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1.
Viruses ; 13(7)2021 07 02.
Article in English | MEDLINE | ID: mdl-34372500

ABSTRACT

The emergence of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) evolved into a worldwide outbreak, with the first Polish cases in February/March 2020. This study aimed to investigate the molecular epidemiology of the circulating virus lineages between March 2020 and February 2021. We performed variant identification, spike mutation pattern analysis, and phylogenetic and evolutionary analyses for 1106 high-coverage whole-genome sequences, implementing maximum likelihood, multiple continuous-time Markov chain, and Bayesian birth-death skyline models. For time trends, logistic regression was used. In the dataset, virus B.1.221 lineage was predominant (15.37%), followed by B.1.258 (15.01%) and B.1.1.29 (11.48%) strains. Three clades were identified, being responsible for 74.41% of infections over the analyzed period. Expansion in variant diversity was observed since September 2020 with increasing frequency of the number in spike substitutions, mainly H69V70 deletion, P681H, N439K, and S98F. In population dynamics inferences, three periods with exponential increase in infection were observed, beginning in March, July, and September 2020, respectively, and were driven by different virus clades. Additionally, a notable increase in infections caused by the B.1.1.7 lineage since February 2021 was noted. Over time, the virus accumulated mutations related to optimized transmissibility; therefore, faster dissemination is reflected by the second wave of epidemics in Poland.


Subject(s)
COVID-19/epidemiology , COVID-19/virology , SARS-CoV-2/classification , SARS-CoV-2/genetics , Bayes Theorem , Evolution, Molecular , Genetic Variation , Genome, Viral , Humans , Molecular Epidemiology , Mutation , Phylogeny , Poland/epidemiology , Prevalence , Whole Genome Sequencing
2.
Acta Inform Med ; 26(3): 156-159, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30515004

ABSTRACT

INTRODUCTION: Several analysis for different population conclude that endothelial plasminogen activator inhibitor 1 gene polymorphism, -675 ID, 4G/5G PAI-1 (ref SNP ID: rs1799889, also described as rs34857375, has merged into rs1799762) may increase risk of pregnancy loss (PL). However, there is a disagreement as to the association 4G allele with pregnancy loss. AIM: Therefore, we decided to investigate the -675 ID, 4G/5G PAI-1 as a potential genetic factor linked to PL in European and worldwide populations. A systematic review of the scientific literature was conducted with the use of the PubMed and Scopus electronic databases (1991-present), using the following search terms: pregnancy loss, miscarriage, genetic risk of thrombophilia, rs1799889 PAI-1 gen, 4G/5G PAI-1 gene polymorphism, PAI-1 gene locus 4G/5G polymorphism. RESULTS: Among European populations, the statistically significant association between 4G allele and recurrent PL only in Czechs and Bulgarian women was found (p<0.002 and p=0.018, respectively); while, among populations outside Europe in Iranian, Tunisian and Turkish women (each p<0.001). CONCLUSIONS: We concluded, that both in Europe and elsewhere in the world, the high frequency of 4G allele in population, is not unambiguously linked with the risk of pregnancy loss.

3.
Bosn J Basic Med Sci ; 17(4): 309-314, 2017 Nov 20.
Article in English | MEDLINE | ID: mdl-28488549

ABSTRACT

The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs6025), F2 G>A (rs1799963) and MTHFR C>T (rs1801133) polymorphisms in Bosnian women. A total of 154 women with PL, mean age 33 (±5.4) years, were enrolled in the study. As a control group, 154 mothers [mean age 31.4 (±6.7) years] with at least one live-born child were included. We used real-time polymerase chain reaction (PCR) to determine the frequencies of F5 G>A and F2 G>A genotypes, and PCR-restriction fragment length polymorphism (RFLP) for analyzing MTHFR C>T genotypes. The frequency of heterozygotes for F5 and F2 was significantly higher in women with venous thrombosis (VT) compared to women without VT (p = 0.047 and p = 0.001, respectively). There was no significant difference in the distribution of MTHFR genotypes and alleles between these two groups. In addition, we observed no significant differences in the genotype and allele frequencies between the group with PL and control group, for all investigated polymorphisms. The allele frequencies for 1691A (F5), 20210A (F2), and 677T (MTHFR) reported in this study are consistent with the data obtained for other European countries, however, we were not able to confirm the association between the three polymorphisms and PL in Bosnian women.


Subject(s)
Abortion, Spontaneous/epidemiology , Abortion, Spontaneous/genetics , Factor V/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Prothrombin/genetics , Adult , Bosnia and Herzegovina/epidemiology , Female , Gene Frequency , Genotype , Humans , Polymorphism, Single Nucleotide , Pregnancy , Pregnancy Complications, Cardiovascular/epidemiology , Pregnancy Complications, Cardiovascular/genetics , Prevalence , Risk Factors , Venous Thrombosis/epidemiology , Venous Thrombosis/genetics
4.
Ann Hum Biol ; 42(6): 576-80, 2015.
Article in English | MEDLINE | ID: mdl-25357225

ABSTRACT

BACKGROUND: Venous thrombosis (VT) affects 1-2 out of 10(3) individuals each year. Mutations of 1691G > A FV gene, 20210G > A PT gene and 677C > T gene MTHFR are common in Europe and increase the risk of venous thrombosis. To the authors' knowledge, this is the first report on the prevalence of these mutations in the general population of Bosnia and Herzegovina. AIM: The aim of this study was to simultaneously analyse main VT associated polymorphisms and compare the results with those published for other European populations. DATA SOURCES: Electronic databases including Medline and Embase were searched from 1995 to December 2013. SUBJECTS AND METHODS: The subjects of the study consisted of 100 unrelated healthy people from Bosnia and Herzegovina (82 female and 18 male). The mean age of the cohort was 58.8 (± 10.7) years. PCR-RFLP was used for measurement of allele frequencies. RESULTS: All three SNPs were found to be polymorphic, with allele frequencies of 6.0%, 6.0% and 37.5% for 1691A FV, 20210A PT and 677T MTHFR, respectively. CONCLUSION: Further studies on larger cohorts with an adequate female-to-male ratio are necessary to confirm a high prevalence of hereditary thrombophilia in the Bosnian population.


Subject(s)
Factor V/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Single Nucleotide , Prothrombin/genetics , Thrombophilia/epidemiology , Adult , Aged , Aged, 80 and over , Bosnia and Herzegovina , Factor V/metabolism , Female , Gene Frequency , Humans , Male , Methylenetetrahydrofolate Reductase (NADPH2)/metabolism , Middle Aged , Mutation , Prevalence , Prothrombin/metabolism , Risk Factors , Thrombophilia/genetics , Young Adult
5.
Bosn J Basic Med Sci ; 12(2): 82-7, 2012 May.
Article in English | MEDLINE | ID: mdl-22642591

ABSTRACT

The 1691G>A FV variant has been described as a common genetic risk factor in venous thromboembolism. The purpose of this study was to provide a further frequency value for 1691G>A FV in Poland and to collate summary data from Central (Poland, Czech, Slovakia), Eastern (Russia, Belarus, Ukraine) and South-Eastern (Slovenia, Croatia, Bosnia and Herzegovina, Serbia, Montenegro, Macedonia, Bulgaria) European countries. For this purpose in 2007 the 1691G>A FV variant was analyzed by polymerase chain reaction-restriction fragment length polymorphism from DNA collected in 2005-2006. We studied 650 subjects: 400 newborns and 250 older individuals (mean age 46.1 y) from Poland and compared results with reports from other countries, as well as with the frequency trend of 845G>A HFE across South-Eastern European countries using centroid cities. From our 1691G>A FV study we identified 626 GG homozygotes, 23 GA heterozygotes, and 1 AA homozygote (n = 650), giving an A allele frequency of 1.9%, and a summed frequency value for Poland of 2.0% (n = 1588); the frequency in Central European countries was 3.9% (n = 4559), mostly due to the high value in the Czech Republic: 5.1% (n = 2819); the South-Eastern European countries had 2.5% (n = 2410). Among the Eastern European countries the 1691G>A FV allele frequency was 1.9% (n=791), between the South-Eastern and Eastern European countries there was no significant difference (p=0.17). We confirm that the 1691G>A FV allele frequency in Poland, as well as other countries compared, is significantly lower than that in Czech.


Subject(s)
Factor V/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Alleles , Child , Child, Preschool , DNA/genetics , Europe/epidemiology , Europe, Eastern/epidemiology , Female , Gene Frequency , Humans , Male , Middle Aged , Mutation/physiology , Poland/epidemiology , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Sample Size , Young Adult
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