73, P = 0.01) inheritance genetic models. Our research also indicated an association between the CC genotype of HOTAIR rs920778 polymorphism and clinicopathologic features of tumor, including advanced tumor-node-metastasis (TNM) stage, larger tumor size, distant metastasis, and poor histological grade (P < 0.05). Because our findings suggest for the first time that the CC genotype of HOTAIR rs920778 polymorphism might play important roles in genetic susceptibility to BC development and aggressiveness in a Turkish population, further independent studies are required to validate our findings in a larger series, as well as in patients of different populations.