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TNFAIP3 gene polymorphisms confer risk for Behcet’s disease in a Chinese Han population

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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.

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Acknowledgments

The authors would like to thank all donors enrolled in the present study. This work was supported by the Natural Science Foundation Major International (RegionaJoint Research Project (30910103912), National Basic Research Program of China (973 Program) (2011CB510200), Key Project of Natural Science Foundation (81130019), National Natural Science Foundation Proj (30973242), Chongqing Key Laboratory of Ophthalmology (CSTC, 2008CA5003), Program for the Training of a Hundred Outstanding S&T Leaders of Chongqing Municipality and Fund for PAR-EU Scholars Program.

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All authors do not have any conflict of interest to disclose.

Ethical standard

This study was conducted with the approval of the Ethical Committee of Chongqing Medical University.

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Authors and Affiliations

  1. The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing, 400016, People’s Republic of China

    Hong Li, Shengping Hou, Liping Du, Qingyun Zhou, Yan Zhou & Peizeng Yang

  2. The First Affiliated Hospital of Chongqing Medical University, The Clinical Research Center, Chongqing, 400016, People’s Republic of China

    Qing Liu

  3. University Eye Clinic Maastricht, Maastricht, The Netherlands

    Aize Kijlstra

  4. Ocular Genomics, Singapore Eye Research Institute, Singapore, Singapore

    Zheng Li

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  1. Hong Li
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Li, H., Liu, Q., Hou, S. et al. TNFAIP3 gene polymorphisms confer risk for Behcet’s disease in a Chinese Han population. Hum Genet 132, 293–300 (2013). https://doi.org/10.1007/s00439-012-1250-7

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