RGD Reference Report - Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia. - Rat Genome Database

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Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia.

Authors: Mendonca, TF  Oliveira, MC  Vasconcelos, LR  Pereira, LM  Moura, P  Bezerra, MA  Santos, MN  Araujo, AS  Cavalcanti, MS 
Citation: Mendonca TF, etal., Blood Cells Mol Dis. 2010 Apr 15;44(4):224-8. doi: 10.1016/j.bcmd.2010.02.004. Epub 2010 Feb 20.
RGD ID: 11530044
Pubmed: PMID:20172753   (View Abstract at PubMed)
DOI: DOI:10.1016/j.bcmd.2010.02.004   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Vaso-occlusive Crisis susceptibilityIAGP 11530044associated with Anemia more ...RGD 
Vaso-occlusive Crisis susceptibilityISOMBL2 (Homo sapiens)11530044; 11530044associated with Anemia more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mbl2  (mannose binding lectin 2)

Genes (Mus musculus)
Mbl2  (mannose-binding lectin (protein C) 2)

Genes (Homo sapiens)
MBL2  (mannose binding lectin 2)


Additional Information