rs769217
This is a synonymous variant in the CAT gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶No evidence for a major effect of two common polymorphisms of the catalase gene in type 1 diabetes susceptibilityAssociationN=7,500Rebecca Pask et al.(2006)· Diabetes/Metabolism Research and Reviews
A large replication study of two catalase gene polymorphisms (rs769217 and rs1001179) in type 1 diabetes found no evidence for a major effect in 1642 families and 3530 case-control samples across multiple populations. Although limited statistical evidence was found for association at rs769217 in USA families (P=0.033, RR=1.23) and rs1001179 in UK families (P=0.046, RR=0.86), the authors conclude these are likely false positives.
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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