| Full text | |
| Author(s): Show less - |
Chenou, F.
[1]
;
Albuquerque, D. M.
[2]
;
Leonardo, D. P.
[2]
;
Domingos, I. F.
[3]
;
Bezerra, M. A. C.
[3]
;
Araujo, A. S.
[4]
;
Blotta, M. H. S. L.
[1]
;
Costa, F. F.
[2]
;
Sonati, M. F.
[1]
;
Paula, V, E.
;
Santos, M. N. N.
[1]
Total Authors: 11
|
| Affiliation: | [1] Univ Estadual Campinas, UNICAMP, Sch Med Sci, Dept Clin Pathol, Rua Vital Brasil 50, BR-13083888 Campinas, SP - Brazil
[2] V, Univ Estadual Campinas, Hematol & Hemotherapy Ctr, UNICAMP, Campinas, SP - Brazil
[3] Fed Univ Pernambuco UFPE, Dept Genet, Recife, PE - Brazil
[4] Hematol & Hemotherapy Fdn Pernambuco HEMOPE, Recife, PE - Brazil
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | BIOCHEMICAL GENETICS; v. 58, n. 4, p. 580-594, AUG 2020. |
| Web of Science Citations: | 0 |
| Abstract | |
The impaired bioavailability of endogenous nitric oxide (NO) in sickle cell anemia (SCA) may be influenced by polymorphisms in the endothelial nitric oxide synthase gene (eNOS). We compared allelic/genotypic frequencies of theeNOSpolymorphisms T-786C, VNTR4a/b and G894T between 89 adult SCA patients and 100 healthy controls, and investigated the relationship between these SNPs and markers of hemolysis {[}lactate dehydrogenase (LDH), indirect bilirubin (IB) and reticulocyte counts], inflammation {[}interleukins IL-1 beta, IL-6, IL-8, Tumor Necrosis Factor (TNF-alpha) and C-reactive protein (CRP)] and endothelial dysfunction (ED) {[}soluble vascular cell adhesion molecule-1 (sVCAM-1), soluble intercellular adhesion molecule-1 (sICAM-1), soluble L-selectin (sL-selectin), von Willebrand Factor (vWF) antigen and D-dimers] in the patients. The frequencies of the mutant-786C allele and -786C/C genotype were significantly higher in patients (p = 0.02 andp = 0.04, respectively) but not significantly correlated with the markers. For VNTR4a/b and G894T, the allelic/genotypic frequencies did not statistically differ between patient and control groups. Patients carrying the 4a allele and those with the 894G/G genotype showed a significant decrease in IB (p = 0.02 andp = 0.04, respectively), and only patients with the 4a allele exhibited reduced IL-1 beta (p = 0.01). The correlation profiles between markers of inflammation and ED significantly differed between patients carrying the mutant alleles and those with wild-type genotypes. This appears to be the first report on the relationship betweeneNOSgene polymorphisms and markers of hemolysis, inflammation and ED in Brazilian SCA patients. Our results indicate that the SNPs analyzed may influence the phenotypic variability of these patients. (AU) | |
| FAPESP's process: | 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches |
| Grantee: | Fernando Ferreira Costa |
| Support Opportunities: | Research Projects - Thematic Grants |