Association of T‐786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease

• Published in: British journal of haematology 2004-01, Vol.124 (2), p.240-243
• Main Authors: Sharan, K., Surrey, S., Ballas, S., Borowski, M., Devoto, M., Wang, K.‐F., Sandler, E., Keller, M.
• Format: Article
• Language: English
• Subjects: acute chest syndrome; Acute Disease; Adolescent; Adult; Aged; Anemia, Sickle Cell - genetics; Anemias. Hemoglobinopathies; Biological and medical sciences; Chest Pain - genetics; Diseases of red blood cells; Female; genetic modifier; Genetic Predisposition to Disease; Genotype; Hematologic and hematopoietic diseases; Hematology; Humans; Male; Medical sciences; Middle Aged; nitric oxide; Nitric Oxide Synthase - genetics; Nitric Oxide Synthase Type III; polymorphism; Polymorphism, Genetic - genetics; Retrospective Studies; Sequence Analysis, DNA; Sickle cell anemia; sickle cell disease; Syndrome
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.2003.04762.x

Summary 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.