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

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 a...

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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.
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description 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.
doi_str_mv 10.1046/j.1365-2141.2003.04762.x
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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.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1046/j.1365-2141.2003.04762.x</identifier><identifier>PMID: 14687036</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>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</subject><ispartof>British journal of haematology, 2004-01, Vol.124 (2), p.240-243</ispartof><rights>2004 INIST-CNRS</rights><rights>Copyright Blackwell Scientific Publications Ltd. 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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.</description><subject>acute chest syndrome</subject><subject>Acute Disease</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Anemia, Sickle Cell - genetics</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Chest Pain - genetics</subject><subject>Diseases of red blood cells</subject><subject>Female</subject><subject>genetic modifier</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hematology</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>nitric oxide</subject><subject>Nitric Oxide Synthase - genetics</subject><subject>Nitric Oxide Synthase Type III</subject><subject>polymorphism</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Retrospective Studies</subject><subject>Sequence Analysis, DNA</subject><subject>Sickle cell anemia</subject><subject>sickle cell disease</subject><subject>Syndrome</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><recordid>eNqNkUFv1DAQhS0EotvCX0AWEtwS7NixkwOHsqIUVNED5Wx5nQnrJYkXT6I2N44c-Y38Ehx2RSVOnMbSfO_pjR8hlLOcM6le7XIuVJkVXPK8YEzkTGpV5HcPyOrv4iFZMcZ0lgTVCTlF3DHGBSv5Y3LCpao0E2pFfpwjBuft6MNAQ0tvfn3_qSu1pvDx-hP9AgPQfejmPsT91mNPb_24pX5wESxCQ3FCB_vRb3znx5mOgVo3jUDdFnCkOA9NDD0kAW2htx3gwQC9-9olCrqONh4XryfkUWs7hKfHeUY-X7y9WV9mV9fv3q_PrzIndVFkReFkusNW4CyA1NrxcsN4Oh-Ay1rppnYaRFWVjbONLlUj5EYLV6dvqkUjxRl5efDdx_BtSilN73EJYgcIE5qKMVVKoRL4_B9wF6Y4pGyG11WpFC9EgqoD5GJAjNCaffS9jbPhzCxVmZ1ZGjFLI2apyvypytwl6bOj_7TpobkXHrtJwIsjYNHZro12cB7vubIseF2zxL0-cLe-g_m_A5g3Hy6Xl_gNxpCwUQ</recordid><startdate>200401</startdate><enddate>200401</enddate><creator>Sharan, K.</creator><creator>Surrey, S.</creator><creator>Ballas, S.</creator><creator>Borowski, M.</creator><creator>Devoto, M.</creator><creator>Wang, K.‐F.</creator><creator>Sandler, E.</creator><creator>Keller, M.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><general>Blackwell Publishing Ltd</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>200401</creationdate><title>Association of T‐786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease</title><author>Sharan, K. ; Surrey, S. ; Ballas, S. ; Borowski, M. ; Devoto, M. ; Wang, K.‐F. ; Sandler, E. ; Keller, M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4722-22c4001a8ecaee477c15b01476ee14967d9c7e3885dcad756d34b73c920093d43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>acute chest syndrome</topic><topic>Acute Disease</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Anemia, Sickle Cell - genetics</topic><topic>Anemias. 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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
title Association of T‐786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease
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