Background Inherited thrombophilias are well‐established predisposing factors for venous thromboembolism, but their role in arterial thrombosis, such as arterial ischemic stroke, remains uncertain....

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta-Analysis.

The distribution of polymorphic variants in the MTHFR, MTR and MTRR genes in the contingents of patients with nonsyndromic cleft lip and/or palate (NSCL/P), their mothers, and healthy individuals from Ukraine’s western region was evaluated. It was shown that the presence of the homozygous MTHFR 677TT genotype might lead to a threefold increase in the risk of CL/P; mothers carrying the MTHFR 677TT genotype had a twofold increase in the risk of giving birth to a child with CL/P compared to homozygous carriers of MTHFR 677CC (OR = 3.3 and OR = 1.92, respectively). The presence of the heterozygous genotype MTR 2756AG can lead to a 1.5-fold increase in the risk of CL/P compared to the 2765AA genotype (OR = 1.48). The heterozygous genotype MTRR 66AG is associated with a 5-fold risk of CL/P (OR = 5.56); mothers carrying this genotype had a 2.6-fold increase in the risk of giving birth to a child with CL/P (OR = 2.6). The prevalence of the MTRR 66G allelic variant among inhabitants of Ukraine’s western region was higher compared to the MTRR 66A allelic variant (wild type); and the MTRR 66GG genotype frequency among CL/P patients was significantly lower compared to the control group.

Allelic polymorphisms in the MTHFR, MTR and MTRR genes in patients with cleft lip and/or palate and their mothers

The summarized results of 25-year studies of department of human genomics of IMBG NASU are presented. The investigations were focused on identification of molecular genetic nature of human genome coding and non-coding region mutations (genetic polymorphisms) and rearrangements, their spectrum, and origin in Ukrainian population. The role of genome heterogeneity in some severe monogenic and complex disorder pathogenesis has been shown. The data concerning correlation between certain determinator gene mutations and phenotypical manifestation of most common in Ukraine monogenic diseases have been demonstrated. Moreover, the role of modifying genes in specific clinical phenotype variations has been shown. Origin of particular mutant alleles and main mechanisms of their frequency maintenance in Ukrainian population have been investigated. The data about association of some polymorphic variants with infertility, cardiovascular diseases (ischemic stroke) as well as mass infectious diseases (hepatitis C, AIDS) outcome and standard therapy efficiency have been presented. The first results and prospects for candidate genes of neurodegenerative disorders and intellectual disability search using whole genome CNVs screening are shown.

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Human genome mutation and rearrangement studies - the way to investigate monogenic and complex disease pathogenesis

Background: Recently, increasing evidence has implicated methylenetetrahydrofolate reductase (MTHFR) gene mutation as a risk factor for ischemic stroke (IS) in the general population. However, studies have been inconclusive and lack evidence on specific populations. We aim to determine whether the rs1801133 (NC_000001.11 (MTHFR):g. 677C>T (p.Ala222Val) variant, we termed as MTHFR rs1801133 (677 C>T), is linked to an increased risk of IS in different age groups and ancestry groups. Methods: The literature relevant to our study was found by searching the PubMed, Cochrane Library, Web of Science, EMBASE, and CNKI databases. A random effect model analysis was used to calculate the pooled odds ratio (OR) and 95% confidence interval (CI) to evaluate any possible association. We conducted a subgroup analysis based on the age and ancestry groups of the included populations. Results: As of March 2022, 1,925 citations had been identified in electronic databases, of which 96 studies involving 34,814 subjects met our eligibility criteria. A strong link was found between IS and the MTHFR gene rs1801133 (677C>T) polymorphism in all genetic models [dominant genetic model (OR = 1.47; 95%CI = 1.33–1.61; p < 0.001), recessive genetic model (OR = 1.52; 95%CI = 1.36–1.71; p < 0.001), heterozygous model (OR = 1.36; 95%CI = 1.24–1.48; p < 0.001), homozygous model (OR = 1.82; 95%CI = 1.58–2.11; p < 0.001), and T allelic genetic model (OR = 1.37; 95%CI = 1.27–1.48; p < 0.001)]. Further subgroup analyses indicated that the MTHFR rs1801133 (677C>T) variant may increase the risk of IS in Asian, Hispanic, or Latin population, middle-aged, and elderly populations (p < 0.001). Conclusion: Our results implied that mutation of the T allele of MTHFR rs1801133 (677C>T) could be a risk factor for IS. A significant association was found among Asian, Hispanic, or Latin population, middle-aged, and elderly people.

Association of methylenetetrahydrofolate reductase (MTHFR) rs1801133 (677C>T) gene polymorphism with ischemic stroke risk in different populations: An updated meta-analysis

Aim. To evaluate a possible involvement of the F2, F5, MTHFR gene variants into ischemic stroke pathogenesis in population of Ukraine. Methods. Polymorphic variants were analyzed in unrelated 183 stroke patients, 100 individuals from the general population of Ukraine and 88 healthy individuals elder than 65 years using PCR followed by RFLP analysis. Results. Unfavourable polymorphic variants F2 20210A, F5 1691A and MTHFR 677T were observed more frequently in patients with ischemic stroke comparing to control groups. Conclusions. F5 1691A and MTHFR 677T polymorphic variants are associated with the occurrence of ischemic stroke in women. F2 20210A is associated with the occurrence of ischemic stroke in men. Cumulative risk factor for stroke development is revealed in a combination of unfavorable polymorphic variants 20210A, 1691A and 677T of F2, F5 and MTHFR genes.

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Ischemic stroke in Ukrainian population: possible involvement of the F2 G20210A, F5 G1691A and MTHFR C677T gene variants

AbstractMachine translation (MT) evaluation plays an important task in the translation industry. The main issue in evaluating the MT quality is an unclear definition of translation quality. Several methods and techniques for measuring MT quality have been designed. Our study aims at interconnecting manual error classification with automatic metrics of MT evaluation. We attempt to determine the degrees of association between automatic MT metrics and error classes from English into inflectional Slovak. We created a corpus, which consists of English journalistic texts, taken from the British online newspaper The Guardian and their human and machine translations. The MT outputs, produced by Google translate, were manually annotated by three professionals using a categorical framework for error analysis and evaluated using reference proximity through the metrics of automated MT evaluation. The results showed that not all examined automatic metrics based on n-grams or edit distance should be implemented into a model for determining the MT quality. When determining the quality of machine translation in respect to syntactic-semantic correlativeness, it is sufficient to consider only the Recall, BLEU-4 or F-measure, ROUGE-L and NIST (based on n-grams) and the metric CharacTER, which is based on edit distance.KeywordsMachine translationAutomatic metricsError classification 

Error Classification Using Automatic Measures Based on n-grams and Edit Distance

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Е. В. Кулешевич 1 , А. М. Савичева 2 , О. Н. Аржанова 2 , А. Н. Суворов 1 РАСпРОСТРАНЕННОСТь И ГЕНЕТИчЕСКАЯ ОРГАНИзАЦИЯ "ОСТРОВА пАТОГЕННОСТИ" № xii у КЛИНИчЕСКИх шТАММОВ СТРЕпТОКОККОВ ГР уппЫ В

D. V. Shulzenko

Papers

Ischemic stroke in Ukrainian population: possible involvement of the F2 G20210A, F5 G1691A and MTHFR C677T gene variants

Error Classification Using Automatic Measures Based on n-grams and Edit Distance