rs769214
This is a upstream gene variant variant in the CAT gene.
▶Research that mentions this SNP (2)
▶Variants in ABCB1 , TGFB1 , and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican AmericansAssociationN=6,779Lyna Zhang et al.(2012)· Hepatology
Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.
▶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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