Genetic variations of IL-12B, IL-12Rβ1, IL-12Rβ2 in Behcet's disease and VKH syndrome.
Genetic variations of IL-12B, IL-12Rβ1, IL-12Rβ2 in Behcet's disease and VKH syndrome.
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Behcet病和VKH综合征中IL-12b，IL-12Rβ1，IL-12Rβ2的遗传变异。
DOI：
10.1371/journal.pone.0098373
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Yang P
中科院分区：
文献类型：
--
作者：
Li X;Bai L;Fang J;Hou S;Zhou Q;Yu H;Kijlstra A;Yang P
探讨中国汉族人群白塞病（BD）和Vogt-Koyanagi-Harada （VKH）综合征中3个基因（IL-12B、IL-12Rβ1和IL-12Rβ2）单核苷酸多态性（snp）的相关性。本研究共纳入806例BD患者、820例VKH患者和1600例健康对照。第一次调查包括400例BD患者、400例VKH患者和600例健康人。第二项验证性研究包括406名BD患者、420名VKH患者和另外1000名正常对照。采用聚合酶链反应-限制性片段长度多态性法进行基因分型，并采用直接测序法对结果进行验证。采用χ2检验比较病例与健康对照的等位基因和基因型频率。本研究分为两个阶段。在一期研究中，与对照组相比，发现BD患者中rs3212227/IL-12B基因型CC和C等位基因的频率显著增加(Bonferroni校正p值(pc) = 0.009, OR 1.8；pc = 0.024， OR分别为1.3)。此外，rs3212227/IL-12B C等位基因的频率在VKH患者中也显著增加（pc = 0.012, OR 1.3, 95% CI 1.1 ~ 1.6）。其他7种snp在BD或VKH疾病中均未发现关联。第二项研究及联合数据证实rs3212227/IL-12B与BD有显著相关性（CC基因型：联合pc = 6.3×10−7,OR = 1.8； C等位基因：联合pc = 2.0×10−5,OR = 1.3），且rs3212227/IL-12B的C等位基因频率是VKH患者的危险因素（联合pc = 2.5×10−5,OR = 1.3, 95% CI 1.2 ~ 1.5）。我们的研究表明IL-12B基因参与了BD和VKH综合征的易感性。
To investigate the associations of single nucleotide polymorphisms (SNPs) of three genes (IL-12B, IL-12Rβ1 and IL-12Rβ2) in Behcet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Chinese Han population. A total of 806 BD cases, 820 VKH patients, and 1600 healthy controls were involved in this study. The first investigation included 400 BD patients, 400 VKH cases, and 600 healthy individuals. A second confirmatory study included a separate set of 406 BD patients, 420 VKH cases and another 1000 normal controls. Genotyping was carried out by PCR-restriction fragment length polymorphism assay and results were validated by using direct sequencing. The χ2 test was performed to compare the allele and genotype frequencies between cases and healthy controls. This study comprised two phases. In the first phase study, a significantly increased frequency of the rs3212227/IL-12B genotype CC and C allele was found in BD patients as compared to controls (Bonferroni corrected p value (pc) = 0.009, OR 1.8; pc = 0.024, OR 1.3, respectively). Moreover, the frequency of the C allele of rs3212227/IL-12B was also significantly increased in VKH patients (pc = 0.012, OR 1.3, 95% CI 1.1 to 1.6). No associations were found for the other seven tested SNPs either in BD or VKH disease. The second study as well as the combined data confirmed the significant association of rs3212227/IL-12B with BD (CC genotype: combined pc = 6.3×10−7, OR = 1.8; C allele: combined pc = 2.0×10−5, OR = 1.3, respectively) and the C allele frequency of rs3212227/IL-12B as the risk factor to VKH patients (combined pc = 2.5×10−5, OR 1.3, 95% CI 1.2 to 1.5). Our study revealed that the IL-12B gene is involved both in the susceptibility to BD as well as VKH syndrome.
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