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


Kraemer, Markus; Horn, Peter A; Roder, Constantin; Khan, Nadia; Diehl, Rolf R; Berlit, Peter; Heinemann, Falko M (2012). Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic moyamoya angiopathy. Acta Neurochirurgica, 154(3):445-454.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Clinic for Surgery
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2012
Deposited On:12 Mar 2013 17:02
Last Modified:07 Dec 2017 20:29
Publisher:Springer
ISSN:0001-6268
Publisher DOI:https://doi.org/10.1007/s00701-011-1261-5
PubMed ID:22234791

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