Polymorphisms in transforming growth factor-β-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations
Polymorphisms in transforming growth factor-β-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations
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DOI：
10.1161/01.str.0000182253.91167.fa
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发表时间：
2005-10-01
期刊：
影响因子：
8.3
通讯作者：
Young, WL
中科院分区：
文献类型：
--
作者：
Pawlikowska, L;Tran, MN;Young, WL
背景和目的-内源性神经营养因子(ENG)和激活素样激酶(ALK1)基因突变可导致遗传性出血性毛细血管扩张，以肺和脑动静脉畸形(BAVM)为特征。结果：ALK1IVS3-35A>；G基因多态性与散发性脑动静脉畸形相关(ANYA[AA+AG]基因型：优势比，2.47；95%CI，1.38~4.44；P=0.002)。ENG-1742A>；G和ENG 207G>；A两个基因多态性与脑动静脉畸形有关联的趋势，但无统计学意义。结论ALK1基因的一个常见多态与散发性脑动静脉畸形有关，提示家族性脑动静脉畸形综合征中基因突变的遗传变异可能在散发性脑动静脉畸形中起作用。
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.