KAT2B

Gene name: p300/CBP Associating Factor (PCAF)
OMIM ID: 602303
Chromosome location: 3p24.3

Polymorphisms

Disease/Phenotype	hepatocellular carcinoma, susceptibility to
Reference transcript	NM_003884.4
DNA Change	c.1157A>G
A.A. Change	p.Asn386Ser
Exon/Intron	exon 8
Variation Type	substitution
Reference SNP	rs17006625
Cases	94 cases with HCC
Controls	220 controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value Asn 0.957 0.941 1 Ser 0.043 0.059 0.708 (0.314-1.593)   0.401 Asn/Asn 88 (93.6%) 194 (88.2%) Asn/Ser 4 (4.3%) 26 (11.8%) 0.34 (0.11-1.00) 0.041 Ser/Ser 2 (2.1%) 0 10.99 (0.52-231.28) 0.037
Reference	Akil 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.

---