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

TNF

Gene name: tumor necrosis factor
OMIM ID: 191160
Chromosome location: 6p21.33

Polymorphisms

Disease/PhenotypeBehcet disease
Reference transcriptNM_000594.3
DNA Changec.-1211C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1799964
Cases120 BD patients
Controls112 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C31.2%21.0%1.68 (1.10-2.56)0.02
TT55 (45.8%)65 (58.0%)
TC56 (46.7%)47 (42.0%)
CC9 (7.5)0 (0%)
CommentsAn evident association between the c.-1211T>C polymorphism and Behcet disease.
ReferenceRadouane A, Oudghiri M, Chakib A, Bennani S, Touitou I, Barat-Houari M.SNPs in the TNF-α gene promoter associated with Behcet s disease in Moroccan patients.
Rheumatology (Oxford). 2012 Sep;51(9):1595-9.
Disease/PhenotypeBehcet disease
Reference transcriptNM_000594.3
DNA Changec.-1043C>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1800630
Cases120 BD patients
Controls112 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A12.9%12.0%1.13 (0.65-1.97)0.67
CC89 (74.2%)85 (75.9%)
CA31 (25.8%)27 (24.1%)
AA0 (0%)0 (0%)
ReferenceRadouane A, Oudghiri M, Chakib A, Bennani S, Touitou I, Barat-Houari M.SNPs in the TNF-α gene promoter associated with Behcet s disease in Moroccan patients.
Rheumatology (Oxford). 2012 Sep;51(9):1595-9.
Disease/PhenotypeBehcet disease
Reference transcriptNM_000594.3
DNA Changec.-1037C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1799724
Cases120 BD patients
Controls112 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T6.25%8.03%0.76 (0.37-1.55)0.47
CC105 (87.5%)94 (83.9%)
CT15 (12.5%)18 (16.1%)
TT0 (0%)0 (0%)
ReferenceRadouane A, Oudghiri M, Chakib A, Bennani S, Touitou I, Barat-Houari M.SNPs in the TNF-α gene promoter associated with Behcet s disease in Moroccan patients.
Rheumatology (Oxford). 2012 Sep;51(9):1595-9.
Disease/PhenotypeBehcet disease
Reference transcriptNM_000594.3
DNA Changec.-556G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1800750
Cases120 BD patients
Controls112 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A1.67%4.02%0.40 (0.12-1.3)0.16
GG116 (96.7%)103 (92.0%)
GA4 (3.3%)9 (8.0%)
AA0 (0%)0 (0%)
ReferenceRadouane A, Oudghiri M, Chakib A, Bennani S, Touitou I, Barat-Houari M.SNPs in the TNF-α gene promoter associated with Behcet s disease in Moroccan patients.
Rheumatology (Oxford). 2012 Sep;51(9):1595-9.
Disease/PhenotypeBehcet disease
Reference transcriptNM_000594.3
DNA Changec.-488G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1800629
Cases120 BD patients
Controls112 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A15.8%22.8%0.64 (0.40-1.02)0.06
GG82 (68.3%)68 (60.7%)
GA38 (31.7%)37 (33.0%)
AA0 (0%)7 (6.3%)
ReferenceRadouane A, Oudghiri M, Chakib A, Bennani S, Touitou I, Barat-Houari M.SNPs in the TNF-α gene promoter associated with Behcet s disease in Moroccan patients.
Rheumatology (Oxford). 2012 Sep;51(9):1595-9.
Disease/PhenotypeBehcet disease
Reference transcriptNM_000594.3
DNA Changec.-418G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs361525
Cases120 BD patients
Controls112 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A10.0%6.70%1.55 (0.79-3.03)0.24
GG102 (85.0%)97 (86.6%)
GA12 (10.0%)15 (13.4%)
AA6 (5.0%)0 (0%)
ReferenceRadouane A, Oudghiri M, Chakib A, Bennani S, Touitou I, Barat-Houari M.SNPs in the TNF-α gene promoter associated with Behcet s disease in Moroccan patients.
Rheumatology (Oxford). 2012 Sep;51(9):1595-9.
Disease/PhenotypeDiabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcriptNM_000594.3
DNA Changec.-488G>A (-308G>A)
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1800629
Cases307
Controls244
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G37.46%51.84%1
A62.54%48.16%1.79 (1.41-2.28)<0.0001
GG12.38%24.59%1
GA50.16%54.51%1.78 (1.11-2.86)0.016
AA37.56%20.90%3.69 (2.16-6.28)<0.0001
GA+AA87.62%75.41%2.30 (1.47-3.62)<0.0001
ReferenceSefri H, Benrahma H, Charoute H, Lakbakbi el Yaagoubi F, Rouba H, Lyoussi B, Nourlil J, Abidi O, Barakat A.TNF A -308G>A polymorphism in Moroccan patients with type 2 diabetes mellitus: a case-control study and meta-analysis.
Mol Biol Rep. 2014 Sep;41(9):5805-11.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_000594.3
DNA Changec.-488G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1800629
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A81103
G3175131.27 (0.92-1.76)0.14
AA15 (7.54%)6 (1.95%)
AG51 (25.63%)91 (29.55%)1.07 (0.73-1.57) (Dominant)0.69
GG133 (66.83%)211 (68.51%)4.10 (1.56-10.76) (Recessive)0.004
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.