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

Acta Neurochirurgica

Volumn 154, Issue 3, 2012, Pages 445-454

  Kraemer, Markus ^a   Horn, Peter A ^b   Roder, Constantin ^c   Khan, Nadia ^d   Diehl, Rolf R ^a   Berlit, Peter ^a   Heinemann, Falko M ^b  

^a Alfried Krupp von Bohlen und Halbach Hospital   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

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

Indexed keywords

ADULT; ARTICLE; CAUCASIAN; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE; GENE FREQUENCY; HLA A ANTIGEN GENE; HLA B ANTIGEN GENE; HLA DQB1 ANTIGEN GENE; HLA DRB1 ANTIGEN GENE; HUMAN; MALE; MARKER GENE; MOYAMOYA DISEASE; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; CASE-CONTROL STUDIES; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HLA ANTIGENS; HLA-A ANTIGENS; HLA-B ANTIGENS; HLA-DQ BETA-CHAINS; HLA-DRB1 CHAINS; HUMANS; MALE; MIDDLE AGED; MOYAMOYA DISEASE; YOUNG ADULT;

EID: 84857896888     PISSN: 00016268     EISSN: 09420940     Source Type: Journal    
DOI: 10.1007/s00701-011-1261-5     Document Type: Article

References (52)

1. Achrol AS, Guzman R, Lee M, Steinberg GK (2009) Pathophysiology and genetic factors in moyamoya disease. Neurosurg Focus 26:E4
2. Andreone V, Ciarmiello A, Fusco C, Ambrosanio G, Florio C, Linfante I (1999) Moyamoya disease in Italian monozygotic twins. Neurology 53:1332-1335 (Pubitemid 29480097)
3. Aoyagi M, Ogami K, Matsushima Y, Shikata M, Yamamoto M, Yamamoto K (1995) Human leukocyte antigen in patients with moyamoya disease. Stroke 26:415-417
4. Bax M, van Heemst J, Huizinga TW, Toes RE (2011) Genetics of rheumatoid arthritis: what have we learned? Immunogenetics 63:459-466
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 28:822-832 (Pubitemid 351784513)
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 67:278-285
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 84:617-627
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 18:876-880 (Pubitemid 38072941)
10. Heinemann FM (2009) HLA genotyping and antibody characterization using the Luminex multiplex technology. Transfus Med Hemother 36:273-278
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 75:259-264
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 46:558-563
13. Houkin K, Abe H, Yoshimoto T, Takahashi A (1996) Is " unilateral"moyamoya disease different from moyamoya disease? J Neurosurg 85:772-776
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 64:533-537 (Pubitemid 129500535)
15. Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M (2000) Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol 15:179-182 (Pubitemid 30202245)
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 42:507-515 (Pubitemid 28104146)
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 56:34-40
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) 145:1061-1071, discussion 1071
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 41:173-176
20. Kitahara T, Okumura K, Semba A, Yamaura A, Makino H (1982) Genetic and immunologic analysis on moya-moya. J Neurol Neurosurg Psychiatry 45:1048-1052 (Pubitemid 13234412)
21. Kraemer M, Berlit P (2010) Primary central nervous system vasculitis and moyamoya disease: similarities and differences. J Neurol 257:816-819
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 39:3193-3200
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 78:542-550, quiz 551
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 42:1138-1139
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
29. Maiers M, Gragert L, Klitz W (2007) High-resolution HLA alleles and haplotypes in the United States population. Hum Immunol 68:779-788 (Pubitemid 47379974)
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, HLADR7, and HLA-DQ3 and hypersensitivity to HIV-1 reversetranscriptase inhibitor abacavir. Lancet 359:727-732 (Pubitemid 34215071)
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 55:126-130 (Pubitemid 43235137)
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:2437-2443
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 70:2357-2363
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 77:1025-1029 (Pubitemid 44338522)
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 88:718-728
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 64:137-151 (Pubitemid 36109823)
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):10-12 (Pubitemid 46625839)
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 54-60
39. Parums DV, Brown DL, Mitchinson MJ (1990) Serum antibodies to oxidized low-density lipoprotein and ceroid in chronic periaortitis. Arch Pathol Lab Med 114:383-387 (Pubitemid 20135843)
40. Parums DV, Dunn DC, Dixon AK, Mitchinson MJ (1990) Characterization of inflammatory cells in a patient with chronic periaortitis. Am J Cardiovasc Pathol 3:121-129
41. Roder C, Nayak NR, Khan N, Tatagiba M, Inoue I, Krischek B (2010) Genetics of moyamoya disease. J Hum Genet 55:711-716
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) 152:2153-2160
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 27:245-252
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 15:117-122
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 49:278-281 (Pubitemid 38856021)
46. Takagi Y (2010) Vascular smooth muscle cell-related molecules and cells. In: Cho BK, Tominaga T (eds) Moyamoya disease update. Spinger, Heidelberg, pp 69-72
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) 47:1-4 (Pubitemid 46168933)
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 28:1733-1738 (Pubitemid 27391441)
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 31:930-935 (Pubitemid 30198441)
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 92:113-118
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 (Pubitemid 27489065)