التفاصيل البيبلوغرافية
| العنوان: |
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations |
| المؤلفون: |
Pawlikowska, Ludmila, Tran, Mary N, Achrol, Achal S, Ha, Connie, Burchard, Esteban, Choudhry, Shweta, Zaroff, Jonathan, Lawton, Michael T, Castro, Richard, McCulloch, Charles E, Marchuk, Douglas, Kwok, Pui-Yan, Young, William L |
| المصدر: |
Neurosurgery Articles |
| بيانات النشر: |
Barrow - St. Joseph's Scholarly Commons |
| سنة النشر: |
2005 |
| مصطلحات موضوعية: |
Activin Receptors, Type I (genetics), Type II, Adult, Antigens, CD, Arteriovenous Malformations (genetics), Brain (pathology), Case-Control Studies, Cohort Studies, Endoglin, Female, Genetic Variation, Genotype, Humans, Male, Middle Aged, Models, Statistical, Odds Ratio, Polymorphism, Genetic, Receptors, Cell Surface, Transforming Growth Factor beta (metabolism), Vascular Cell Adhesion Molecule-1 (genetics) |
| الوصف: |
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. |
| نوع الوثيقة: |
text |
| اللغة: |
unknown |
| Relation: |
https://scholar.barrowneuro.org/neurosurgery/912 |
| الاتاحة: |
https://scholar.barrowneuro.org/neurosurgery/912 |
| رقم الانضمام: |
edsbas.64C32284 |
| قاعدة البيانات: |
BASE |