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

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• 作者：Markus Kraemer (1)
  Peter A. Horn (2)
  Constantin Roder (3)
  Nadia Khan (4)
  Rolf R. Diehl (1)
  Peter Berlit (1)
  Falko M. Heinemann (2)
  
• 关键词：Human leucocyte antigen genes ; Caucasian patients ; Moyamoya angiopathy ; Moyamoya disease ; Genetic background ; Genetics
• 刊名：Acta Neurochirurgica
• 出版年：2012
• 出版时间：March 2012
• 年：2012
• 卷：154
• 期：3
• 页码：445-454
• 全文大小：182KB
• 参考文献：1. Achrol AS, Guzman R, Lee M, Steinberg GK (2009) Pathophysiology and genetic factors in moyamoya disease. Neurosurg Focus 26:E4 CrossRef
  2. Andreone V, Ciarmiello A, Fusco C, Ambrosanio G, Florio C, Linfante I (1999) Moyamoya disease in Italian monozygotic twins. Neurology 53:1332-335
  3. Aoyagi M, Ogami K, Matsushima Y, Shikata M, Yamamoto M, Yamamoto K (1995) Human leukocyte antigen in patients with moyamoya disease. Stroke 26:415-17 CrossRef
  4. Bax M, van Heemst J, Huizinga TW, Toes RE (2011) Genetics of rheumatoid arthritis: what have we learned? Immunogenetics 63:459-66 CrossRef
  5. Chessman D, Kostenko L, Lethborg T, Purcell AW, Williamson NA, Chen Z, Kjer-Nielsen L, Mifsud NA, Tait BD, Holdsworth R, Almeida CA, Nolan D, Macdonald WA, Archbold JK, Kellerher AD, Marriott D, Mallal S, Bharadwaj M, Rossjohn J, McCluskey J (2008) Human leukocyte antigen class I-restricted activation of CD8+ T cells provides the immunogenetic basis of a systemic drug hypersensitivity. Immunity 28:822-32 CrossRef
  6. Fukui M (1997) Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis (‘moyamoya-disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 99(Suppl 2):S238–S240
  7. Goyal MS, Hallemeier CL, Zipfel GJ, Rich KM, Grubb RL Jr, Chicoine MR, Moran CJ, Cross DT 3rd, Dacey RG Jr, Derdeyn CP (2010) Clinical features and outcome in North American adults with idiopathic basal arterial occlusive disease without moyamoya collaterals. Neurosurgery 67:278-85 CrossRef
  8. Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM (2009) Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 84:617-27 CrossRef
  9. Han H, Pyo CW, Yoo DS, Huh PW, Cho KS, Kim DS (2003) Associations of Moyamoya patients with HLA class I and class II alleles in the Korean population. J Korean Med Sci 18:876-80
  10. Heinemann FM (2009) HLA genotyping and antibody characterization using the Luminex multiplex technology. Transfus Med Hemother 36:273-78 CrossRef
  11. Herve D, Touraine P, Verloes A, Miskinyte S, Krivosic V, Logeart D, Alili N, Laredo JD, Gaudric A, Houdart E, Metzger JP, Tournier-Lasserve E, Woimant F (2010) A hereditary moyamoya syndrome with multisystemic manifestations. Neurology 75:259-64 CrossRef
  12. Hong SH, Wang KC, Kim SK, Cho BK, Park MH (2009) Association of HLA-DR and -DQ genes with familial Moyamoya disease in Koreans. J Korean Neurosurg Soc 46:558-63 CrossRef
  13. Houkin K, Abe H, Yoshimoto T, Takahashi A (1996) Is "unilateral" moyamoya disease different from moyamoya disease? J Neurosurg 85:772-76 CrossRef
  14. Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T (1999) Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 64:533-37 CrossRef
  15. Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M (2000) Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol 15:179-82 CrossRef
  16. Inoue TK, Ikezaki K, Sasazuki T, Ono T, Kamikawaji N, Matsushima T, Fukui M (1997) DNA typing of HLA in the patients with moyamoya disease. Jpn J Hum Genet 42:507-15 CrossRef
  17. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S (2011) A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 56:34-0 CrossRef
  18. Khan N, Schuknecht B, Boltshauser E, Capone A, Buck A, Imhof HG, Yonekawa Y (2003) Moyamoya disease and Moyamoya syndrome: experience in Europe; choice of revascularisation procedures. Acta Neurochir (Wien) 145:1061-071, discussion 1071 CrossRef
  19. Kim SJ, Heo KG, Shin HY, Bang OY, Kim GM, Chung CS, Kim KH, Jeon P, Kim JS, Hong SC, Lee KH (2010) Association of thyroid autoantibodies with moyamoya-type cerebrovascular disease: a prospective study. Stroke 41:173-76 CrossRef
  20. Kitahara T, Okumura K, Semba A, Yamaura A, Makino H (1982) Genetic and immunologic analysis on moya-moya. J Neurol Neurosurg Psychiatry 45:1048-052 CrossRef
  21. Kraemer M, Berlit P (2010) Primary central nervous system vasculitis and moyamoya disease: similarities and differences. J Neurol 257:816-19 CrossRef
  22. Kraemer M, Berlit P, Diesner F, Khan N (2011) What is the expert’s option on antiplatelet therapy in moyamoya disease? Results of a worldwide Survey. Eur J Neurol. doi:10.1111/j.1468-1331.2011.03481.x
  23. Kraemer M, Heienbrok W, Berlit P (2008) Moyamoya disease in Europeans. Stroke 39:3193-200 CrossRef
  24. Kraemer MHF, Horn P, Venker C, Berlit P, Krischek B, Khan N (2011) Inheritance of Moyamoya disease in a Caucasian familiy. Eur J Neurol. doi:10.1111/j.1468-1331.2011.03536.x
  25. Kramer M, Berlit P (2010) [Moyamoya disease - a rare vasculopathy in Europeans]. Fortschr Neurol Psychiatr 78:542-50, quiz 551 CrossRef
  26. Krischek B, Kasuya H, Khan N, Tatagiba M, Roder C, Kraemer M (2011) Genetic and clinical characteristics of Moyamoya disease in Europeans. Acta neurochirurgica Supplement 112
  27. Li H, Zhang ZS, Dong ZN, Ma MJ, Yang WZ, Han C, Du MM, Liu YX, Yang H, Liu W, Duan L, Cao WC (2011) Increased thyroid function and elevated thyroid autoantibodies in pediatric patients with moyamoya disease: a case–control study. Stroke 42:1138-139 CrossRef
  28. Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A (2011) Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6:e22542 CrossRef
  29. Maiers M, Gragert L, Klitz W (2007) High-resolution HLA alleles and haplotypes in the United States population. Hum Immunol 68:779-88 CrossRef
  30. Mallal S, Nolan D, Witt C, Masel G, Martin AM, Moore C, Sayer D, Castley A, Mamotte C, Maxwell D, James I, Christiansen FT (2002) Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir. Lancet 359:727-32 CrossRef
  31. Martorana D, Vaglio A, Greco P, Zanetti A, Moroni G, Salvarani C, Savi M, Buzio C, Neri TM (2006) Chronic periaortitis and HLA-DRB1*03: another clue to an autoimmune origin. Arthritis Rheum 55:126-30 CrossRef
  32. Milewicz DM, Ostergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES (2010) De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 152A:2437-443 CrossRef
  33. Mineharu Y, Liu W, Inoue K, Matsuura N, Inoue S, Takenaka K, Ikeda H, Houkin K, Takagi Y, Kikuta K, Nozaki K, Hashimoto N, Koizumi A (2008) Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology 70:2357-363 CrossRef
  34. Mineharu Y, Takenaka K, Yamakawa H, Inoue K, Ikeda H, Kikuta KI, Takagi Y, Nozaki K, Hashimoto N, Koizumi A (2006) Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. J Neurol Neurosurg Psychiatry 77:1025-029 CrossRef
  35. Miskinyte S, Butler MG, Herve D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E (2011) Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. Am J Hum Genet 88:718-28 CrossRef
  36. Muller CR, Ehninger G, Goldmann SF (2003) Gene and haplotype frequencies for the loci hLA-A, hLA-B, and hLA-DR based on over 13,000 german blood donors. Hum Immunol 64:137-51 CrossRef
  37. Oudshoorn M, Horn PA, Tilanus M, Yu N (2007) Typing of potential and selected donors for transplant: methodology and resolution. Tissue Antigens 69(Suppl 1):10-2 CrossRef
  38. Park MH, Hong SH, Wang K-C (2010) HLA studies in Moyamoya disease. In: Cho BK, Tominaga T (eds) Moyamoya disease update. Springer, New York, pp 54-0 CrossRef
  39. Parums DV, Brown DL, Mitchinson MJ (1990) Serum antibodies to oxidized low-density lipoprotein and ceroid in chronic periaortitis. Arch Pathol Lab Med 114:383-87
  40. Parums DV, Dunn DC, Dixon AK, Mitchinson MJ (1990) Characterization of inflammatory cells in a patient with chronic periaortitis. Am J Cardiovasc Pathol 3:121-29
  41. Roder C, Nayak NR, Khan N, Tatagiba M, Inoue I, Krischek B (2010) Genetics of moyamoya disease. J Hum Genet 55:711-16 CrossRef
  42. Roder C, Peters V, Kasuya H, Nishizawa T, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B (2010) Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients. Acta Neurochir (Wien) 152:2153-160 CrossRef
  43. Roder C, Peters V, Kasuya H, Nishizawa T, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B (2011) Common genetic polymorphisms in moyamoya and atherosclerotic disease in Europeans. Childs Nerv Syst 27:245-52 CrossRef
  44. Roder C, Peters V, Kasuya H, Nishizawa T, Wakita S, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B (2011) Analysis of ACTA2 in European Moyamoya disease patients. Eur J Paediatr Neurol 15:117-22 CrossRef
  45. Sakurai K, Horiuchi Y, Ikeda H, Ikezaki K, Yoshimoto T, Fukui M, Arinami T (2004) A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet 49:278-81 CrossRef
  46. Takagi Y (2010) Vascular smooth muscle cell-related molecules and cells. In: Cho BK, Tominaga T (eds) Moyamoya disease update. Spinger, Heidelberg, pp 69-2 CrossRef
  47. Takagi Y, Kikuta K, Nozaki K, Hashimoto N (2007) Histological features of middle cerebral arteries from patients treated for Moyamoya disease. Neurol Med Chir (Tokyo) 47:1- CrossRef
  48. Yamamoto M, Aoyagi M, Tajima S, Wachi H, Fukai N, Matsushima Y, Yamamoto K (1997) Increase in elastin gene expression and protein synthesis in arterial smooth muscle cells derived from patients with Moyamoya disease. Stroke 28:1733-738 CrossRef
  49. Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, Abe H, Inoue T, Ikezaki K, Matsushima T, Fukui M (2000) Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 31:930-35 CrossRef
  50. Yonekawa Y, Fandimo J, Hug M, Wiesli M, Fujioka M, Khan N (2010) Moyamoya angiopathy in Europe. In: Cho BK, Tominaga T (eds) Moyamoya disease update. Springer, New York
  51. Yonekawa Y, Khan N (2003) Moyamoya disease. Adv Neurol 92:113-18
  52. Yonekawa Y, Ogata N, Kaku Y, Taub E, Imhof HG (1997) Moyamoya disease in Europe, past and present status. Clin Neurol Neurosurg 99(Suppl 2):S58–S60 CrossRef
  
• 作者单位：Markus Kraemer (1)
  Peter A. Horn (2)
  Constantin Roder (3)
  Nadia Khan (4)
  Rolf R. Diehl (1)
  Peter Berlit (1)
  Falko M. Heinemann (2)
  
  1. Department of Neurology, Alfried-Krupp-von Bohlen und Halbach Hospital, Alfried-Krupp-Stra?e 21, 45117, Essen, Germany
  2. Institute for Transfusion Medicine, University Hospital Essen, Virchowstra?e 179, 45147, Essen, Germany
  3. Department of Neurosurgery, University of Tübingen, Hoppe-Seyler-Stra?e 3, 72076, Tübingen, Germany
  4. Moyamoya Clinic, Children’s Hospital Zurich, University Clinic of Zurich, Steinwiesstra?e 75, 8032, Zurich, Switzerland
  

文摘

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-lt;-.001 and P c-lt;-.001, respectively). Moreover, HLA-A*02 (P c--.009); HLA-B*08 (P c--.009), and HLA-DQB1*03 (P c--.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-lt;-.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.