To investigate the association between a functional drug-response tumor necrosis factor (TNF)α gene polymorphism (at the positions of −308; rs1800629; NG_007462.1:g.4682G>A) and both disease susceptibility and clinical manifestations in a cohort of 130 Italian patients with Behçet syndrome (BS). A group of 100 ethnically, age, and gender matched healthy controls (HC) was also recruited. Genotyping was performed using molecular (amplification and direct sequencing) and in silico methods. The genotype distribution of BS patients and HC underlined a lower percentage of wild-type GG genotype in BS patients versus HC (106/130 patients, 81.5% vs. 91/100 HC, 91%; p < 0.05), while the heterozygous genotype (GA) was identified in 24/130 patients (18.5%) versus 9/100 HC (9%) (p < 0.05). GA genotype was significantly associated with the disease (odds ratio = 2.29, 95% confidence interval 1.01–5.18). No significant association was recognized between the single nucleotide polymorphism (SNP) and the BS clinical manifestations, as well as with disease severity (Krause's index). We found statistically significant higher frequency of TNFα rs1800629 GA genotype in patients than in controls. No significant association was recognized between the polymorphism and the clinical parameters, as well as between the SNP and the disease severity. Our data need to be confirmed in larger cohort of patients and matched controls.

中文翻译：

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Behçet综合征的肿瘤坏死因子-α-308G> A多态性与易感性，临床表现和严重程度的相关性：来自意大利遗传病例对照研究的证据。

研究功能性药物反应性肿瘤坏死因子（TNF）α基因多态性（在-308; rs1800629; NG_007462.1：g.4682G> A的位置）与疾病易感性和临床表现之间的关联130名意大利Behçet综合征（BS）患者。还招募了100个种族，年龄和性别匹配的健康对照组（HC）。使用分子（扩增和直接测序）和计算机方法进行基因分型。BS患者和HC的基因型分布表明，与HC相比，BS患者中野生型GG基因型的百分比更低（106/130患者，81.5％，91/100 HC，91％；p  <0.05），而杂合基因型（GA）在24/130位患者（18.5％）与9/100 HC（9％）（p <0.05）。GA基因型与疾病显着相关（比值比= 2.29，95％置信区间1.01-5.18）。在单核苷酸多态性（SNP）和BS临床表现之间以及与疾病严重程度（Krause指数）之间没有发现明显的关联。我们发现的统计显著更高频率TNFα患者rs1800629 GA基因型比对照。多态性和临床参数之间，以及SNP和疾病严重程度之间没有明显的关联。我们的数据需要在更多的患者和匹配的对照人群中得到证实。