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Association of T‐786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease
Author(s) -
Sharan K.,
Surrey S.,
Ballas S.,
Borowski M.,
Devoto M.,
Wang K.F.,
Sandler E.,
Keller M.
Publication year - 2004
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2003.04762.x
Subject(s) - enos , acute chest syndrome , medicine , allele , confidence interval , disease , polymorphism (computer science) , gastroenterology , logistic regression , cardiology , nitric oxide , gene , sickle cell anemia , genetics , biology , nitric oxide synthase
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.