Mougin B, Garnero P, Borel O, Compagnon C, Barbalat V, Marotte H, Miossec P
bioMérieux, Chemin de l'Orme, 69280 Marcy l'Etoile, France.
J Immunol Methods. 2001 Oct 1;256(1-2):47-53. doi: 10.1016/s0022-1759(01)00441-0.
Knowledge of the genetic background of patients with inflammatory arthritis may be useful for disease management. The main markers are the HLA-DR-associated Shared Epitope (SE) for Rheumatoid Arthritis (RA) and HLA-B27 for ankylosing spondylitis. We have developed a simple molecular biology-based test to provide this essential information. HLA targets are amplified by polymerase chain reaction (PCR), then simultaneously analyzed using 16 individual hybridization reactions in two 8-well ELISA strips with colorimetric detection. Concordance was evaluated using a cohort of RA patients with known genotype. Using this new assay, 100% concordance was observed with conventional genotyping in RA patients both for HLA-DR SE and B27 genotypes. Seventy-three percent of the patients with destructive RA had at least one susceptible allele within SE, compared to 38% of those patients with non-destructive disease. This new assay, which requires minute amount of blood, could be used to determine the genetic background of inflammatory arthritis, particularly in non-specialized settings and for large-scale clinical trials.
了解炎性关节炎患者的遗传背景可能有助于疾病管理。主要标志物是类风湿关节炎（RA）的HLA - DR相关共享表位（SE）和强直性脊柱炎的HLA - B27。我们开发了一种基于简单分子生物学的检测方法来提供这一关键信息。通过聚合酶链反应（PCR）扩增HLA靶点，然后在两个8孔ELISA条带中使用16个单独的杂交反应进行同时分析，并采用比色检测。使用一组已知基因型的RA患者对一致性进行评估。使用这种新检测方法，在RA患者中，HLA - DR SE和B27基因型与传统基因分型的一致性均为100%。73%的破坏性RA患者在SE内至少有一个易感等位基因，相比之下，非破坏性疾病患者的这一比例为38%。这种新检测方法只需微量血液，可用于确定炎性关节炎的遗传背景，特别是在非专业环境以及大规模临床试验中。
