RGD Reference Report - Polymorphisms in CCL5 promoter are associated with pulmonary tuberculosis in northern Spain. - Rat Genome Database

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Polymorphisms in CCL5 promoter are associated with pulmonary tuberculosis in northern Spain.

Authors: Sanchez-Castanon, M  Baquero, IC  Sanchez-Velasco, P  Farinas, MC  Ausin, F  Leyva-Cobian, F  Ocejo-Vinyals, JG 
Citation: Sanchez-Castanon M, etal., Int J Tuberc Lung Dis. 2009 Apr;13(4):480-5.
RGD ID: 4891879
Pubmed: PMID:19335954   (View Abstract at PubMed)

OBJECTIVE: To study whether two functional single nucleotide polymorphisms of the CC chemokine ligand 5 (CCL5) gene could affect susceptibility to pulmonary tuberculosis (TB) in a human immunodeficiency virus negative genetically homogeneous population, containing newly diagnosed patients with active disease. DESIGN: Seventy-six patients with active pulmonary TB (PTB) and 157 healthy control subjects from Cantabria, northern Spain, were genotyped for the CCL5 -403G/A and -28C/G polymorphisms. RESULTS: The frequency of the CCL5-403G/A and -28C/G promoter polymorphisms were significantly different between patients with active TB and control subjects. Three of the four possible haplotypes were also significantly different. The G/G-C/C diplotype was much more frequent in the healthy control group and the G/G-G/G and A/A-C/C diplotypes were more frequent in patients with PTB. CONCLUSION: Our findings indicate that CCL5 may play a role in conferring susceptibility to active PTB. Thus, the -403G and -28C alleles, either separately or combined in the G-C haplotype and the GG/CC diplotype, may be related to protection against PTB. By contrast, the -403A and -28G alleles, the G-G or A-C haplotypes and the G/G-G/G and A/A-C/C diplotypes may confer susceptibility to PTB.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pulmonary tuberculosis susceptibilityIAGP 4891879DNA:snps:5' utr:g.-403G>A rs2280788 and g.-28C>G rs2107538 (human)RGD 
pulmonary tuberculosis susceptibilityISOCCL5 (Homo sapiens)4891879; 4891879DNA:snps:5' utr:g.-403G>A rs2280788 and g.-28C>G rs2107538 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ccl5  (C-C motif chemokine ligand 5)

Genes (Mus musculus)
Ccl5  (C-C motif chemokine ligand 5)

Genes (Homo sapiens)
CCL5  (C-C motif chemokine ligand 5)


Additional Information