在澳大利亚包涵体型肌炎（s-IBM）队列中进行高分辨率 HLA-DRB1 基因分型：疾病相关等位基因和单体型分析。
High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: an analysis of disease-associated alleles and diplotypes.
机构信息
Australian Neuro-muscular Research Institute and Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Queen Elizabeth II Medical Centre, Perth, Western Australia, Australia.
出版信息
J Neuroimmunol. 2012 Sep 15;250(1-2):77-82. doi: 10.1016/j.jneuroim.2012.05.003. Epub 2012 May 26.
We performed high-resolution (4-digit) HLA-DRB1 genotyping in an Australian cohort of 105s-IBM patients and 189 controls. Our findings showed that whilst the strongest association was with the HLA-DRB103:01 allele and the HLA-DRB103:01/01:01 diplotype, HLA-DRB101:01 and HLA-DRB113:01 are also risk alleles. A number of other alleles, HLA-DRB104:01, *04:04, *07:01, *09:01, 11:01 and 15:01, as well as the HLA-DRB103:01/04:01 and HLA-DRB103:01/07:01 diplotypes were reduced in s-IBM cases and may be protective. The HLA-DRB103:01 and HLA-DRB113:01 alleles also appear to have an influence on the age at onset of the disease and severity of muscle weakness. Our findings indicate that the influence of HLA-DRB1 in s-IBM is complex and that epistatic interactions at the HLA-DRB1 locus contribute both to disease susceptibility and to the clinical phenotype.
我们对 105 例 s-IBM 患者和 189 名对照者进行了高分辨率（4 位数字）HLA-DRB1 基因分型。研究结果表明，虽然与 HLA-DRB103:01 等位基因和 HLA-DRB103:01/01:01 双等位基因的相关性最强，但 HLA-DRB101:01 和 HLA-DRB113:01 也是风险等位基因。其他一些等位基因，如 HLA-DRB104:01、*04:04、*07:01、*09:01、11:01 和 15:01，以及 HLA-DRB103:01/04:01 和 HLA-DRB103:01/07:01 双等位基因在 s-IBM 病例中减少，可能具有保护作用。HLA-DRB103:01 和 HLA-DRB113:01 等位基因似乎也会影响疾病的发病年龄和肌肉无力的严重程度。研究结果表明，HLA-DRB1 在 s-IBM 中的影响是复杂的，HLA-DRB1 基因座上的上位性相互作用既与疾病易感性有关，也与临床表型有关。
Zotero 插件