De Benedittis Giada, Latini Andrea, Ciccacci Cinzia, Conigliaro Paola, Triggianese Paola, Fatica Mauro, Novelli Lucia, Chimenti Maria Sole, Borgiani Paola
Department of Biomedicine and Prevention, Section of Genetics, University of Rome "Tor Vergata", 00133 Rome, Italy.
UniCamillus-Saint Camillus International University of Health Sciences, 00131 Rome, Italy.
J Pers Med. 2022 Jun 30;12(7):1094. doi: 10.3390/jpm12071094.
Psoriatic arthritis (PsA) is a chronic inflammatory rheumatic disease. The introduction of therapy with biological drugs is promising, even if the efficacy is very variable. Since the response to drugs is a complex trait, identifying genetic factors associated to treatment response could help define new biomarkers for a more effective and personalized therapy. This study aimed to evaluate the potential role of polymorphisms in genes involved in PsA susceptibility as predictors of therapy efficacy. Nine polymorphisms were analyzed in a cohort of 163 PsA patients treated with TNF-i. To evaluate the treatment response, the DAPsA score was estimated for each patient. The possible association between the selected SNPs and mean values of DAPsA differences, at 22 and 54 weeks from the beginning of the treatment, were evaluated by -test. Patients carrying the variant allele of seemed to respond better to treatment, both at 22 and 54 weeks. This variant allele was also associated with an improvement in joint involvement. In contrast, patients carrying the variant allele showed an improvement lower than patients with the wild-type genotype at 54 weeks. Our results suggest that polymorphisms in genes associated with PsA susceptibility could also play a role in TNF-i treatment response.
银屑病关节炎（PsA）是一种慢性炎症性风湿性疾病。生物药物疗法的引入前景广阔，即便其疗效差异很大。由于对药物的反应是一个复杂的性状，确定与治疗反应相关的遗传因素有助于定义新的生物标志物，以实现更有效和个性化的治疗。本研究旨在评估银屑病关节炎易感性相关基因中的多态性作为治疗疗效预测指标的潜在作用。在一组接受肿瘤坏死因子抑制剂（TNF-i）治疗的163例银屑病关节炎患者中分析了9种多态性。为评估治疗反应，为每位患者估算疾病活动度与结构损伤（DAPsA）评分。通过t检验评估所选单核苷酸多态性（SNP）与治疗开始后22周和54周时DAPsA差异均值之间的可能关联。携带[具体基因1]变异等位基因的患者在22周和54周时似乎对治疗反应更好。该变异等位基因还与关节受累情况的改善有关。相比之下，携带[具体基因2]变异等位基因的患者在54周时的改善程度低于野生型基因型患者。我们的结果表明，银屑病关节炎易感性相关基因中的多态性也可能在肿瘤坏死因子抑制剂治疗反应中发挥作用。
