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

EP300

Gene name: E1A binding protein p300
OMIM ID: 602700
Chromosome location: 22q13.2

Polymorphisms

Disease/Phenotypehepatocellular carcinoma, susceptibility to
Reference transcriptNM_001429.3
DNA Changec.2989A>G
A.A. Changep.Ile997Val
Exon/Intronexon 15
Variation Typesubstitution
Reference SNPrs20551
Cases94 cases with HCC
Controls220 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Ile0.7980.8321
Val0.2020.168 1.25 (0.81-1.94)0.309
Ile/Ile65 (69.1%)153 (69.5%)1
Ile/Val20 (21.3%) 60 (27.3%)0.78 (0.44-1.41)0.414
Val/Val9 (9.6%)7 (3.2%)3.03 (1.08-8.47)0.028
ReferenceAkil A, Ezzikouri S, El Feydi AE, Benazzouz M, Afifi R, Diagne AG, Benjouad A, Dejean A, Pineau P, Benjelloun S.Associations of genetic variants in the transcriptional coactivators EP300 and PCAF with hepatocellular carcinoma.
Cancer Epidemiol. 2012 Jun 16.