Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GPX1

Gene name: glutathione peroxidase 1
OMIM ID: 138320
Chromosome location: 3p21.31

Polymorphisms

Disease/Phenotypehepatocellular carcinoma, susceptibility to
Reference transcriptNM_000581.2
DNA Changec.599C>T
A.A. Changep.Pro200Leu
Exon/Intronexon 2
Variation Typesubstitution
Reference SNPrs1050450
Cases96 HCC patients
Controls222 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Pro/Pro50 (52.1%)108 (48.6%)1
Pro/Leu32 (33.3%)88 (39.6%)0.78 (0.46-1.33)0.367
Leu/Leu14 (14.5%) 26 (11.7%)1.16 (0.56-2.42)0.685
CommentsIt appears that GPX1/Pro198Leu variant have an influence on hepatocellular carcinoma risk.
ReferenceEzzikouri 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.