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), IFNγ utr5644 (p of F=0.024), IL-4 -1098 (p of F=0.026) and TGF-β1
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 TNFα 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.