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A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.

Abstract:

GTP cyclohydrolase (GCH1) is rate limiting for tetrahydrobiopterin (BH4) synthesis, where BH4 is a cofactor for nitric oxide (NO) synthases and aromatic hydroxylases. GCH1 polymorphisms are implicated in the pathophysiology of pain, but have not been investigated in African populations. We examined GCH1 and pain in sickle cell anemia where GCH1 rs8007267 was a risk factor for pain crises in discovery (n = 228; odds ratio [OR] 2.26; P = 0.009) and replication (n = 513; OR 2.23; P = 0.004) coho...

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Publication status:
Published

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Publisher copy:
10.1002/ajh.23613

Authors


Youngblood, V More by this author
Darbari, DS More by this author
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Journal:
American journal of hematology
Volume:
89
Issue:
2
Pages:
187-193
Publication date:
2014-02-05
DOI:
EISSN:
1096-8652
ISSN:
0361-8609
URN:
uuid:77541561-2bd9-46f0-8abc-f2c11fa1491e
Source identifiers:
434365
Local pid:
pubs:434365

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