RGD Reference Report - Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease. - Rat Genome Database
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Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease.

Authors: Luz, PR  Miyazaki, MI  Chiminacio Neto, N  Padeski, MC  Barros, AC  Boldt, AB  Messias-Reason, IJ 
Citation: Luz PR, etal., PLoS Negl Trop Dis. 2016 Jan 8;10(1):e0004257. doi: 10.1371/journal.pntd.0004257. eCollection 2016 Jan.
RGD ID: 11076757
Pubmed: (View Article at PubMed) PMID:26745156
DOI: Full-text: DOI:10.1371/journal.pntd.0004257

Chagas disease (CD) is caused by Trypanosoma cruzi, whose sugar moieties are recognized by mannan binding lectin (MBL), a soluble pattern-recognition molecule that activates the lectin pathway of complement. MBL levels and protein activity are affected by polymorphisms in the MBL2 gene. We sequenced the MBL2 promoter and exon 1 in 196 chronic CD patients and 202 controls. The MBL2*C allele, which causes MBL deficiency, was associated with protection against CD (P = 0.007, OR = 0.32). Compared with controls, genotypes with this allele were completely absent in patients with the cardiac form of the disease (P = 0.003). Furthermore, cardiac patients with genotypes causing MBL deficiency presented less heart damage (P = 0.003, OR = 0.23), compared with cardiac patients having the XA haplotype causing low MBL levels, but fully capable of activating complement (P = 0.005, OR = 7.07). Among the patients, those with alleles causing MBL deficiency presented lower levels of cytokines and chemokines possibly implicated in symptom development (IL9, p = 0.013; PDGFB, p = 0.036 and RANTES, p = 0.031). These findings suggest a protective effect of genetically determined MBL deficiency against the development and progression of chronic CD cardiomyopathy.

Annotation

Disease Annotations    

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