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Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia.
Blood Cells Mol Dis. 2010 Apr 15; 44(4):224-8.BC

Abstract

Vasoocclusive crisis (VOC) is the major cause of morbidity and mortality in sickle cell anemia (SCA), which is caused by the occlusion of blood vessels, followed by ischemia or infarct, resulting in progressive damage to organs. However, this clinical manifestation is variable, indicating that this process could be influenced by modifier genes. The gene MBL2 which codes for mannose-binding lectin (MBL) has been associated with modifications in the progression of infectious and inflammatory vascular diseases. The aim of this study was to determine the frequency of the polymorphisms of exon 1 (alleles A/O) and promoter region -221 (alleles Y/X) of MBL2 in children with SCA and to verify their association with VOC. The determination of the polymorphism of exon 1 and the promoter region of MBL2 was performed by SYBR GREEN((R)) and Taqman((R)) system, respectively. In the patients with SCA, the frequency of the genotype related to high production of MBL was 0.46 (YA/YA) and for intermediate/low production was 0.54 (YA/XA, XA/XA, YA/YO, XA/YO, YO/YO). The frequency of the genotypes and haplotypes of MBL2 in patients with SCA did not differ from control individuals. The populations were in Hardy-Weinberg equilibrium. The patients were divided into two groups. The groups were separated by the frequency of VOC, which was defined by the total of VOC episodes divided by the age of the children at the end of this study. Since, we choose a cut point in FVOC <1 (n=48) (which we considered of mild presentation of disease) and FVOC >or=1 (n=39) (higher severity). In children with SCA, the frequency of the genotypes of MBL2 of intermediate/low expression for MBL was associated with FVOC >or=1 (p=0.0188 OR=3.15 CI=1.19-8.50). The results suggest that MBL2 polymorphism at promoter and first exon of MBL2 associated with low serum levels and structural alterations of MBL could modify the phenotype of the child with SCA related to VOC.

Authors+Show Affiliations

Biological Science Institute and College of Medical Sciences, University of Pernambuco, Recife, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20172753

Citation

Mendonça, T F., et al. "Association of Variant Alleles of MBL2 Gene With Vasoocclusive Crisis in Children With Sickle Cell Anemia." Blood Cells, Molecules & Diseases, vol. 44, no. 4, 2010, pp. 224-8.
Mendonça TF, Oliveira MC, Vasconcelos LR, et al. Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia. Blood Cells Mol Dis. 2010;44(4):224-8.
Mendonça, T. F., Oliveira, M. C., Vasconcelos, L. R., Pereira, L. M., Moura, P., Bezerra, M. A., Santos, M. N., Araújo, A. S., & Cavalcanti, M. S. (2010). Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia. Blood Cells, Molecules & Diseases, 44(4), 224-8. https://doi.org/10.1016/j.bcmd.2010.02.004
Mendonça TF, et al. Association of Variant Alleles of MBL2 Gene With Vasoocclusive Crisis in Children With Sickle Cell Anemia. Blood Cells Mol Dis. 2010 Apr 15;44(4):224-8. PubMed PMID: 20172753.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia. AU - Mendonça,T F, AU - Oliveira,M C V C, AU - Vasconcelos,L R S, AU - Pereira,L M M B, AU - Moura,P, AU - Bezerra,M A C, AU - Santos,M N N, AU - Araújo,A S, AU - Cavalcanti,M S M, Y1 - 2010/02/20/ PY - 2009/08/19/received PY - 2009/11/26/revised PY - 2010/01/20/accepted PY - 2010/2/23/entrez PY - 2010/2/23/pubmed PY - 2010/7/31/medline SP - 224 EP - 8 JF - Blood cells, molecules & diseases JO - Blood Cells Mol. Dis. VL - 44 IS - 4 N2 - Vasoocclusive crisis (VOC) is the major cause of morbidity and mortality in sickle cell anemia (SCA), which is caused by the occlusion of blood vessels, followed by ischemia or infarct, resulting in progressive damage to organs. However, this clinical manifestation is variable, indicating that this process could be influenced by modifier genes. The gene MBL2 which codes for mannose-binding lectin (MBL) has been associated with modifications in the progression of infectious and inflammatory vascular diseases. The aim of this study was to determine the frequency of the polymorphisms of exon 1 (alleles A/O) and promoter region -221 (alleles Y/X) of MBL2 in children with SCA and to verify their association with VOC. The determination of the polymorphism of exon 1 and the promoter region of MBL2 was performed by SYBR GREEN((R)) and Taqman((R)) system, respectively. In the patients with SCA, the frequency of the genotype related to high production of MBL was 0.46 (YA/YA) and for intermediate/low production was 0.54 (YA/XA, XA/XA, YA/YO, XA/YO, YO/YO). The frequency of the genotypes and haplotypes of MBL2 in patients with SCA did not differ from control individuals. The populations were in Hardy-Weinberg equilibrium. The patients were divided into two groups. The groups were separated by the frequency of VOC, which was defined by the total of VOC episodes divided by the age of the children at the end of this study. Since, we choose a cut point in FVOC <1 (n=48) (which we considered of mild presentation of disease) and FVOC >or=1 (n=39) (higher severity). In children with SCA, the frequency of the genotypes of MBL2 of intermediate/low expression for MBL was associated with FVOC >or=1 (p=0.0188 OR=3.15 CI=1.19-8.50). The results suggest that MBL2 polymorphism at promoter and first exon of MBL2 associated with low serum levels and structural alterations of MBL could modify the phenotype of the child with SCA related to VOC. SN - 1096-0961 UR - https://www.unboundmedicine.com/medline/citation/20172753/Association_of_variant_alleles_of_MBL2_gene_with_vasoocclusive_crisis_in_children_with_sickle_cell_anemia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1079-9796(10)00038-0 DB - PRIME DP - Unbound Medicine ER -