Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic Moyamoya angiopathy

作者：Kraemer Markus^*; Horn Peter A; Roder Constantin; Khan Nadia; Diehl Rolf R; Berlit Peter; Heinemann Falko M

来源：Acta Neurochirurgica, 2012, 154(3): 445-454.

DOI：10.1007/s00701-011-1261-5

• Human leucocyte antigen genes
• Caucasian patients
• Moyamoya angiopathy
• Moyamoya disease
• Genetic background
• Genetics

Background The etiology and genetic susceptibility of Moyamoya angiopathy (MMA) (Moyamoya disease, Moyamoya syndrome and unilateral type of MMA) still remain unclear. In Asian patient cohorts several HLA markers were described to be associated with MMA, but in Caucasians very little is known about genetic susceptibility of this angiopathy. %26lt;br%26gt;Method We analysed DNA of 33 Caucasian patients with MMA for HLA-A, HLA-B, HLA-DRB1, and HLA-DQB1 markers, respectively. HLA frequencies of all 33 patients with MMA were compared with HLA-frequencies of Caucasian controls. Additionally, subgroup analysis of 22 patients with Moyamoya disease (MMD) and 11 patients with unilateral type of MMA was performed. %26lt;br%26gt;Findings Significant association was observed for HLA-DRB1*03 and HLA-DRB1*13 in all 33 patients (P-c%26lt;0.001 and P-c%26lt;0.001, respectively). Moreover, HLA-A*02 (P-c=0.009); HLA-B*08 (P-c=0.009), and HLA-DQB1*03 (P-c=0.003) frequencies were higher in all patients with MMA when compared with the controls. In addition, in 22 patients with MMD a higher frequency of HLA-DRB1*03 (P-c%26lt;0.001) was observed when compared with controls. %26lt;br%26gt;Conclusions The results of this study indicate a putative association of HLA markers with MMA in Caucasian patients. Further studies are needed to elucidate the role of human MHC in the pathogenesis of this angiopathy.

• 出版日期2012-3