Caldarola Giacomo, Sgambato Alessandro, Fanali Caterina, Moretta Gaia, Farina Marisa, Lucchetti Donatella, Peris Ketty, De Simone Clara
Institutes of aDermatology bGeneral Pathology, Catholic University of the Sacred Heart, Rome, Italy.
Pharmacogenet Genomics. 2016 Sep;26(9):423-7. doi: 10.1097/FPC.0000000000000233.
This retrospective study aimed to evaluate the role of NFKB1-94 insertion/deletion ATTG (rs28362491) and NFkBIA 2758 A>G (rs696) polymorphisms and HLA-Cw6 allele in predicting the response to etanercept, a TNF-α blocker, in a population of psoriatic patients naive to biologics.
Genomic DNA was extracted from whole blood in a series of 96 psoriatic patients who received etanercept for at least 3 months. Patients were classified as responders if they achieved a Psoriasis Area and Severity Index improvement of at least 75% after 12 weeks of etanercept treatment and as nonresponders if Psoriasis Area and Severity Index improvement was less than 75%. Genotyping was performed using the PCR-restriction fragment length polymorphism (PCR-RFLP) method.
We did not find any significant role of NFKB1-94 insertion/deletion ATTG (rs28362491) and NFkBIA 2758 A>G (rs696) polymorphisms and the HLA-Cw6 allele in predicting the response to etanercept.
Our findings suggest that NFKB1 and NFkBIA polymorphisms are not related to the response to etanercept. They also indicate that the therapeutic response to etanercept is not influenced by the presence of the HLA-Cw6 allele, in contrast with previous evidence on ustekinumab, suggesting that such an association is related more to drug than to disease characteristics.
本回顾性研究旨在评估NFKB1-94插入/缺失ATTG（rs28362491）和NFkBIA 2758 A>G（rs696）多态性以及HLA-Cw6等位基因在预测生物制剂初治的银屑病患者群体中对肿瘤坏死因子-α阻滞剂依那西普反应方面的作用。
从96例接受依那西普治疗至少3个月的银屑病患者的全血中提取基因组DNA。如果患者在接受依那西普治疗12周后银屑病面积和严重程度指数改善至少75%，则分类为反应者；如果改善小于75%，则分类为无反应者。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行基因分型。
我们未发现NFKB1-94插入/缺失ATTG（rs28362491）和NFkBIA 2758 A>G（rs696）多态性以及HLA-Cw6等位基因在预测依那西普反应方面有任何显著作用。
我们的研究结果表明，NFKB1和NFkBIA多态性与依那西普反应无关。它们还表明，与之前关于乌司奴单抗的证据相反，依那西普的治疗反应不受HLA-Cw6等位基因存在的影响，这表明这种关联更多地与药物而非疾病特征相关。
