Behcet disease

OMIM:109650
Mode of inheritance:Multifactorial
Disease classification:Diseases of the musculoskeletal system and connective tissue

Polymorphisms

Gene symbol	TNF
Reference transcript	NM_000594.3
DNA Change	c.-1211C>T
A.A. Change
Exon/Intron	5' of the ATG codon
Variation Type	substitution
Reference SNP	rs1799964
Cases	120 BD patients
Controls	112 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value C 31.2% 21.0% 1.68 (1.10-2.56) 0.02 TT 55 (45.8%) 65 (58.0%) TC 56 (46.7%) 47 (42.0%) CC 9 (7.5) 0 (0%)
Comments	An evident association between the c.-1211T>C polymorphism and Behcet disease.
Reference	Radouane 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.

---

Gene symbol	TNF
Reference transcript	NM_000594.3
DNA Change	c.-1043C>A
A.A. Change
Exon/Intron	5' of the ATG codon
Variation Type	substitution
Reference SNP	rs1800630
Cases	120 BD patients
Controls	112 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value A 12.9% 12.0% 1.13 (0.65-1.97) 0.67 CC 89 (74.2%) 85 (75.9%) CA 31 (25.8%) 27 (24.1%) AA 0 (0%) 0 (0%)
Reference	Radouane 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.

---

Gene symbol	TNF
Reference transcript	NM_000594.3
DNA Change	c.-1037C>T
A.A. Change
Exon/Intron	5' of the ATG codon
Variation Type	substitution
Reference SNP	rs1799724
Cases	120 BD patients
Controls	112 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value T 6.25% 8.03% 0.76 (0.37-1.55) 0.47 CC 105 (87.5%) 94 (83.9%) CT 15 (12.5%) 18 (16.1%) TT 0 (0%) 0 (0%)
Reference	Radouane 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.

---

Gene symbol	TNF
Reference transcript	NM_000594.3
DNA Change	c.-556G>A
A.A. Change
Exon/Intron	5' of the ATG codon
Variation Type	substitution
Reference SNP	rs1800750
Cases	120 BD patients
Controls	112 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value A 1.67% 4.02% 0.40 (0.12-1.3) 0.16 GG 116 (96.7%) 103 (92.0%) GA 4 (3.3%) 9 (8.0%) AA 0 (0%) 0 (0%)
Reference	Radouane 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.

---

Gene symbol	TNF
Reference transcript	NM_000594.3
DNA Change	c.-488G>A
A.A. Change
Exon/Intron	5' of the ATG codon
Variation Type	substitution
Reference SNP	rs1800629
Cases	120 BD patients
Controls	112 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value A 15.8% 22.8% 0.64 (0.40-1.02) 0.06 GG 82 (68.3%) 68 (60.7%) GA 38 (31.7%) 37 (33.0%) AA 0 (0%) 7 (6.3%)
Reference	Radouane 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.

---

Gene symbol	TNF
Reference transcript	NM_000594.3
DNA Change	c.-418G>A
A.A. Change
Exon/Intron	5' of the ATG codon
Variation Type	substitution
Reference SNP	rs361525
Cases	120 BD patients
Controls	112 healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value A 10.0% 6.70% 1.55 (0.79-3.03) 0.24 GG 102 (85.0%) 97 (86.6%) GA 12 (10.0%) 15 (13.4%) AA 6 (5.0%) 0 (0%)
Reference	Radouane 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.

---