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000136164 0247_ $$2doi$$a10.1007/s00381-010-1241-8
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000136164 0247_ $$2ISSN$$a0256-7040
000136164 0247_ $$2ISSN$$a1433-0342
000136164 0247_ $$2ISSN$$a1433-0350
000136164 037__ $$aDZNE-2020-02486
000136164 041__ $$aEnglish
000136164 082__ $$a340
000136164 1001_ $$0P:(DE-HGF)0$$aRoder, Constantin$$b0
000136164 245__ $$aCommon genetic polymorphisms in moyamoya and atherosclerotic disease in Europeans.
000136164 260__ $$aMünchen$$bBeck65642$$c2011
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000136164 520__ $$aMoyamoya is the most common cerebrovascular disease in children in Japan. The disease's etiology is still widely unknown. Several publications describe histopathological changes in the walls of affected vessels similar to those seen in atherosclerosis. In this study, we analyzed the DNA of European patients with Moyamoya disease for single nucleotide polymorphisms associated with atherosclerotic changes.We genotyped 17 SNPs in or adjacent to 11 genes (ELN, LIMK1, CDKN2A/B, CXCL12, Pseudogene ENSG00000197218, PSRC1, MTHFD1L, SMAD3, MIA3, PDGF-B, TIMP2) comparing 40 DNA samples of Moyamoya disease patients to 68 healthy controls from central Europe. The mean age of onset of Moyamoya disease (MMD)-related symptoms was 15.4 years of age. Genotyping was performed by sequencing the SNP containing genetic regions with custom-made primers.We found strong association of one SNP (rs599839 [A/G], OR = 2.17, 95% CI = 1.17, 4.05; p = 0.01) with the risk allele G located in the 3' UTR region of the PSRC-1 gene. Three further SNPs (rs8326, rs34208922, rs501120) in or adjacent to the genes ELN and CXCL12 showed tendencies towards risk alleles with p values between 0.1 and 0.2 but did not reach statistical significance in our cohort.Our results indicate a possible parallel of common processes in the genesis of Moyamoya disease and atherosclerotic disease. Further analyses in larger European cohorts and replication in patients of different ethnicity may lead to possible early detection of patients at risk for developing MMD and subsequently to future causative therapies.
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000136164 542__ $$2Crossref$$i2010-08-06$$uhttp://www.springer.com/tdm
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000136164 650_2 $$2MeSH$$aAdolescent
000136164 650_2 $$2MeSH$$aAdult
000136164 650_2 $$2MeSH$$aAtherosclerosis: genetics
000136164 650_2 $$2MeSH$$aEurope
000136164 650_2 $$2MeSH$$aEuropean Continental Ancestry Group: genetics
000136164 650_2 $$2MeSH$$aFemale
000136164 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000136164 650_2 $$2MeSH$$aGenotype
000136164 650_2 $$2MeSH$$aHumans
000136164 650_2 $$2MeSH$$aMale
000136164 650_2 $$2MeSH$$aMoyamoya Disease: genetics
000136164 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000136164 650_2 $$2MeSH$$aYoung Adult
000136164 7001_ $$0P:(DE-HGF)0$$aPeters, Vera$$b1
000136164 7001_ $$0P:(DE-HGF)0$$aKasuya, Hidetoshi$$b2
000136164 7001_ $$0P:(DE-HGF)0$$aNishizawa, Tsutomu$$b3
000136164 7001_ $$0P:(DE-HGF)0$$aTakehara, Yayoi$$b4
000136164 7001_ $$0P:(DE-2719)2000059$$aBerg, Daniela$$b5$$udzne
000136164 7001_ $$0P:(DE-HGF)0$$aSchulte, Claudia$$b6
000136164 7001_ $$0P:(DE-HGF)0$$aKhan, Nadia$$b7
000136164 7001_ $$0P:(DE-HGF)0$$aTatagiba, Marcos$$b8
000136164 7001_ $$0P:(DE-HGF)0$$aKrischek, Boris$$b9$$eCorresponding author
000136164 77318 $$2Crossref$$3journal-article$$a10.1007/s00381-010-1241-8$$b : Springer Science and Business Media LLC, 2010-08-06$$n2$$p245-252$$tChild's Nervous System$$v27$$x0256-7040$$y2010
000136164 773__ $$0PERI:(DE-600)2485513-3$$a10.1007/s00381-010-1241-8$$gVol. 27, no. 2, p. 245 - 252$$n2$$p245-252$$q27:2<245 - 252$$tZeitschrift für Urheber- und Medienrecht / Rechtsprechungsdienst$$v27$$x0256-7040$$y2010
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