RGD Reference Report - Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil: role of COL1A1. - Rat Genome Database

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Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil: role of COL1A1.

Authors: Almeida, L  Oliveira, J  Guimaraes, LH  Carvalho, EM  Blackwell, JM  Castellucci, L 
Citation: Almeida L, etal., Infect Genet Evol. 2015 Mar;30:225-9. doi: 10.1016/j.meegid.2014.12.034. Epub 2015 Jan 3.
RGD ID: 11041176
Pubmed: PMID:25562121   (View Abstract at PubMed)
PMCID: PMC4315723   (View Article at PubMed Central)
DOI: DOI:10.1016/j.meegid.2014.12.034   (Journal Full-text)

Previous studies have demonstrated a role for wound healing genes in resolution of cutaneous lesions caused by Leishmania spp. in both mice and humans, including the gene FLI1 encoding Friend leukemia virus integration 1. Reduction of Fli1 expression in mice has been shown to result in up-regulation of collagen type I alpha 1 (Col1a1) and alpha 2 (Col1a2) genes and, conversely, in down-regulation of the matrix metalloproteinase 1 (Mmp1) gene, suggesting that Fli1 suppression is involved in activation of the profibrotic gene program. Here we examined single nucleotide polymorphisms (SNPs) in these genes as risk factors for cutaneous (CL) and mucosal leishmaniasis (ML), and leishmaniasis per se, caused by L. braziliensis in humans. SNPs were genotyped in 168 nuclear families (250 CL; 87 ML cases) and replicated in 157 families (402 CL; 39 ML cases). Family-based association tests (FBAT) showed the strongest association between SNPs rs1061237 (combined P=0.002) and rs2586488 (combined P=0.027) at COL1A1 and CL disease. This contributes to our further understanding of the role of wound healing in the resolution of CL disease, providing potential for therapies modulating COL1A1 via drugs acting on FLI1.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cutaneous leishmaniasis  IAGP 11041176DNA:SNPs: :rs1061237 and rs2586488 (human)RGD 
cutaneous leishmaniasis  ISOCOL1A1 (Homo sapiens)11041176; 11041176DNA:SNPs: :rs1061237 and rs2586488 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Col1a1  (collagen type I alpha 1 chain)

Genes (Mus musculus)
Col1a1  (collagen, type I, alpha 1)

Genes (Homo sapiens)
COL1A1  (collagen type I alpha 1 chain)


Additional Information