Medical School of Nanjing University, Nanjing 210093, China; Department of Internal Medicine, the First Affiliated Hospital, Xinxiang Medical University, Weihui 453100, China.
Department of Internal Medicine, the First Affiliated Hospital, Xinxiang Medical University, Weihui 453100, China.
Med Clin (Barc). 2017 Dec 20;149(12):517-522. doi: 10.1016/j.medcli.2017.04.023. Epub 2017 Jun 11.
There is ongoing debate as to whether tumor necrosis factor alpha (TNF-α)-308 is associated with ankylosing spondylitis (AS). The aim of the present study was to determine whether TNF-α-308 is involved into genetic susceptibility, clinical features and therapeutic response of AS in Han Chinese.
Two hundred and sixty AS patients with 260 ethnically matched healthy blood donors were enrolled into the present study. TNF-α-308 promoter polymorphism was identified using polymerase chain reaction amplification with restriction fragment length polymorphism assay.
Population genetic analysis showed that the prevalence of allele A and G/A genotype was equally infrequent in both AS patients (3.85% and 7.69%) and healthy subjects (4.23% and 8.46%). Compared with the carriers of G/G genotype, remarkably elevated erythrocyte sedimentation rate and serum C-reactive protein were observed in AS patients with G/A variant (87.06±49.40 vs. 55.53±42.99mm/h, P=.0126; 54.95±27.77 vs. 34.36±36.13mg/dl, P=.0116, respectively), and they always presented with inflammatory spinal pain (70.00% vs. 43.33%, P=0.0214) and suffered relatively mild sacroiliitis (65.00% vs. 41.67%, P=0.0431). The allele G and G/G genotype were more frequent in good responders to anti-TNF-α treatment (96.55% vs. 73.53%, P=.0032; 93.10% vs. 47.06%, P=.0015), whereas there was no obvious superiority of them in predicting therapeutic response of conventional medications for AS.
Our data suggest that TNF-α-308 polymorphism may influence the clinical features rather than susceptibility to AS in our Han Chinese.
肿瘤坏死因子-α（TNF-α）-308 与强直性脊柱炎（AS）之间是否存在关联仍存在争议。本研究旨在确定 TNF-α-308 是否参与汉族人群 AS 的遗传易感性、临床特征和治疗反应。
本研究纳入了 260 名 AS 患者和 260 名匹配的健康献血者。采用聚合酶链反应扩增限制性片段长度多态性检测法确定 TNF-α-308 启动子多态性。
群体遗传学分析显示，等位基因 A 和 G/A 基因型在 AS 患者（3.85%和 7.69%）和健康对照者（4.23%和 8.46%）中的发生率相同。与 G/G 基因型携带者相比，AS 患者 G/A 变异型的红细胞沉降率和血清 C 反应蛋白显著升高（87.06±49.40 vs. 55.53±42.99mm/h，P=.0126；54.95±27.77 vs. 34.36±36.13mg/dl，P=.0116），且他们总是表现出炎症性脊柱疼痛（70.00% vs. 43.33%，P=0.0214）和相对较轻的骶髂关节炎（65.00% vs. 41.67%，P=0.0431）。抗 TNF-α 治疗的良好反应者中，等位基因 G 和 G/G 基因型更为常见（96.55% vs. 73.53%，P=.0032；93.10% vs. 47.06%，P=.0015），而它们在预测 AS 常规药物治疗反应方面没有明显优势。
本研究数据表明，TNF-α-308 多态性可能影响汉族人群 AS 的临床特征，而不是其易感性。
