Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2032
Título: Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study
Autor: Coelho, Andreia
Dias, Alexandra
Morais, Anabela
Nunes, Baltazar
Ferreira, Emanuel
Picanço, Isabel
Faustino, Paula
Lavinha, João
Palavras-chave: Sickle Cell Disease
Haemolysis
Adhesion Molecules
NO Metabolism
Alpha-thalassaemia
Association
Doenças Genéticas
Data: 28-Nov-2013
Editora: John Wiley & Sons Ltd
Citação: Eur J Haematol. 2014;92(3):237-43. Epub 2013 Nov 28
Resumo: Chronic 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2032
ISSN: 0902-4441
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1111/ejh.12226/full
Aparece nas colecções:DEP - Artigos em revistas internacionais
DGH - Artigos em revistas internacionais

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