Mendelian Diseases
Multifactorial Diseases
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

hepatocellular carcinoma, susceptibility to

OMIM:114550
Mode of inheritance:Multifactorial
Disease classification:Neoplasms


Polymorphisms

Gene symbolGPX1
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.
Gene symbolCAT
Reference transcriptNM_001752.3
DNA Changec.-330C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1001179
Cases96 HCC patients
Controls222 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC76 (79.2%)173 (77.9%)1
CT14 (14.6%)45 (20.3%)0.71 (0.37-1.37)0.302
TT6 (6.2%)4 (1.8%)3.41 (0.94-12.45)0.072
CommentsAssociation between hepatocellular carcinoma and the CAT polymorphism was found
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.
Gene symbolSOD2
DNA Change
A.A. ChangeAla-9Val
Variation Typesubstitution
Cases96 HCC patients
Controls222 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Val/Val81 (36.5%)21 (21.8%)
Val/Ala101 (45.5%)45 (46.8%)1.72 (0.95-3.11)0.073
Ala/Ala40 (18%)30 (31.2%)2.89 (1.47-5.68)0.001
CommentsIt appears that NOD2/Ala-9Val polymorphism 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.
Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.47C>T
A.A. Changep.Ala16Val
Exon/Intronexon1
Variation Typesubstitution
Cases96 HCC patients
Controls222 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Val0.4530.592
Ala0.5470.408
Val/Val21(21.8%)81 (36.5%)1
Val/Ala45 (46.8%)101 (45.5%)1.72 (0.95-3.11)
Ala/Ala30 (31.2%)40 (18%)2.89 (1.47-5.68)
CommentsThe genotype Ala/Ala (SOD2- Ala16Val) was significantly higher in HCC patients compared with controls,
ReferenceEzzikouri S, El Feydi AE, Chafik A, Afifi R, El Kihal L, Benazzouz M, Hassar M, Pineau P, Benjelloun S. Genetic polymorphism in the manganese superoxide dismutase gene is associated with an increased risk for hepatocellular carcinoma in HCV-infected Moroccan patients.
Mutat Res. 2008 Jan 8;649(1-2):1-6.
Gene symbolTP53
Reference transcriptNM_000546.5
DNA Changec.215C>G
A.A. Changep.Pro72Arg
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1042522
Cases96 HCC patients
Controls222 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Arg0.7030.759
Pro0.2970.2410.317
Arg/Arg52 (54.2%)129 (58.1%)
Arg/Pro31 (32.3%)79 (35.6%)0.088
Pro/Pro13 (13.5%)14 (6.3%)0.019
CommentsThe Pro/Pro genotype of the p53-Arg72Pro polymorphism was associated with hepatocellular carcinoma, the frequencies of Pro/Pro was significantly more prevalent in patients with HCC than controls (13.5% vs. 6.3%, P < 0.02) than controls.
ReferenceEzzikouri S, El Feydi AE, Chafik A, Benazzouz M, El Kihal L, Afifi R, Hassar M, Pineau P, Benjelloun S. The Pro variant of the p53 codon 72 polymorphism is associated with hepatocellular carcinoma in Moroccan population.
Hepatol Res. 2007 Sep;37(9):748-54.
Gene symbolHFE
Reference transcriptNM_000410.3
DNA Changec.187C>G
A.A. Changep.His63Asp
Exon/Intronexon 2
Variation Typesubstitution
Reference SNPrs1799945
Cases53 HBV-advanced liver disease
Controls70 Asymptomatic HBV carriers
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
H0.7830.9071
D0.2170.0932.70 (1.30-5.64)0.006
H/H34571
H/D15131.93 (0.82-4.55)0.127
D/D4015 (0.78-287.18)0.012
H/D + D/D19132.45 (1.07-5.58)0.030
CommentsCarriers of the HFE-H63D polymorphism infected with HBV are significantly at higher risk to progress towards an advanced liver disease compared with patients infected with HBV with wild-type (H/H) ,
ReferenceEzzikouri S, Rebbani K, Mostafa A, El Feydi AE, Afifi R, Brahim I, Kitab B, Benazzouz M, Kandil M, Nadifi S, Pineau P, Benjelloun S. Influence of mutation of the HFE gene on the progression of chronic viral hepatitis B and C in Moroccan patients.
J Med Virol. 2011 Dec;83(12):2096-102.
Gene symbolHFE
Reference transcriptNM_000410.3
DNA Changec.845G>A
A.A. Changep.Cys282Tyr
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1800562
Cases53 HBV-advanced liver disease
Controls70 Asymptomatic HBV carriers
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.9910.9861
Y0.0090.0140.66 (0.06-7.34)1
C/C52681
C/Y120.65 (0.06-7.41)0.730
Y/Y001.30 (0.02-66.85)1
CommentsThe frequency of HFE-C282Y polymorphism was higher in patients with advanced liver disease compared with asymptomatic HBV carriers. However, this difference was not statistically significant.
ReferenceEzzikouri S, Rebbani K, Mostafa A, El Feydi AE, Afifi R, Brahim I, Kitab B, Benazzouz M, Kandil M, Nadifi S, Pineau P, Benjelloun S. Influence of mutation of the HFE gene on the progression of chronic viral hepatitis B and C in Moroccan patients.
J Med Virol. 2011 Dec;83(12):2096-102.
Gene symbolEP300
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.
Gene symbolKAT2B
Reference transcriptNM_003884.4
DNA Changec.1157A>G
A.A. Changep.Asn386Ser
Exon/Intronexon 8
Variation Typesubstitution
Reference SNPrs17006625
Cases94 cases with HCC
Controls220 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Asn0.9570.9411
Ser0.0430.0590.708 (0.314-1.593)  0.401
Asn/Asn88 (93.6%)194 (88.2%)
Asn/Ser4 (4.3%) 26 (11.8%) 0.34 (0.11-1.00)0.041
Ser/Ser2 (2.1%)010.99 (0.52-231.28)0.037
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.
Gene symbolMDM2
Reference transcriptNM_002392.4
DNA Changec.14+309T>G
A.A. Change
Exon/IntronIntron1
Variation Typesubstitution
Reference SNPrs2279744
Cases96 cases with HCC
Controls222 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T0.650.741
G0.350.261.56 (1.09-2.26)0.014
TT39 (40.62%)120 (54.04%)1
TG46 (47.92%)89 (40.09%)1.59 (0.96-2.64)0.071
GG11 (11.46%)13 (5.85%)2.60 (1.08-6.28)  0.029
TG+GG57 (59.37%)102 (45.94%)1.72 (1.06-2.79)0.027
ReferenceEzzikouri S, El Feydi AE, Afifi R, El Kihal L, Benazzouz M, Hassar M, Marchio A, Pineau P, Benjelloun S.MDM2 SNP309T>G polymorphism and risk of hepatocellular carcinoma: a case-control analysis in a Moroccan population.
Cancer Detect Prev. 2009;32(5-6):380-5.
Gene symbolDNMT3B
Reference transcriptNM_006892.3
DNA Changec.307-49C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs2424913
Cases96 cases with HCC
Controls220 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.5940.5831
T0.4060.4170.96 (0.68-1.35)0.806
CC32 (33.3%)75 (33.8%)1
TT50 (52.1%)109 (49.1%) 1.07 (0.63-1.83)0.789
CT14 (14.6%)38 (17.1%)0.86 (0.41?1.80)0.697
ReferenceEzzikouri S, El Feydi AE, Benazzouz M, Afifi R, El Kihal L, Hassar M, Akil A, Pineau P, Benjelloun S.Single nucleotide polymorphism in DNMT3B promoter and its association with hepatocellular carcinoma in a Moroccan population.
Infect Genet Evol. 2009 Sep;9(5):877-81.
Gene symbolPNPLA3
Reference transcriptNM_025225.2
DNA Changec.444C>G
A.A. Changep.Ile148Met
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs738409
Cases101 HCC patients
Controls132 Healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
I59.9%70.5%1
M40.1%29.5%1.60 (1.08-2.35)0.017
I/I42.6%50%1
I/M34.6%40.9%0.99 (0.56-1.76)0.986
M/M22.8%9.1%2.95 (1.31-6.71)0.005
ReferenceEzzikouri S, Alaoui R, Tazi S, Nadir S, Elmdaghri N, Pineau P, Benjelloun S.The adiponutrin I148M variant is a risk factor for HCV-associated liver cancer in North-African patients.
Infect Genet Evol. 2013 Nov 20;21C:179-183.

Variant not named according to HGVS recommendations