RGD Reference Report - Polymorphism of the fractalkine receptor CX3CR1 and systemic sclerosis-associated pulmonary arterial hypertension. - Rat Genome Database

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Polymorphism of the fractalkine receptor CX3CR1 and systemic sclerosis-associated pulmonary arterial hypertension.

Authors: Marasini, B  Cossutta, R  Selmi, C  Pozzi, MR  Gardinali, M  Massarotti, M  Erario, M  Battaglioli, L  Biondi, ML 
Citation: Marasini B, etal., Clin Dev Immunol. 2005 Dec;12(4):275-9.
RGD ID: 4891896
Pubmed: PMID:16584113   (View Abstract at PubMed)
PMCID: PMC2270742   (View Article at PubMed Central)
DOI: DOI:10.1080/17402520500303297   (Journal Full-text)

Fractalkine (FKN) and its receptor CX3CR1 are critical mediators in the vascular and tissue damage of several chronic diseases, including systemic sclerosis (SSc) and pulmonary arterial hypertension (PAH). Interestingly, the V249I and T280M genetic polymorphisms influence CX3CR1 expression and function. We investigated whether these polymorphisms are associated with PAH secondary to SSc. CX3CR1 genotypes were analyzed by PCR and sequencing in 76 patients with limited SSc and 204 healthy controls. PAH was defined by colorDoppler echocardiography. Homozygosity for 249II as well as the combined presence of 249II and 280MM were significantly more frequent in patients with SSc compared to controls (17 vs 6%, p = 0.0034 and 5 vs 1%, p = 0.0027, respectively). The 249I and 280M alleles were associated with PAH (odd ratio [OR] 2.2, 95% confidence interval [CI] 1.01-4.75, p = 0.028 and OR 7.37, 95%CI: 2.45-24.60, p = 0.0001, respectively). In conclusion, the increased frequencies of 249I and 280M CX3CR1 alleles in a subgroup of patients with SSc-associated PAH suggest a role for the fractalkine system in the pathogenesis of this condition. Further, the 249I allele might be associated with susceptibility to SSc.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CX3CR1Humanpulmonary hypertension  IAGP associated with Scleroderma more ...RGD 
Cx3cr1Ratpulmonary hypertension  ISOCX3CR1 (Homo sapiens)associated with Scleroderma more ...RGD 
Cx3cr1Mousepulmonary hypertension  ISOCX3CR1 (Homo sapiens)associated with Scleroderma more ...RGD 
CX3CR1Humansystemic scleroderma  IAGP DNA:polymorphisms: :p.V249I and p.T280M (human)RGD 
Cx3cr1Ratsystemic scleroderma  ISOCX3CR1 (Homo sapiens)DNA:polymorphisms: :p.V249I and p.T280M (human)RGD 
Cx3cr1Mousesystemic scleroderma  ISOCX3CR1 (Homo sapiens)DNA:polymorphisms: :p.V249I and p.T280M (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cx3cr1  (C-X3-C motif chemokine receptor 1)

Genes (Mus musculus)
Cx3cr1  (C-X3-C motif chemokine receptor 1)

Genes (Homo sapiens)
CX3CR1  (C-X3-C motif chemokine receptor 1)


Additional Information