title: TNFAIP3 gene polymorphisms confer risk for Behcet's disease in a Chinese Han population.
abstract: The tumor necrosis factor alpha-inducible protein 3 (TNFAIP3) gene polymorphisms have recently been reported to be associated with the susceptibility to several immune-related diseases. This study was performed to evaluate the potential association of TNFAIP3 polymorphisms with Behcet's disease (BD) in a Chinese Han population. Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928, and rs9494885 of TNFAIP3 were genotyped in 722 BD patients and 1,415 healthy controls using a PCR-restriction fragment length polymorphism assay. Allele and genotype frequencies were compared between patients and controls using the χ (2) test. The results showed a significantly increased prevalence of the rs9494885 TC genotype and C allele in BD patients compared with controls (Bonferroni corrected p (p (c)) = 1.83 × 10(-10), odds ratio (OR) [95% CI] 2.03 [1.65-2.49]; p (c) = 8.35 × 10(-10), OR [95% CI] 1.81 [1.51-2.18], respectively).The frequency of the TT genotype and T allele of rs9494885 was markedly lower in BD patients than that in controls (p (c) = 1.23 × 10(-10), OR [95% CI] 0.50 [0.40-0.61]; p (c) = 8.35 × 10(-10), OR [95% CI] 0.55 [0.46-0.66], respectively). For rs10499194, a higher frequency of the CC genotype (p (c) = 0.015, OR [95% CI] 1.96 [1.30-2.97]) and C allele (p (c) = 0.005, OR [95% CI] 1.92 [1.28-2.90]), and a lower frequency of the TC genotype (p (c) = 0.015, OR [95% CI] 0.51 [0.34-0.77]) and T allele (p (c) = 0.005, OR [95% CI] 0.52 [0.35-2.97]) were found in BD patients. Concerning rs7753873, a higher frequency of the AC genotype (p (c) = 0.015, OR [95% CI] 1.49 [1.17-1.91]) and C allele (p (c) = 0.025, OR [95% CI] 1.39 [1.11-1.76]), and a lower frequency of the AA genotype (p (c) = 0.03, OR [95% CI] 0.68 [0.53-0.87]) and A allele (p (c) = 0.025, OR [95% CI] 0.72 [0.57-0.91]) were observed in BD patients. This study identified one strong risk SNP rs9494885 and two weak risk SNPs rs10499194 and rs7753873 of TNFAIP3 in Chinese Han BD patients.
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing 400016, People's Republic of China.
authors.forename: Hong
authors.initials: H
authors.lastname: Li
authors.forename: Qing
authors.initials: Q
authors.lastname: Liu
authors.forename: Shengping
authors.initials: S
authors.lastname: Hou
authors.forename: Liping
authors.initials: L
authors.lastname: Du
authors.forename: Qingyun
authors.initials: Q
authors.lastname: Zhou
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Aize
authors.initials: A
authors.lastname: Kijlstra
authors.forename: Zheng
authors.initials: Z
authors.lastname: Li
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D001528:Behcet Syndrome / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D016017:Odds Ratio; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012307:Risk Factors; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3
chemical_list: D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3