van de Geijn F E, Hazes J M W, Geleijns K, Emonts M, Jacobs B C, Dufour-van den Goorbergh B C M, Dolhain R J E M
Department of Rheumatology, Erasmus MC University Medical Center Rotterdam, The Netherlands.
Rheumatology (Oxford). 2008 Aug;47(8):1168-71. doi: 10.1093/rheumatology/ken226. Epub 2008 Jun 18.
In RA, conflicting results have been described on the association between genotypes of the complement factor mannose-binding lectin (MBL) and disease susceptibility and severity. This might be due to underpowerment of previous research work and the fact that no confirmation cohorts were used. Therefore a different approach is warranted.
MBL2 gene polymorphisms were determined in two RA cohorts (378 and 261 cases) and 648 controls. Considering MBL polymorphisms, cases and controls were categorized in groups of high, intermediate and low MBL production. The total sample size allows detection of a potential association between RA susceptibility and MBL groups with an odds ratio of 1.37 (alpha < 0.05; 1-beta > 0.8). Disease severity as defined by the need for anti-TNF therapy was also analysed for possible associations with MBL groups.
There was no difference in the frequencies between MBL genotypes of RA cases and controls that are associated with high (cases 54.4%, controls 57.0%), intermediate (cases 28.9%, controls 27.5%) or low (cases 16.7%, controls 15.5%) MBL production. Furthermore, there was no association between MBL groups and disease severity.
MBL genotype groups are not associated with RA disease susceptibility or severity in this large study including a confirmation cohort. Compared with previous smaller studies these results add to more definite conclusions.
在类风湿关节炎(RA)中,关于补体因子甘露糖结合凝集素(MBL)的基因型与疾病易感性及严重程度之间的关联,已有相互矛盾的研究结果报道。这可能是由于既往研究样本量不足且未使用验证队列所致。因此,需要采用不同的研究方法。
在两个RA队列(分别为378例和261例)及648例对照中检测MBL2基因多态性。根据MBL多态性,将病例和对照分为高、中、低MBL产生组。总样本量能够检测出RA易感性与MBL组之间的潜在关联,比值比为1.37(α<0.05;1-β>0.8)。还分析了根据是否需要抗TNF治疗定义的疾病严重程度与MBL组之间的可能关联。
与高(病例54.4%,对照57.0%)、中(病例28.9%,对照27.5%)或低(病例16.7%,对照15.5%)MBL产生相关的RA病例和对照的MBL基因型频率无差异。此外,MBL组与疾病严重程度之间无关联。
在这项纳入了验证队列的大型研究中,MBL基因型组与RA疾病易感性或严重程度无关。与既往较小规模的研究相比,这些结果有助于得出更明确的结论。