A common functional C-T substitution polymorphism in the promoter region of the human catalase gene influences transcription factor binding, reporter gene transcription and is correlated to blood catalase levels

Polymorphisms of glutathione peroxidase 1 (GPX1 Pro198Leu) and catalase (CAT C-262T) in women with spontaneous abortion

“…Thus, any change in gene expression that enhances CAT activity, as the case in T/T genotype, may lead to efficient detoxification and prevention of spontaneous abortion [Forsberg et al 2001]. Consistent with this hypothesis, our results demonstrated that the risk of spontaneous abortion had increased in women with C/C genotype.…”

“…The most widely studied polymorphism of CAT results from C/T substitution at position À262. Forsberg et al [2001] reported that the T variant causes an increased basal expression in different cell types and has a higher enzyme activity in red blood cells.…”

“…A functional SNP in the promoter region of the CAT gene results from C/T substitution at position À262 (C-262T, rs1001179). It has been demonstrated that the T allele has a significantly higher transcriptional activity than the C variant, leading to higher catalase levels in the T/T genotype [Forsberg et al 2001]. Since there is more protection against H 2 O 2 accumulation in cells with high catalase expression, it is possible that the variability associated with this polymorphism plays a role in response to oxidative stress [Chang et al 1999].…”

Re: “Associations Between Breast Cancer Risk and the Catalase Genotype, Fruit and Vegetable Consumption, and Supplement Use”

“…This result is of potential great importance as catalase is a primary defence against oxidative stress, which could play a role in a variety of diseases. They observed that the CC genotype was associated with higher catalase activity in 18 subjects, a result at variance with the lower protein level observed by Forsberg in 29 subjects (2) and concluded that larger genotypephenotype association studies are required. We recently did such a study in a sample of 196 coal miners in France and have confirmed the highest red blood cell catalase activity in coal miners with CAT -262 CC genotype, miners with the TT genotype having a loss of activity of 31 percent (3).…”

Genetic Polymorphism of C-262T Catalase and Susceptibility to Schizophrenia

“…Thus it limits the deleterious effects of ROS. A C/T polymorphism located 262 bp upstream to the CAT transcription site (C-262T, dbSNP rs1001179) has been described [3]. The less common T allele is associated with lower levels of red blood cell CAT activity [3,4] which may increase ROS formation and oxidative stress.…”