title: Allelic frequency of the MCP-1 promoter -2518 polymorphism in the Turkish population and in Turkish patients with juvenile rheumatoid arthritis.
abstract: Although genetic and environmental factors contribute to the pathogenesis of juvenile rheumathoid arthritis (JRA), the etiology and pathogenesis remain controversial. The objective of this study was to investigate genotypic and allelic frequencies of monocyte chemoattractant protein-1 (MCP-1) gene -2518 (G/A) polymorphism in the healthy Turkish population and patients with JRA. Genomic DNA was collected from 66 JRA patients and 150 healthy individuals. To evaluate the association of the -2518 (G/A) MCP-1 gene polymorphism with the outcome of JRA, we analyzed the types of JRA and the score on the childhood health assessment questionnaire (C-HAQ score). In the healthy Turkish population, the frequencies of A and G alleles were 71 and 29%, respectively. No significant difference was observed between the JRA patients and healthy subjects in the distribution allelic and genotypic frequencies of the -2518 (G/A) MCP-1 gene polymorphism (p>0.05). However, the AG genotype was found to be higher and the AA genotype was found to be lower in the patients with systemic type JRA compared to those with the other types of JRA (p=0.019). When the JRA patients were evaluated according to the C-HAQ score, we found that the -2518 (G/A) MCP-1 gene polymorphism did not relate the prognosis (p>0.05). AG genotype was found to be higher in the systemic type of JRA. The results indicate that MCP-1 gene polymorphism might slightly associate with patients with systemic JRA. Further studies are needed to elucidate the role of this polymorphism in the pathogenesis of JRA in various populations because this polymorphism has a functional significance and an ethnic difference.
authors.affiliation: Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
authors.forename: A Ruhi
authors.initials: AR
authors.lastname: Ozyürek
authors.forename: Dolunay
authors.initials: D
authors.lastname: Gürses
authors.forename: Zülal
authors.initials: Z
authors.lastname: Ulger
authors.forename: Ertürk
authors.initials: E
authors.lastname: Levent
authors.forename: A Rahmi
authors.initials: AR
authors.lastname: Bakiler
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli
mesh_terms: D000293:Adolescent; D001171:Arthritis, Juvenile / Q000235:genetics*; D018932:Chemokine CCL2 / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014421:Turkey
chemical_list: C111835:CCL2 protein, human; D018932:Chemokine CCL2