Association between manganese superoxide dismutase promoter gene polymorphism and breast cancer survival

Abstract

Background Manganese superoxide dismutase (MnSOD) plays a critical role in the detoxification of mitochondrial reactive oxygen species, constituting a major cellular defense mechanism against agents that induce oxidative stress. A genetic polymorphism in the mitochondrial targeting sequence of this gene has been associated with increased cancer risk and survival in breast cancer. This base pair transition (-9 T > C) leads to a valine to alanine amino acid change in the mitochondrial targeting sequence. A polymorphism has also been identified in the proximal region of the promoter (-102 C>T) that alters the recognition sequence of the AP-2 transcription factor, leading to a reduction in transcriptional activity. The aim of our study was to investigate possible associations of the -102 C>T polymorphism with overall and relapse-free breast cancer survival in a hospital-based case-only study.

Relationships between single nucleotide polymorphisms of antioxidant enzymes and disease

“…The rs5746136 SOD2 SNP produces an A > G substitution that has been associated with an increased risk of Alzheimer's disease (Wiener et al, 2007). Finally, a recently described mutation in the promoter region changes C > T at position − 102, and hence, does not code for amino acids (Martin et al, 2004(Martin et al, , 2005(Martin et al, , 2006. This SNP is not yet referenced in the NCBI database but the resulting SNP genotype has been associated with a positive outcome in breast cancer patients receiving radiotherapy (Martin et al, 2006).…”

Manganese Superoxide Dismutase Is a Promising Target for Enhancing Chemosensitivity of Basal-Like Breast Carcinoma

“…It also provides an explanation for other studies that associated MnSOD deficiencies to an increase in intracellular ROS production (45,67,70). …”

Active and passive smoking, IL6, ESR1, and breast cancer risk

“…Studies have examined genes that regulate metabolizing enzymes such as NAT2 and CYP1A1 [2,5,[8][9][10]. Other genes such as MnSOD have been examined because it may influence susceptibility to cigarette smoking because of their influence on oxidative stress [11,12]. However given the general null findings from the majority of these studies, it is possible that other genes involved in other pathways may be important in defining the cigarette smoking risk with breast cancer.…”