title: Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease.
abstract: Acute chest syndrome (ACS) is a life-threatening complication of sickle cell disease (SCD). A retrospective study was performed to evaluate the role of endothelial nitric oxide synthase (eNOS) gene polymorphisms (E298D and T-786C) in African-American SCD patients. The D298 allele showed no association; the C-786 allele showed a statistically significant association (P = 0.0061) in female ACS cases. Multiple logistic regression analysis showed that relative risk of ACS was 8.695 (P = 0.0076, 95% confidence interval 1.761-42.920) for female carriers of C-786. eNOS T-786C is a gender-specific genetic modifier that is associated with increased susceptibility to ACS in female SCD patients.
authors.affiliation: Division of Hematology and Cardeza Foundation for Hematologic Research, Department of Medicine, Jefferson Medical College, 7th Floor Curtis Building, 1015 Walnut Street, Philadelphia, PA 19107, USA.
authors.forename: K
authors.initials: K
authors.lastname: Sharan
authors.forename: S
authors.initials: S
authors.lastname: Surrey
authors.forename: S
authors.initials: S
authors.lastname: Ballas
authors.forename: M
authors.initials: M
authors.lastname: Borowski
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: K-F
authors.initials: KF
authors.lastname: Wang
authors.forename: E
authors.initials: E
authors.lastname: Sandler
authors.forename: M
authors.initials: M
authors.lastname: Keller
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002637:Chest Pain / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D019001:Nitric Oxide Synthase / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III; D011110:Polymorphism, Genetic / Q000235:genetics; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III