Salvarani C, Boiardi L, Mantovani V, Olivieri I, Ciancio G, Cantini F, Salvi F, Malatesta R, Molinotti C, Govoni M, Trotta F, Filippini D, Paolazzi G, Viggiani M
Unità di Reumatologia, Ospedale di Reggio Emilia, Italy.
J Rheumatol. 2001 Aug;28(8):1867-70.
To evaluate the distribution of the MHC class I chain related gene A transmembrane (MICA-TM) alleles in Italian patients with Behçet's disease (BD), and to investigate the relative contribution of MICA alleles and HLA-B51 in the susceptibility and specific clinical features of BD.
A total of 69 consecutive Italian patients who satisfied the International Study Group criteria for BD were followed at rheumatology, ophthalmology, and neurology units during a 3 year period (1997-99). We selected 130 healthy subjects from the same geographic areas as controls. All patients and controls were examined for MICA microsatellite polymorphisms using polymerase chain reaction. Serological HLA class B51 typing was performed by a standard microlymphocytotoxicity technique.
A strong association with HLA-B51 was observed in patients with BD (OR 5.7, 95% CI 2.8-11.3). The MICA-TM allele A6, in linkage disequilibrium with HLA-B51, was only slightly increased in patients compared to controls (60.9% vs 50.8%; p = NS). No significant associations between HLA-B51 or MICA-TM alleles and clinical subgroups, particularly central nervous system or eye involvement, were found.
HLA-B51 is the most important susceptibility gene in BD. Association with MICA-A6, when it exists, is secondary to the strong linkage disequilibrium with HLA-B51.
评估MHC I类链相关基因A跨膜（MICA-TM）等位基因在意大利白塞病（BD）患者中的分布，并研究MICA等位基因和HLA-B51在BD易感性及特定临床特征中的相对作用。
在3年期间（1997 - 1999年），对69例符合国际研究组BD标准的连续意大利患者在风湿病科、眼科和神经科进行随访。我们从相同地理区域选取130名健康受试者作为对照。所有患者和对照均采用聚合酶链反应检测MICA微卫星多态性。血清学HLA B51分型采用标准微量淋巴细胞毒性技术进行。
在BD患者中观察到与HLA-B51有强关联（比值比5.7，95%可信区间2.8 - 11.3）。与HLA-B51处于连锁不平衡状态的MICA-TM等位基因A6在患者中的比例仅比对照略有增加（60.9%对50.8%；p = 无显著性差异）。未发现HLA-B51或MICA-TM等位基因与临床亚组，特别是中枢神经系统或眼部受累之间有显著关联。
HLA-B51是BD中最重要的易感基因。与MICA-A6的关联（若存在）是由于与HLA-B51的强连锁不平衡所致。
