Cytokine gene polymorphisms in population of ethnic macedonians.
Journal Title: Croatian Medical Journal - Year 2005, Vol 46, Issue 4
Abstract
Aim. To genotype cytokine polymorphisms in the Macedonian population asa part of the international project Cytokine Polymorphism Component (CPC). Methods. The sample consistedof 125 healthy unrelated individuals, 46 men and 79 women, aged 20-35 years. All individuals were ofMacedonian origin and nationality, Christian Orthodox religion, and residents of different regions ofthe Republic of Macedonia. Blood samples were collected after written consent was obtained, DNA was isolatedfrom peripheral blood leukocytes by the phenol-chloroform extraction method, and the samples were storedin the Anthropology section of the Macedonian Human DNA Bank (hDNAMKD). Fourteen cytokine genes wereidentified as candidates: gamma-interferon (IFNgamma); interleukin (IL) 1 alpha (IL-1alpha); IL-1 beta(IL-1beta); IL-1 receptor (IL-1R); IL-1R antagonist (IL-1RA); IL-2; IL-4; IL-4 receptor alpha (IL-4Ralpha);IL-6; IL-10; IL-12B; TGF beta 1 (TGF-beta1); and TNF alpha (TNF-alpha). Cytokine genotyping for the anthropologysamples was performed by polymerase chain reaction with sequence-specific priming (PCR-SSP) (Heidelbergkit). The population genetics analysis package, PyPop, was used for the analysis of the cytokine datafor this report. Results. The frequency of alleles for some single nucleotide polymorphisms (SNP) variedfrom 0.967 for TGF-beta1 cdn25/G and 0.920 for TNF-alpha -238/G, to 0.914 for IL-1alpha -889/C, indicatingcommon "wild type" allele in those cytokines. For the most SNPs, the test of neutrality showed negativevalue for F(nd) statistic, which indicated balancing selection operating on the alleles at that locus.F(nd) was negative and significantly different from 0 for IFNgamma UTR5644 and TGF-beta1 cdn10 (P=0.006and P=0.007, respectively). Most of SNPs showed a good fit with HWP expectations. A few SNPs (IL-1alpha-889, IL-1beta -511, IL-1beta+3962, and IFNgammaUTR5644) were not in HWP (P
Authors and Affiliations
Dejan Trajkov, Todor Arsov, Aleksandar Petlichkovski, Ana Strezova, Olivija Efinska-Mladenovska, Mirko Spiroski
Keywords
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