rs1049982
This is a regulatory region variant variant in the CAT gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Polymorphisms in oxidative stress‐related genes and postmenopausal breast cancer riskAssociationN=2,409Petra Seibold et al.(2011)· International Journal of Cancer
Two-stage case-control study in Spanish population examining 76 polymorphisms in 27 oxidative stress-related genes for breast cancer susceptibility. Six SNPs (rs1052133 in OGG1, rs406113 and rs974334 in GPX6, rs2284659 in SOD3, rs4135225 in TXN, rs207454 in XDH) were significantly associated with breast cancer risk. A four-variant interaction (rs406113, rs974334, rs1052133, rs2284659) showed increased risk with OR = 1.75 [95% CI: 1.26-2.44], p-value = 0.0008.
About CAT
This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
View all CAT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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