The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian populatio... more The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian population. A group composed of 301 healthy unrelated individuals was selected. IL-1 genotyping of the samples was performed by the PCR-SSP procedure followed by analysis of the IL-1 data with the PyPop population genetic analysis software package. The frequency of IL-1 alleles varies from 0.814 for IL1A -889/C, 0.729 for IL-1B +3962/C, 0.698 for IL-1RN mspa 11100/T, 0.671 for IL-1B -511/C, followed by 0.663 for IL-1R psti 1970/C indicating common "wild type" allele. We determined 27 different haplotypes from the total number of 32. The most frequent haplotypes for IL-1 are CCCCT (0.191), CTCCT (0.127), CCCTT (0.098), CCCCC (0.085), CTCTT (0.082). All pairs of loci for IL-1, except for IL-1R psti 1970, are in linkage disequilibrium, with p<0.05. The closest genetic distance is observed between the studied Macedonian population and the population from ItalyTorino, while the most genetically distant populations were TaiwanTsou, and TaiwanYami. It is concluded that IL-1 cluster alleles, genotypes, and haplotypes in Macedonian population show a good concordance with Hardy Weinberg equilibrium and can be used for anthropological comparisons, as well as for association studies with different diseases.
Alpha-1-antitrypsin (AAT) is a protease inhibitor which plays an important role of protector of t... more Alpha-1-antitrypsin (AAT) is a protease inhibitor which plays an important role of protector of the lung tissues against the proteolytic effect of elastase secreted from neutrophils. Its deficiency is associated with liver disease in children and emphysema in adults. So far, more than 75 variants of this protein are defined, but most of the cases of AAT deficiency are caused by homozygosis for the deficient allele PIZ or by heterozygous combination of the 2 most common deficient alleles, PIS and PIZ. A diagnosis in the case of a suspicion of AAT deficiency is carried out by measuring the alpha-1 antitrypsin level in blood and by genotyping the alpha-1 antitrypsin alleles. The importance of early diagnosis resides in the possibility of undergoing a lifestyle modification (such as vigorous smoking cessation, for example) and treatment of pulmonary disease thus significantly decreasing the morbidity. The family studying is important to identify individuals at high risk, and initiation of AAT replacement therapy in individuals. Having in mind the underdiagnosis of this disease, we hope to contribute with this case report to the medical community in Republic of Macedonia to raise the awareness of this disease, and also of the possibilities of exact diagnosis.
The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian populatio... more The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian population. A group composed of 301 healthy unrelated individuals was selected. IL-1 genotyping of the samples was performed by the PCR-SSP procedure followed by analysis of the IL-1 data with the PyPop population genetic analysis software package. The frequency of IL-1 alleles varies from 0.814 for IL1A -889/C, 0.729 for IL-1B +3962/C, 0.698 for IL-1RN mspa 11100/T, 0.671 for IL-1B -511/C, followed by 0.663 for IL-1R psti 1970/C indicating common "wild type" allele. We determined 27 different haplotypes from the total number of 32. The most frequent haplotypes for IL-1 are CCCCT (0.191), CTCCT (0.127), CCCTT (0.098), CCCCC (0.085), CTCTT (0.082). All pairs of loci for IL-1, except for IL-1R psti 1970, are in linkage disequilibrium, with p<0.05. The closest genetic distance is observed between the studied Macedonian population and the population from ItalyTorino, while the most genetically distant populations were TaiwanTsou, and TaiwanYami. It is concluded that IL-1 cluster alleles, genotypes, and haplotypes in Macedonian population show a good concordance with Hardy Weinberg equilibrium and can be used for anthropological comparisons, as well as for association studies with different diseases.
The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian populatio... more The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian population. A group composed of 301 healthy unrelated individuals was selected. IL-1 genotyping of the samples was performed by the PCR-SSP procedure followed by analysis of the IL-1 data with the PyPop population genetic analysis software package. The frequency of IL-1 alleles varies from 0.814 for IL1A -889/C, 0.729 for IL-1B +3962/C, 0.698 for IL-1RN mspa 11100/T, 0.671 for IL-1B -511/C, followed by 0.663 for IL-1R psti 1970/C indicating common "wild type" allele. We determined 27 different haplotypes from the total number of 32. The most frequent haplotypes for IL-1 are CCCCT (0.191), CTCCT (0.127), CCCTT (0.098), CCCCC (0.085), CTCTT (0.082). All pairs of loci for IL-1, except for IL-1R psti 1970, are in linkage disequilibrium, with p<0.05. The closest genetic distance is observed between the studied Macedonian population and the population from ItalyTorino, while the most genetically distant populations were TaiwanTsou, and TaiwanYami. It is concluded that IL-1 cluster alleles, genotypes, and haplotypes in Macedonian population show a good concordance with Hardy Weinberg equilibrium and can be used for anthropological comparisons, as well as for association studies with different diseases.
Alpha-1-antitrypsin (AAT) is a protease inhibitor which plays an important role of protector of t... more Alpha-1-antitrypsin (AAT) is a protease inhibitor which plays an important role of protector of the lung tissues against the proteolytic effect of elastase secreted from neutrophils. Its deficiency is associated with liver disease in children and emphysema in adults. So far, more than 75 variants of this protein are defined, but most of the cases of AAT deficiency are caused by homozygosis for the deficient allele PIZ or by heterozygous combination of the 2 most common deficient alleles, PIS and PIZ. A diagnosis in the case of a suspicion of AAT deficiency is carried out by measuring the alpha-1 antitrypsin level in blood and by genotyping the alpha-1 antitrypsin alleles. The importance of early diagnosis resides in the possibility of undergoing a lifestyle modification (such as vigorous smoking cessation, for example) and treatment of pulmonary disease thus significantly decreasing the morbidity. The family studying is important to identify individuals at high risk, and initiation of AAT replacement therapy in individuals. Having in mind the underdiagnosis of this disease, we hope to contribute with this case report to the medical community in Republic of Macedonia to raise the awareness of this disease, and also of the possibilities of exact diagnosis.
The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian populatio... more The aim of this study was to genotype IL-1 gene cluster polymorphisms in the Macedonian population. A group composed of 301 healthy unrelated individuals was selected. IL-1 genotyping of the samples was performed by the PCR-SSP procedure followed by analysis of the IL-1 data with the PyPop population genetic analysis software package. The frequency of IL-1 alleles varies from 0.814 for IL1A -889/C, 0.729 for IL-1B +3962/C, 0.698 for IL-1RN mspa 11100/T, 0.671 for IL-1B -511/C, followed by 0.663 for IL-1R psti 1970/C indicating common "wild type" allele. We determined 27 different haplotypes from the total number of 32. The most frequent haplotypes for IL-1 are CCCCT (0.191), CTCCT (0.127), CCCTT (0.098), CCCCC (0.085), CTCTT (0.082). All pairs of loci for IL-1, except for IL-1R psti 1970, are in linkage disequilibrium, with p<0.05. The closest genetic distance is observed between the studied Macedonian population and the population from ItalyTorino, while the most genetically distant populations were TaiwanTsou, and TaiwanYami. It is concluded that IL-1 cluster alleles, genotypes, and haplotypes in Macedonian population show a good concordance with Hardy Weinberg equilibrium and can be used for anthropological comparisons, as well as for association studies with different diseases.
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