Lampe Johannes B, Gossrau Gudrun, Kempe Andrea, Füssel Monika, Schwurack Katja, Schröder Rolf, Krause Sabine, Kohnen Ralf, Walter Maggie C, Reichmann Heinz, Lochmüller Hanns
Klinik für Neurologie, Technische Universität Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.
J Neurol. 2003 Nov;250(11):1313-7. doi: 10.1007/s00415-003-0204-3.
Sporadic inclusion body myositis (s-IBM) is characterised by progressive weakness of proximal and distal limb muscles. Most patients are aged over 50 years at disease onset. Muscle biopsy reveals an inflammatory myopathy and cytoplasmic amyloid deposits. The mononuclear infiltrate is dominated by CD8+ T-cells. Several investigators have described associations between s-IBM and certain HLA antigens and alleles. However, to date neither HLA class I nor II alleles have been analysed in a large series of patients. We typed various HLA class I and II alleles in 47 patients suffering from s-IBM using sequence specific-primer pairs (SSPPCR). The results were compared with published German controls. Additional Bonferroni adjustment was performed over all allele groups corresponding to serologically defined antigens within one HLA class I or II locus. After Bonferroni adjustment, we found a significant increase in frequency of the following HLA alleles for s-IBM patients when compared with normal controls: A03 (p = 0.0002), B08 (p = 0.002), DRB103 (p = 0.0000002), and DQB105 (p = 0.02). HLA typing may be helpful to distinguish between subgroups of s-IBM patients. Moreover, HLA analysis may aid in identifying patients who might profit from future therapeutic strategies.
散发性包涵体肌炎(s-IBM)的特征是近端和远端肢体肌肉进行性无力。大多数患者发病时年龄超过50岁。肌肉活检显示为炎症性肌病和细胞质淀粉样沉积物。单核细胞浸润以CD8 + T细胞为主。几位研究者描述了s-IBM与某些HLA抗原和等位基因之间的关联。然而,迄今为止,尚未在大量患者中分析HLA I类和II类等位基因。我们使用序列特异性引物对(SSP-PCR)对47例s-IBM患者的各种HLA I类和II类等位基因进行了分型。将结果与已发表的德国对照进行比较。对一个HLA I类或II类基因座内与血清学定义抗原相对应的所有等位基因组进行了额外的Bonferroni校正。经过Bonferroni校正后,我们发现与正常对照相比,s-IBM患者的以下HLA等位基因频率显著增加:A03(p = 0.0002)、B08(p = 0.002)、DRB103(p = 0.0000002)和DQB105(p = 0.02)。HLA分型可能有助于区分s-IBM患者的亚组。此外,HLA分析可能有助于识别可能从未来治疗策略中获益的患者。