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01.03.2012 | Experimental research | Ausgabe 3/2012

Acta Neurochirurgica 3/2012

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

Zeitschrift:
Acta Neurochirurgica > Ausgabe 3/2012
Autoren:
Markus Kraemer, Peter A. Horn, Constantin Roder, Nadia Khan, Rolf R. Diehl, Peter Berlit, Falko M. Heinemann
Wichtige Hinweise

Comment

Kraemer et al. analysed the DNA of 33 Caucasian patients with Moyamoya angiopathy for HLA markers. Significant association was observed for HLA-DRB1*03 and HLADRB1*13 in all 33 patients with Moyamoya angiopathy. Moreover, HLA-A*02; HLA-B*08, and HLADQB1*03 frequencies were higher in all patients with Moyamoya angiopathy when compared with the controls. The results of this study indicate a putative association of HLA markers with Moyamoya angiopathy in Caucasian patients. As discussed in this manuscript, in Asian patient cohorts several HLA markers were already reported to be associated with moyamoya disease (MMD), but in Caucasians very little is known about genetic susceptibility of MMD. This study shows several HLA markers which are associated with MMD. Frequency of MMD in Asian and Caucasians are different. This study has an important role in qualifying the genetic mechanism of MMD in Caucasian patients.
Yasushi Takagi
Kyoto, Japan

Abstract

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.

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.

Findings

Significant association was observed for HLA-DRB1*03 and HLA-DRB1*13 in all 33 patients (P c < 0.001 and P c < 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 < 0.001) was observed when compared with controls.

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.

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