ABSTRACT
BACKGROUND: Distribution of cytokine gene polymorphisms may vary significantly among different ethnic groups, and eventually contribute to observed differences in disease frequencies. OBJECTIVES: To genotype 22 cytokine polymorphisms in the Macedonian population. The Macedonian population consists of 301 healthy unrelated individuals. METHODS: Blood samples were collected after written consent, DNA was isolated from peripheral blood, and 22 polymorphisms were typed: IL-1alpha -889, IL-1beta -511, IL-1beta +3962, IL-1R psti1970, IL-1RN mspa11100, IL-4Ralpha +1902, IL-12 -1188, IFNgamma utr5644, TGF-beta1 cdn10, TGF-beta1 cdn25, TNF-alpha -308, TNF-alpha -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 (Heidelberg kit). The population genetics analysis package, PyPop, was used for analysis of the cytokine data. RESULTS: Test of neutrality (Fnd) showed negative value, but was significantly different from 0 for TGF-beta1 1 cdn10 and IFNgamma utr5644 (p of F = 0.001, and 0.012 respectively). Several SNPs (IL-1alpha -889, IL-1beta +3962, IL-2 + 166, IL-4 -1098, IL-4 -590, IL-4 -33, and IL-10 -592) were not in HWP (p 0.005). Test of neutrality for cytokine haplotypes (TGF-beta1, TNFalpha, IL-2, IL-4, IL-6, and IL-10) showed significantly difference from 0 only for IL-2 haplotypes (p=0.020). CONCLUSION: The results of cytokine polymorphisms in Macedonian population can be used for anthropological comparisons, as well as for association studies with different diseases (Tab. 6, Ref. 34). Full Text (Free, PDF) www. bmj. sk.
Subject(s)
Cytokines/genetics , Polymorphism, Genetic , Adult , Gene Frequency , Genotype , Haplotypes , Humans , Republic of North MacedoniaABSTRACT
Human platelet antigen (HPA) systems consist of more than 12 bi-allelic antigen polymorphisms. Due to these polymorphisms, platelet-membrane glycoproteins can be recognized as alloantigens or autoantigens and can cause conditions such as fetomaternal alloimmune thrombocytopenia, post-transfusion refractoriness to platelets, and post-transfusion throbocytopenic purpura. The purpose of this study was to investigate the distribution of HPA-1, -2, -3, and -5 in Macedonian population by using the polymerase chain reaction and restriction fragment length polymorphism. The allele frequencies were 0.865 for HPA-1a, 0.135 for HPA-1b, 0.852 for HPA-2a, 0.148 for HPA-2b, 0.578 for HPA-3a, 0.422 for HPA-3b, 0.909 for HPA-5a, and 0.091 for HPA-5b. Results of our study were not significantly different from those reported in the other European studies. Our population displayed the highest frequency for HPA-2b allele (0.148) reported among European population.
Subject(s)
Antigens, Human Platelet/genetics , Blood Platelets/immunology , Gene Frequency , Genetics, Population , Alleles , Antigens, Human Platelet/classification , Humans , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Republic of North MacedoniaABSTRACT
The Macedonian population is of special interest for HLA anthropological study in the light of unanswered questions regarding its origin and relationship with other populations, especially the neighbouring Balkanians. Two studies have been performed to examine HLA molecular polymorphism in the Macedonian population, so far. The present study is the first to be performed in Macedonia using high-resolution sequence-based method for direct HLA typing. The study included 158 unrelated healthy volunteers of Macedonian origin and nationality, having a Christian Orthodox religion. After the simultaneous amplification of exon-2 on both HLA-DRB1 alleles, DNA sequencing was used for genotype assignment. In the 158 samples analysed, all 316 alleles were typed and a total of 29 different DRB1 alleles were detected, with DRB1*1601 being the most frequent allele (14.9%), followed by DRB1*1104 (13.9%). A phylogenetic tree constructed on the basis of the high-resolution data deriving from other populations revealed the clustering of Macedonians together with other Balkan populations (Greeks, Croats, Turks and Romanians) and Sardinians, close to another "European" cluster consisting of the Italian, French, Danish, Polish and Spanish populations. The included African populations grouped on the opposite side of the tree.
