title: The association of V249I and T280M fractalkine receptor haplotypes with disease course of multiple sclerosis.
abstract: We investigated the association of CX3CR1 genotypes/haplotypes with MS and performed the prediction analysis of protein sequence variants' effects on CX3CL1/CX3CR1 interaction. We found no association of CX3CR1 with MS susceptibility. Frequency of I(249)T(280) haplotype was significantly lower in SP compared to RR patients (RR>10 years, OR=0.30, 95%CI=0.11-0.79, p=0.01; OR=0.53, 95%CI=0.18-1.56, p=0.2, in SP<10 years vs. RR>10 years). Prediction analysis showed that I249 T280 protein variant would significantly affect CX3CL1/CX3CR1 interaction. Our results suggest that CX3CR1 I₂₄₉T₂₈₀ haplotype could have protective effect for switch to SP MS. Further research is warranted to validate and replicate currently observed results.
authors.affiliation: Laboratory for Radiobiology and Molecular Genetics, "Vinča" Institute of Nuclear Sciences, University of Belgrade, Belgrade, Serbia.
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Stojković
authors.forename: Tamara
authors.initials: T
authors.lastname: Djurić
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Stanković
authors.forename: Evica
authors.initials: E
authors.lastname: Dinčić
authors.forename: Olja
authors.initials: O
authors.lastname: Stančić
authors.forename: Nevena
authors.initials: N
authors.lastname: Veljković
authors.forename: Dragan
authors.initials: D
authors.lastname: Alavantić
authors.forename: Maja
authors.initials: M
authors.lastname: Zivković
mesh_terms: D000328:Adult; D000073883:CX3C Chemokine Receptor 1; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D020528:Multiple Sclerosis, Chronic Progressive / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic / Q000235:genetics; D019707:Receptors, Chemokine / Q000235:genetics*; D013912:Threonine / Q000235:genetics; D014633:Valine / Q000235:genetics
chemical_list: D000073883:CX3C Chemokine Receptor 1; C095235:CX3CR1 protein, human; D019707:Receptors, Chemokine; D007532:Isoleucine; D013912:Threonine; D008715:Methionine; D014633:Valine