Rooryck C, Barnetche T, Richez C, Laleye A, Arveiler B, Schaeverbeke T
Laboratoire de Génétique Humaine, Université Victor Segalen Bordeaux, Bordeaux Cedex, France.
Clin Exp Rheumatol. 2008 Mar-Apr;26(2):340-2.
Anti-TNF-alpha therapies are widely used in rheumatoid arthritis (RA) patients. Despite their clearly proven efficacy, some discrepancies were observed in the treatment response with 40% of non-responder patients. The aim of this study is to determine whether two functional single-nucleotide polymorphisms, V212F in the FCGR3A, and M196R in the TNFRSF1B genes correlate with rheumatoid arthritis susceptibility and response to anti-TNF-alpha therapy.
The population study was composed of a French cohort of 78 RA patients and 70 healthy controls. Allele and genotype frequencies were compared between patients and controls, according to their response to infliximab therapy, using the American College of Rheumatology (ACR) response criteria.
No association was found between these two SNPs and RA susceptibility. A significant correlation was found between 196R allele carriers and low response to infliximab therapy.
This is the first report of a statistically significant association between the TNFRSF1B-M196R SNP and response to infliximab in a French cohort. Larger studies are needed to confirm the relevance of this association.
抗TNF-α疗法广泛应用于类风湿关节炎（RA）患者。尽管其疗效已得到明确证实，但仍有40%的无反应患者在治疗反应上存在一些差异。本研究的目的是确定FCGR3A基因中的V212F和TNFRSF1B基因中的M196R这两个功能性单核苷酸多态性是否与类风湿关节炎易感性及对抗TNF-α疗法的反应相关。
人群研究由一个法国队列组成，包括78例RA患者和70例健康对照。根据美国风湿病学会（ACR）反应标准，比较患者和对照之间的等位基因和基因型频率，以及他们对英夫利昔单抗治疗的反应。
未发现这两个单核苷酸多态性与RA易感性之间存在关联。发现196R等位基因携带者与对英夫利昔单抗治疗反应低之间存在显著相关性。
这是法国队列中首次报道TNFRSF1B - M196R单核苷酸多态性与对英夫利昔单抗反应之间存在统计学显著关联。需要更大规模的研究来证实这种关联的相关性。
