RGD Reference Report - Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. - Rat Genome Database
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Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.

Authors: Pawlikowska, L  Tran, MN  Achrol, AS  Ha, C  Burchard, E  Choudhry, S  Zaroff, J  Lawton, MT  Castro, R  McCulloch, CE  Marchuk, D  Kwok, PY  Young, WL  Young, William L 
Citation: Pawlikowska L, etal., Stroke. 2005 Oct;36(10):2278-80. Epub 2005 Sep 22.
RGD ID: 1580962
Pubmed: (View Article at PubMed) PMID:16179574
DOI: Full-text: DOI:10.1161/01.STR.0000182253.91167.fa

BACKGROUND AND PURPOSE: Mutations in endoglin (ENG) and activin-like kinase (ALK1) cause hereditary hemorrhagic telangiectasias, disorders characterized by pulmonary and brain arteriovenous malformations (BAVMs). We investigated whether polymorphisms in these genes are also associated with sporadic BAVM. METHODS: A total of 177 sporadic BAVM patients and 129 controls (all subjects white) were genotyped for 2 variants in ALK1 and 7 variants in ENG. RESULTS: The ALK1 IVS3-35A>G polymorphism was associated with BAVM: (AnyA [AA+AG] genotype: odds ratio, 2.47; 95% CI, 1.38 to 4.44; P=0.002). Two ENG polymorphisms, ENG -1742A>G and ENG 207G>A, showed a trend toward association with BAVM that did not reach statistical significance. CONCLUSIONS: A common polymorphism in ALK1 is associated with sporadic BAVM, suggesting that genetic variation in genes mutated in familial BAVM syndromes may play a role in sporadic BAVMs.

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Genes (Homo sapiens)
ENG  (endoglin)


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