title: Distribution of 22 cytokine gene polymorphisms in Roma from the Republic of Macedonia.
abstract: The aim of this study was to analyze 22 cytokine polymorphisms in the Roma population from the Republic of Macedonia. The Roma population consists of 77 healthy unrelated individuals, residents of different geographical regions of the Republic of Macedonia (Skopje, Gostivar, and Kochani). Blood samples were collected after obtaining written consent. DNA was isolated from peripheral blood and 22 polymorphisms were typed: IL1A -889, IL1B -511, IL1B +3962, IL1R pst1 1970, IL1RN mspa11100, IL4RA +1902, IL12 -1188, IFNG utr5644, TGF-β1 cdn10, TGF-β1 cdn25, TNF-α -308, TNF-α -238, IL-2 -330, IL-2 +166, IL-4 -1098, IL-4 -590, IL-4 -33, IL-6 -174, IL-6 565, IL-10 -1082, IL-10 -819, and IL-10 -592. Cytokine genotyping was performed by PCR-SSP. The population genetics analysis package, PyPop, was used for analysis of the cytokine data. Fnd was negative and significantly different from 0 for IL-4 -590 (p of F=0.006), IL-10 -1082 (p of F=0.010), IFN utr5644 (p of F=0.024), IL-4 -1098 (p of F=0.026) and TGF-1 cdn25 (p of F=0.001) alleles, as well as for IL-2 haplotypes (p=0.025). Several SNPs (IL-12B -1188, IL-2 -330, IL-4 -1098, IL-4 -590, and IL-10 -1082) were not in HWP (p<0.05). A few SNPs (IL-12B -1188, IL-2 -330, IL-4 -1098, IL-4 -590, and IL-10 -1082) and several observed frequencies of cytokine diplotypes (IL-2/GG:TG, IL-2/TG:TG, IL-4/GCC:GCC, IL-4/TTC:TTC, IL-4/TTT:TTC, IL-10/GCC:GCC, IL-10/ATA:GCC, IL-10/ACC:GCC, and IL-10/ACC:ATA) were not in HWP and were significantly different from the expectations. Hardy Weinberg proportion could not be calculated for TNF genotypes and diplotypes because nearly all genotypes and diplotypes belong to GG genotype or GG:GG diplotype. The results of cytokine polymorphisms in Roma population can be used for characterization of the current genetic profile of the Gypsies, anthropological comparisons, as well as for the association studies with different diseases.
authors.affiliation: Institute of Immunobiology and Human Genetics, Faculty of Medicine, University Ss. Cyril and Methodius, Skopje, Republic of Macedonia.
authors.forename: Dejan
authors.initials: D
authors.lastname: Trajkov
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Petlichkovski
authors.forename: Olivija
authors.initials: O
authors.lastname: Efinska-Mladenovska
authors.forename: Slavica
authors.initials: S
authors.lastname: Hristomanova
authors.forename: Eli
authors.initials: E
authors.lastname: Djulejic
authors.forename: Meri
authors.initials: M
authors.lastname: Kirijas
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Senev
authors.forename: Mirko
authors.initials: M
authors.lastname: Spiroski
mesh_terms: D000328:Adult; D016009:Chi-Square Distribution; D016207:Cytokines / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D015233:Models, Statistical; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D018843:Republic of North Macedonia / Q000453:epidemiology; D006178:Romani People / Q000235:genetics*; D055815:Young Adult
chemical_list: D016207:Cytokines