Cytokine Polymorphisms in Roma from Macedonia ... polymorphisms in healthy Macedonian population17-19 ...... American Americans and white Americans.
ORIGINAL ARTICLE Iran J Allergy Asthma Immunol December 2012; 11(4): 282-293
Distribution of 22 Cytokine Gene Polymorphisms in Roma from the Republic of Macedonia Dejan Trajkov, Aleksandar Petlichkovski, Olivija Efinska-Mladenovska, Slavica Hristomanova, Eli Djulejic, Meri Kirijas, Aleksandar Senev, and Mirko Spiroski Institute of Immunobiology and Human Genetics, Faculty of Medicine, University "Ss. Cyril and Methodius", Skopje, Republic of Macedonia Received: 19 April 2011; Received in revised form: 20 January 2012; Accepted: 4 March 2012
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), 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 indicates a directional selection. * Statisticaly significant.
285/ IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY Published by Tehran University of Medical Sciences (http://ijaai.tums.ac.ir)
Vol. 11, No. 4, December 2012
D. Trajkov, et al. Table 2. The observed vs. expected cytokine genotypes for each SNP, Hardy Weinberg proportions (HWP), and Guo and Thompson Hardy Weinberg output (GTHWO) in Roma population. Polymorphism
IL1A -889
IL1B -511
IL1B +3962
IL1R pst1 1970
IL1RA mspa11100
IL4RA +1902
IL12B -1188
IFNG UTR5644
TGFB1 cdn10
TGFB1 cdn25
TNFA -308
TNFA -238
IL2 -330
IL2 +160
IL4 -1098
Genotype
Observed
Observed frequency
Expected
p-value
C:C C:T T:T C:C C:T T:T C:C C:T T:T C:C C:T T:T C:C C:T T:T A:A A:G G:G A:A A:C C:C A:A A:T T:T C:C C:T T:T C:G G:G C:C A:G G:G A:A A:G G:G A:A G:G G:T T:T G:G G:T T:T G:T T:T
44 29 4 29 35 14 46 30 2 39 30 9 3 16 58 64 13 1 25 48 4 21 40 16 24 37 16 9 68 0 4 74 0 2 76 0 9 48 20 44 26 7 67 6
0.571 0.377 0.052 0.372 0.449 0.179 0.590 0.385 0.025 0.500 0.385 0.115 0.039 0.208 0.753 0.820 0.167 0.013 0.325 0.623 0.052 0.273 0.519 0.208 0.312 0.480 0.208 0.117 0.883 § 0.051 0.949 § 0.026 0.974 § 0.117 0.623 0.260 0.571 0.338 0.091 0.905 0.081
44.4 28.1 4.4 29.7 37.6 12.7 47.7 26.6 3.7 37.4 33.2 7.4 1.6 18.9 56.6 63.7 13.6 0.7 31.2 35.6 10.2 21.8 38.3 16.8 23.5 38.1 15.5 8.5 68.3 0.3 3.9 74.1 0.1 2.0 76.0 0.0 14.1 37.7 25.1 42.2 29.6 5.2 36.8 21.1
0.947 0.867 § 0.808 0.676 0.720 0.805 0.508 § 0.792 0.575 0.552 § 0.511 0.849 0.972 0.879 § 0.268 0.038* 0.053 0.859 0.788 0.840 0.911 0.861 0.890 0.857 0.975 § § 0.995 § § 0.999 § 0.172 0.094 0.305 0.781 0.507 0.428
