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

被引：66

作者：

Sharan, K

Surrey, S

Ballas, S

Borowski, M

Devoto, M

Wang, KF

Sandler, E

Keller, M

机构：

[1] Thomas Jefferson Univ, Jefferson Med Coll, Dept Med, Cardeza Fdn Hematol Res, Philadelphia, PA 19107 USA

[2] Thomas Jefferson Univ, Jefferson Med Coll, Dept Med, Div Hematol, Philadelphia, PA 19107 USA

[3] Nemours Childrens Clin, Dept Biomed Res, Wilmington, DE USA

[4] Univ Genoa, Dipartimento Oncol Biol & Genet, Genoa, Italy

[5] Nemours Childrens Clin, Div Hematol Oncol, Jacksonville, FL USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2004年 / 124卷 / 02期

关键词：

sickle cell disease; acute chest syndrome; nitric oxide; genetic modifier; polymorphism;

D O I：

10.1046/j.1365-2141.2003.04762.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：240 / 243

页数：4

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