title: The role of polymorphisms of genes CXCL12/CXCR4 and MIF in the risk development IBD the Polish population.
abstract: Inflammatory bowel disease (IBD) are characterized recurrent inflammation of gastrointestinal tract. The etiology and pathogenesis this disease is currently unclear, but it has become evident that immune and genetic factors are involved in this process. The aim of this study was to determine whether gene polymorphisms: MIF-173 G/C; CXCL12-801 G/A and CXCR4 C/T exon 2 position of rs2228014 is associated with susceptibility to IBD. A total of 286 patients were examined with IBD, including 152 patients with ulcerative colitis and 134 with Crohn's disease (CD) and 220 healthy subjects were recruited from the Polish population. Genotyping for polymorphisms in CXCL12/CXCR4 and MIF was performed by RFLP-PCR. Statistical significance was found for polymorphisms CXCR4, a receptor gene for CXCL12 genotypes and alleles in CD and for genotype C/T and T allele in ulcerative colitis with respect to control. This confirms the effect of CXCL12 gene. The interplay between CXCL12 and its receptor CXCR4 affects homeostasis and inflammation in the intestinal mucosa. Three-gene analysis in CD confirmed the association of genotype GGGGCT. Statistical analysis of clinical data of patients with ulcerative colitis showed significant differences in the distribution of genotype C/T and T allele for CXCR4 in the left-side colitis. Having CXCR4/CXCL12 chemokine axis polymorphisms may predispose to the development of IBD. Activation can also be their defensive reaction to the long-lasting inflammation.
authors.affiliation: Department of Chemistry and Clinical Biochemistry, Medical University of Lodz, Hallera 1, 90-647, Lodz, Poland, jerzy.mrowicki@umed.lodz.pl.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Mrowicki
authors.forename: Karolina
authors.initials: K
authors.lastname: Przybylowska-Sygut
authors.forename: Lukasz
authors.initials: L
authors.lastname: Dziki
authors.forename: Andrzej
authors.initials: A
authors.lastname: Sygut
authors.forename: Jan
authors.initials: J
authors.lastname: Chojnacki
authors.forename: Adam
authors.initials: A
authors.lastname: Dziki
authors.forename: Ireneusz
authors.initials: I
authors.lastname: Majsterek
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D054377:Chemokine CXCL12 / Q000235:genetics* / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D003093:Colitis, Ulcerative / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D019746:Intramolecular Oxidoreductases / Q000235:genetics* / Q000276:immunology; D008263:Macrophage Migration-Inhibitory Factors / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011044:Poland; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D019718:Receptors, CXCR4 / Q000235:genetics* / Q000276:immunology
chemical_list: C515255:CXCL12 protein, human; C527276:CXCR4 protein, human; D054377:Chemokine CXCL12; D008263:Macrophage Migration-Inhibitory Factors; D019718:Receptors, CXCR4; D019746:Intramolecular Oxidoreductases; C515598:MIF protein, human