Summary
Moyamoya disease is a clinical entity demonstrating a chronic occlusion of the cerebrovascular system. Although some possible etiological factors have been postulated, the etiology of this disease is still unknown. So far, some investigations have suggested the association between moyamoya disease and HLA in the serological typing. However, DNA typing of HLA have not been performed yet. Thus, we performed DNA-typing of HLA in the unrelated Japanese patients with definite moyamoya disease, using the polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) technique. In the total patients,DQB1*0502 had a positive association with the disease. On the other hand,DRB1*0405 andDQB1*0401 showed a negative association. In comparing the early-onset and late-onset groups, two groups did not share the same disease associated alleles at all. Thus, the etiology of moyamoya disease seem to have a genetic background. Furthermore, different genetic factors might also be involved in the difference between the early-onset and late-onset groups.
Similar content being viewed by others
Article PDF
References
Achord JL, Gunn CH, Jackson JF (1982): Regional enteritis and HLA concordance in multiple sibrings. Dig Dis Sci27: 330–332
Aoyagi M, Fukai N, Matsushima Y, Yamamoto M, Yamamoto K (1993): Kinetics of125I-PDGF binding and down-regulation of PDGF receptor in arterial smooth muscle cells derived from patients with moyamoya disease. J Cell Physiol154: 281–288
Aoyagi M, Ogami K, Matsushima Y, Shikata M, Yamamoto M, Yamamoto K (1995): Human leukocyte antigen in patients with moyamoya disease. Stroke26: 415–417
Bodmer JG, Marsh SGE, Albert ED, Bodmer WF, Bontrop RE, Charron D, Dupont B, Erlich HA, Mach B, Mayer WP, Darham P, Sasazuki T, Schneider GMT, Strominger JL, Svejguard A, Terasaki PI (1995): Nomenclature for factors of the HLA system. Tissue Antigens46: 1–18
Burt RD, Vaughan TL, Nisperos B, Swanson M, Berwick M (1994): Protective association between the HLA-A2 antigen and nasopharyngeal carcinoma in US caucasians. Int J Cancer56: 465–467
Date Y, Kimura A, Kato H, Sasazuki T (1996): DNA typing of the HLA-A gene: population study and identification of four new alleles in Japanese. Tissue Antigens47: 93–101
Dong RP, Kimura A, Numano F, Nishimura Y, Sasazuki T (1992): HLA-linked susceptibility and resistance to Takayasu Arteritis. Heart Vessels Suppl7: 73–80
Dong RP, Kimura A, Hashimoto H, Akizuki M, Nishimura Y, Sasazuki T (1993): Difference in HLA-linked genetic background between mixed connective tissue disease and systemic lupus erythematosus. Tissue Antigens41: 20–25
Fukui M, Kawano T (1996): Follow-up study of registered cases in 1995. In: Annual Report 1995 of the Research Committee on Spontaneous Occlusion of the Circle of Willis. pp 12–16 (in Japanese)
Gadoth N (1993): On the probrem of essential and secondary moyamoya and vascular dysplasia in Down syndrome. Brain Dev15: 317–318
Goto Y, Yonekawa Y (1992): Worldwide distribution of moyamoya disease. Neurol Med Chir (Tokyo)32: 883–886
Haldane S (1956): The estimation and significance of the logarithm of a ratio of frequencies. Ann Hum Genet20: 309–311
Hirayama K, Matsushita S, Kikuchi I, Iuchi M, Ohta N, Sasazuki T (1987): HLA-DQ is epistatic to HLA-DR in controlling the immune response to schistosomal antigen in humans. Nature327: 426–430
Hosoda Y (1984): Pathology of so-called spontaneous occlusion of the circle of willis. Pathol Annu19: 221–244
Hugot JP, Laurent-Puig P, Gower-Rousseau, Caillat-Zucman S, Beaugerie L, Dupas JL, Gossum AV, Bonaïti-Pellie C, Cortot A, Thomas G, the G.E.T.A.I.D. (1994): Linkage analyses of chromosome 6 loci, including HLA, in familial aggregations of Crohn disease. Am J Med Genet52: 207–213
Ikeda E, Hosoda Y (1993): Distribution of the thrombotic lesions in the cerebral arteries in spontaneous occlusion of the circle of willis: cerebrovascular moyamoya disease. Clin Neuropathol12: 44–48
Ikeda E, Maruyama I, Hosoda Y (1993): Expression of thrombomodulin in patients with spontaneous occlusion of the circle of willis. Stroke24: 657–660
Ikezaki K, Han HD, Kawano T (1997): Epidemiological survey of moyamoya disease in Korea. Clin Neurol Neurosurg99 Suppl. 2: S6-S10
Kanai N, Fukuyama Y (1992): A genetic study of spontaneous occlusion of the circle of willis (Moyamoya disease). Tokyo Joshi Ikadaigaku Zasshi62: 1227–1258 (in Japanese with English abstract)
Kimura A, Sasazuki T (1992): Eleventh International Histocompatibility Workshop reference protocol for the HLA DNA-typing technique. In: Tsuji K, Aizawa M, Sasazuki T (eds). HLA 1991: Proceedings of the Eleventh International Workshop and Conference. Vol 1. Oxford University Press, Oxford, pp 397–419
Kimura A, Dong RP, Harada H, Sasazuki T (1992): DNA typing of HLA class II genes in B-lymphoblastoid cell lines homozygous for HLA. Tissue Antigens40: 5–12
Kitahara T, Okumura K, Senba A, Yamaura A, Makino H (1982): Genetic and immunologic analysis on moyamoya. J Neurol Neurosurg Psychiatry45: 1048–1052
Kitamura K (1988): Revision of the diagnostic guide of the “Spontaneous occlusion of the circle of Willis.” In: Annual Report 1987 of the Research Committee on Spontaneous Occlusion of the Circle of Willis. pp 119–122 (in Japanese)
Kudo T (1968): Spontaneous occlusion of the circle of Willis: a disease apparently confined to Japanese. Neurology20: 485–496
Masuda J, Ogata J, Yutani C (1993): Smooth muscle cell proliferation and localization of macrophages and T cells in the occlusive intracranial major arteries in moyamoya disease. Stroke24: 1960–1967
Miettinen O (1976): Estimability and estimation in case-referent studies. Am J Epidemiol103: 226–235
Nishimoto A, Takeuchi S (1968): Abnormal cerebrovascular network related to the internal carotid arteries. J Neurosurg29: 255–260
Nishimura Y, Sasazuki T (1987): Suppressor T cells control the HLA-linked low responsiveness to streptococcal antigen in human. Nature327: 426–430
Panegyres PK, Morris JG, O’Neill PJ, Balleine R (1993): Moyamoya-like disease with inflammation. Eur Neurol33: 260–263
Pavlakis SG, Verlander PC, Gould RJ, Strimling BC (1995): Fanconi anemia and moyamoya: evidence for an association. Neurology45: 998–1000
Sasazuki T, Nishimura Y, Muto M, Onta N (1983): HLA-linked genes controlling the immune response and disease susceptibility. Immunol Rev70: 51–75
Suzuki J, Takaku A (1969): Cerebrovascular moyamoya disease: disease showing abnormal net-like vessels in base of brain. Arch Neurol20: 288–299
Suzuki J, Kodama N (1983): Moyamoya disease: a review. Stroke14: 104–109
Suzuki H, Hoshimaru M, Takahashi JA, Kikuchi H, Fukumoto M, Ohta M, Itoh N, Hatanaka M (1994): Immunohistochemical reaction for growth factor receptor in arteries of patients with moyamoya disease. Neurosurgery35: 20–25
Todd JA, Acha-Orbea H, Bell JI, Acha-Orbea H, Bell JI, Chao N, Fronek Z, Jakob CO, Mcdermott M, Sinha AA, Timmerman L, Steinmann L, Mcdevitt HO (1988): A molecular basis for MHC class II-associated autoimmunity. Science240: 1003–1009
Wakai K, Tamakoshi A, Ohno Y, Kawamura T, Ikezaki K, Fukui M (1996): Epidemiology of moyamoya disease in Japan: Findings from a nationwide survey. In: Annual Report 1995 of the Research Committee on Spontaneous Occlusion of the Circle of Willis. pp 33–38 (in Japanese)
Woody RC, Perrot LJ, Beck SA (1992): Neurofibromatosis cerebral vasculopathy in an infant: clinical, neuroradiologic, and neuropathologic studies. Pediatr Pathol12: 613–619
Woolf B (1955): On estimating the relation between blood group and disease. Ann Hum Genet19: 251–253
Yamashita M, Oka K, Tanaka K (1991): Histopathology of the brain vascular network in moyamoya disease. Stroke22: 1358–1362
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Inoue, T.K., Ikezaki, K., Sasazuki, T. et al. DNA typing of HLA in the patients with moyamoya disease. Jap J Human Genet 42, 507–515 (1997). https://doi.org/10.1007/BF02767027
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02767027
Key Words
This article is cited by
-
Progress in moyamoya disease
Neurosurgical Review (2020)
-
Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic Moyamoya angiopathy
Acta Neurochirurgica (2012)