RGD Reference Report - Genetic variants in the chemokines and chemokine receptors in Chagas disease. - Rat Genome Database

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Genetic variants in the chemokines and chemokine receptors in Chagas disease.

Authors: Flórez, Oscar  Martín, Javier  González, Clara Isabel 
Citation: Flórez O, etal., Hum Immunol. 2012 Aug;73(8):852-8. doi: 10.1016/j.humimm.2012.04.005. Epub 2012 Apr 23.
RGD ID: 39939013
Pubmed: PMID:22537745   (View Abstract at PubMed)
DOI: DOI:10.1016/j.humimm.2012.04.005   (Journal Full-text)

Clinical symptoms of Chagas' disease occur in 30% of the individuals infected with Trypanosoma cruzi and are characterised by heart inflammation and dysfunction. Chemokines and chemokine receptors control the migration of leukocytes during the inflammatory process and are involved in the modulation of Th1 or Th2 responses. To determine their influence, we investigated the possible role of CCL5/RANTES and CXCL8/IL8 chemokines, and CCR2 and CCR5 chemokines receptors cluster gene polymorphisms with the development of chagasic cardiomyopathy. Our study included 260 Chagas seropositive individuals (asymptomatic, n=130; cardiomyopathic, n=130) from an endemic area of Colombia. Genotyping was performed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and TaqMan SNP genotyping assay. We found statistically significant differences in the distribution of the CCR5 human haplogroup (HH)-A (p=0.027; OR=3.78, 95% CI=1.04-13.72). Moreover, we found that the CCR5-2733 G and CCR5-2554 T alleles are associated, respectively, with a reduced risk of susceptibility and severity to develop chagasic cardiomyopathy. No other associations were found to be significant for the other polymorphisms analysed in the CCR5, CCR2, CCL5/RANTES and CXCL8/IL8 genes. Our data suggest that the analysed chemokines and chemokine receptor genetic variants have a weak but important association with the development of chagasic cardiomyopathy in the population under study.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Chagas Cardiomyopathy disease_progressionIAGP 39939013DNA:SNP:promoter:g.-251A>T (rs4073) (human)RGD 
Chagas Cardiomyopathy disease_progressionISOCXCL8 (Homo sapiens)39939013DNA:SNP:promoter:g.-251A>T (rs4073) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cardiomyopathy disease_progressionIAGP 39939013associated with Chagas disease and DNA:SNP:promoter:g.-251A>T (rs4073) RGD 
Objects Annotated

Genes (Mus musculus)
Cxcl15  (C-X-C motif chemokine ligand 15)

Genes (Homo sapiens)
CXCL8  (C-X-C motif chemokine ligand 8)


Additional Information