Retinoic acid-related orphan receptor alpha (RORA) variants and risk of breast cancer

Abstract

Background: Breast cancer is the most common type of cancer and the second leading cause of cancer death in females. Despite numerous studies in this field, the etiology and clinical behavior of breast tumors have not been understood yet. Retinoid orphan nuclear receptor alpha (RORA) is a member of the orphan nuclear factor family involved in the regulation of lipid and steroid metabolism, immune response and circadian rhythms. Recent evidences support its role as a tumor suppressor gene.

Objectives: To find the associations between RORA polymorphisms and breast cancer.

Methods: In the present study, we evaluated the association between two functional polymorphisms in RORA (rs11639084 and rs4774388) and breast cancer risk in a population of 122 Iranian breast cancer patients as well as 200 healthy subjects by means of tetra primer-amplification refractory mutation system-PCR (4P-ARMS-PCR) method.

Results: The rs4774388 has been shown to be associated with breast cancer risk in recessive inheritance model (OR (95% CI ) = 0.51 (0.26-0.97) and P = 0.041). However, the allele and genotype frequencies of rs11639084 were not different in patients and control (P > 0.05). Haplotype analysis revealed no significant association of any estimated block of rs11639084/rs4774388 in breast cancer patients versus healthy controls.

Conclusions: The results of this study support a putative role for RORA in breast cancer pathogenesis.

Keywords: RORA; breast cancer; polymorphism.