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Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study

2013-11-28Journal article Restricted access
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dc.contributor.authorCoelho, Andreia
dc.contributor.authorDias, Alexandra
dc.contributor.authorMorais, Anabela
dc.contributor.authorNunes, Baltazar
dc.contributor.authorFerreira, Emanuel
dc.contributor.authorPicanço, Isabel
dc.contributor.authorFaustino, Paula
dc.contributor.authorLavinha, João
dc.date.accessioned2014-03-11T13:35:13Z
dc.date.available2014-03-11T13:35:13Z
dc.date.issued2013-11-28
dc.description.abstractChronic haemolysis stands out as one of the hallmarks of sickle cell anaemia, a clinically heterogeneous autosomal recessive monogenic anaemia. However, the genetic architecture of this sub-phenotype is still poorly understood. Here, we report the results of an association study between haemolysis biomarkers (serum LDH, total bilirubin and reticulocyte count) and the inheritance of 41 genetic variants of ten candidate genes in a series of 99 paediatric SS patients (median current age of 9.9 yr) followed up in two general hospitals in Greater Lisboa area (median follow-up per patient of 5.0 yr). Although in a large number of tests a seemingly significant (i.e. P < 0.05) association was observed, the following ones were confirmed upon correction for multiple comparisons: (i) an increased serum LDH level was associated with haplotype 7 within VCAM1 gene; (ii) a lower total bilirubin was associated with the 3.7-kb deletion at HBA gene, rs2070744_T allele at NOS3 gene, and haplotype 9 within VCAM1 promoter; and (iii) a diminished reticulocyte count was associated with the 3.7-kb deletion at HBA, whereas an increased count was associated with rs1984112_G allele at CD36 gene. On the whole, our findings suggest a complex genetic architecture for the sickle cell anaemia haemolysis process involving multiple pathways, namely control of vascular cell adhesion, NO synthesis and erythrocyte volume and haemoglobinisation.por
dc.identifier.citationEur J Haematol. 2014;92(3):237-43. Epub 2013 Nov 28por
dc.identifier.issn0902-4441
dc.identifier.otherdoi:10.1111/ejh.12226
dc.identifier.urihttp://hdl.handle.net/10400.18/2032
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherJohn Wiley & Sons Ltdpor
dc.relationDEVELOPMENT AND VALIDATION OF VASO-OCCLUSION EARLY PREDICTORS IN A MENDELIAN MODEL OF VASCULAR DISEASE
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1111/ejh.12226/fullpor
dc.subjectSickle Cell Diseasepor
dc.subjectHaemolysispor
dc.subjectAdhesion Moleculespor
dc.subjectNO Metabolismpor
dc.subjectAlpha-thalassaemiapor
dc.subjectAssociationpor
dc.subjectDoenças Genéticaspor
dc.titleGenetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal studypor
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleDEVELOPMENT AND VALIDATION OF VASO-OCCLUSION EARLY PREDICTORS IN A MENDELIAN MODEL OF VASCULAR DISEASE
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F83084%2F2007/PT
oaire.citation.endPage243por
oaire.citation.startPage237por
oaire.citation.titleEuropean Journal of Haematologypor
oaire.citation.volume92(3)por
oaire.fundingStream5646-ICCMS
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspor
rcaap.typearticlepor
relation.isProjectOfPublication466fa8ec-15ed-4907-9ca9-5fc5c0916fc4
relation.isProjectOfPublication.latestForDiscovery466fa8ec-15ed-4907-9ca9-5fc5c0916fc4

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