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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.
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 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.