Allelic polymorphism of F2, F5 and MTHFR genes in population of Ukraine

Tatarskyy, Pavel; Kucherenko, A. M.; Лившиц, Л. А.

doi:10.3103/s0095452710030011

Cited by 8 publications

(11 citation statements)

References 23 publications

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“…The incidence of heterozygotes in the general population is about 45%, with geographical and ethnic variations (5). The prevalence in Southeastern Europe countries are 45%, 43%, 40%, in Hungary, Ukraine, Russia, respectively (5,26). Although a study performed in Germany showed a 2.12 increased risk of DVT for individuals with the heterozygous genotype, found in 43.8% of patients, the majority of studies showed no association with VTE, concordant with our results (33,(35)(36)(37)(38)(39)(40).…”

Section: Discussionmentioning

confidence: 99%

“…26 (24,29,33,35,36) and a 20% increased risk of VTE (37), whereas other studies failed to reveal any significant association (25,(38)(39)(40). Previous Romanian studies regarding thrombophilia in obstetric cases detected frequencies of the homozygous MTHFR 677TT genotype of 19.4% and 19.56% in pregnant patients with haemorrhagic complications and in patients with repetitive spontaneous abortions; no significant associations were found, except for a slightly increased risk for repetitive abortions in the presence of this genotype (41,42).…”

Section: Discussionmentioning

confidence: 99%

“…The prevalence of MTHFR 677TT homozygosity in East European and Balkan populations are 7%, 7.5%, 8%, 11% for Russia, Ukraine, Balkan immigrants in Turkey, and Hungary, respectively (5,26,28). This pattern of distribution is according to a geographical south to north decreased gradient of MTHFR C677T polymorphism frequency, reflected in the highest prevalence of the homozygous genotype in VTE in Italy, 25.6%, and a lower frequency in Germany of 10.6% (29,30).…”

Section: Discussionmentioning

confidence: 99%

“…Several studies regarding MTHFR polymorphisms and VTE were also performed in our geographic area, the Balkans and Eastern Europe (10,(23)(24)(25)(26), but as far as we know, no Romanian data have been previously reported.…”

Section: Introductionmentioning

confidence: 99%

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The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

Popp¹,

Fodor²

2013

Balkan Med J

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IntroductionVenous thromboembolism (VTE) is a multifactorial disease, usually the result of the interaction between a genetic background predisposing to hypercoagulability and acquired risk factors. Although considered idiopathic in 25-50% of cases, investigations may detect a cause in over 80% of the patients with VTE (1). Previous studies have shown that an underlying thrombophilia could be found in about half of patients with a first episode of idiopathic VTE (1, 2). Among the "traditional" thrombophilia factors (such as protein C, protein S or antithrombin III deficiency, Factor V Leiden or Prothrombin G20210A mutations), methylenetetrahydrofolate reductase (MTHFR) polymorphisms associated with hyperhomocysteinemia have recently raised interest. The MTHFR gene encodes the enzyme MTHFR, which regulates the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the substrate for remethylation of homocysteine to methionine. The MTHFR gene is located on the short (p) arm of chromosome 1 at position 36.3. There are two common polymorphisms of the MTHFR gene: the MTHFR 677 CT polymorphism resulting in the substitution of alanine to valine at codon 222 (AlaVal) and the MTHFR 1298 AC polymorphism, resulting in a glutamine to alanine substitution (GluAla). The MTHFR C677T polymorphism, especially in the homozygous state, leads to decreased enzyme activity and hyperhomocysteinemia, whereas the MTHFR A1298C polymorphism presents a less well-defined effect, with a lesser decrease of the enzyme function.The prevalence of the T allele varies among races and ethnic groups: it is more common in Caucasians and Asians (30%) compared to African Americans (11%) (3, 4). In Europe, the lowest frequency is found in Finland (25.1%) and the Netherlands (27.4%) and the highest in Italy (45%; 47.3% in Sicily), France (34%-36%), Hungary (33.7%) and Spain (33%) (5-7). The incidence of the MTHFR C677T polymorphism in the general population is about 45% and 15% for heterozygous and homozygous genotypes, respectively. The prevalence of homozygotes for the MTHFR 677TT polymorphism in Europe varies between 5 and 15%; the heterozygous MTHFR C677T genotype presents the highest prevalence in Italy (44%) and the lowest in Norway (28%) (3,4,8,9).The role of MTHFR polymorphisms in VTE is controversial: some authors have shown an association between the MTHFR C677T polymorphism and VTE (10-14), whereas others have proven the contrary (15)(16)(17)

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

Popp¹,

Fodor²

2013

Balkan Med J

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“…But for MTR A2756G and MTRR A66G polymorphisms, there are not enough studies. Hence, further studies are need to be conducted (Table 1) [39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57][58]. …”

Section: Genetic Susceptibility and The Risk Of Msmentioning

confidence: 99%

The Role of Folate Dependent Genetic Susceptibility in The Risk of Multiple Sclerosis

Asci¹,

Karahalıl²

2017

J Neurol Neurosci

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Background: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) of unknown cause. Epidemiological studies implicate that genetic and environmental factors interplay major roles in the etiology of MS. Several investigators have reported elevated plasma homocysteine and reduced folate and B vitamin levels in MS. Aberrations in one-carbon metabolism have impact in the pathophysiology by genetic susceptibility and increased the risk of MS. Furthermore, abnormalities in a carbon metabolism pathway may result from environmental factors such as reduced levels of vitamin B and folate due to inadequate B vitamin and folate intake from foods or the problems on their synthesis, and genetic factors such as polymorphism in folate -dependent enzymes.

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Analysis of frequencies of polymorphism of folate-cycle genes in women from different regions of ukraine: own study and review

Fesai¹,

Strelko²,

Зайченко³

et al. 2018

Reproductive Endocrinology

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Г.В. СТРЕЛКО к. мед. н., лікар акушер-гінеколог вищої категорії, репродуктолог, головний лікар МЦ ТОВ «Родинне джерело», м. Київ Г.В. ЗАЙЧЕНКО д. мед. н., професор, завідувачка кафедрою фармакології Національного медичного університету ім. О.О. Богомольця В.В. УЛАНОВА лікар акушер-гінеколог вищої категорії, репродуктолог МЦ ТОВ «Родинне джерело», м. Київ Контакти: Фесай Ольга Анатоліївна Медичний центр ТОВ «Родинне джерело» 03186, Київ, авіаконструктора Антонова 2-Б Тел.:

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Allelic polymorphism of F2, F5 and MTHFR genes in population of Ukraine

Abstract: Analysis of F2, F5 and MTHFR genes SNPs allelic vari ants in population of G20210A SNP, GG (96.5 %), GA (3.5 %) for F5 gene G1691A SNP and CC (49.5 %), CT (43 %), TT (7.5 %)

Cited by 8 publications

References 23 publications

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

The Role of Folate Dependent Genetic Susceptibility in The Risk of Multiple Sclerosis

Analysis of frequencies of polymorphism of folate-cycle genes in women from different regions of ukraine: own study and review

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