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Genetic variation in the wild type ENG allele, inherited from the unaffected parent, associates with presence of pulmonary AVMs in HHT1 patients.
| rs10987746 genotype of wild type ENG allele | HHT1 patients with pulmonary AVM | HHT1 patients no pulmonary AVM |
|---|---|---|
| T | 63 (44.4%) | 79 (55.6%) |
| C | 70 (56.5%) | 54 (43.5%) |
Relative risk of pulmonary AVMs = 1.3 (95% confidence interval = 1.002–1.742) P = 0.018.
