CAT
Gene name: catalaseOMIM ID: 115500
Chromosome location: 11p13
Polymorphisms
| Disease/Phenotype | hepatocellular carcinoma, susceptibility to | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_001752.3 | ||||||||||||||||||||
| DNA Change | c.-330C>T | ||||||||||||||||||||
| A.A. Change | |||||||||||||||||||||
| Exon/Intron | 5' of the ATG codon | ||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||
| Reference SNP | rs1001179 | ||||||||||||||||||||
| Cases | 96 HCC patients | ||||||||||||||||||||
| Controls | 222 healthy controls | ||||||||||||||||||||
| Frequency |
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| Comments | Association between hepatocellular carcinoma and the CAT polymorphism was found | ||||||||||||||||||||
| Reference | Ezzikouri S, El Feydi AE, Afifi R, Benazzouz M, Hassar M, Pineau P, Benjelloun S.
Polymorphisms in antioxidant defence genes and susceptibility to hepatocellular carcinoma in a Moroccan population. Free Radic Res. 2010 Feb;44(2):208-16. |