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1.
Folia Biol (Praha) ; 66(5-6): 169-178, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-34087973

RESUMO

Previous research suggested that several genetic polymorphisms are associated with increased risk of ischaemic stroke (IS) in young adults. However, the predictive biomarkers of IS in young adults are still unclear. Our aim was to assess the contribution of modifiable and genetic factors in IS in young adults. In total, 40 stroke patients and 40 healthy controls aged 20 to 50 years were recruited. Data on modifiable factors were collected, then participants were genotyped for seven SNPs linked to thrombophilia: ACE rs1799752, PAI-1 rs1799889, APOE rs1412 and rs429358, FV rs6025 and rs1800595, and FII rs62623459. Significantly increased risk factors: hypertension and dyslipidaemia in stroke patients compared with the controls: 50.0 % vs 27.5 % and 75.0 % vs 40.0% (P = 0.039 and P = 0.002, respectively) were observed. Stroke patients compared with controls did not differ in distribution of ACE, APOE, FV, and FII variants. The 4G4G homozygotes of the PAI-1 gene were significantly more prevalent in stroke patients compared to the controls: 42.5 % vs 17.5 %, (P = 0.033). In the group with the small vessel occlusion subtype of stroke, statistically significant overrepresentation of 4G4G homozygotes and frequency of the 4G allele compared with controls: 57.1 % vs 17.5 % and 0.7 vs 0.45 (P = 0.026 and P = 0.03, respectively) were observed. Independent predictors of stroke incident were: dyslipidaemia (OR (95% CI) = 4.2 (1.4-12.4)) and 4G4G genotype (OR (95% CI) = 3.9 (1.1-13.7)). These results confirm the contribution of dyslipidaemia and 4G4G genotype in the increased risk of IS in young Bosnian adults.


Assuntos
Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Adulto , Biomarcadores , Isquemia Encefálica/complicações , Isquemia Encefálica/genética , Humanos , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Acidente Vascular Cerebral/genética , Adulto Jovem
2.
Folia Biol (Praha) ; 64(2): 65-69, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30338758

RESUMO

Due to inconsistent results of APOE variants in the survival of pregnancy we investigated the potential relationship of APOE rs7412 and rs429358 with pregnancy loss (PL) in Bosnian women. We enrolled 154 women with PL. The minimum week of miscarriage was 6, while the maximum was 28. As a control group, an equal number of mothers with at least one live-born child was included. All women were recruited from the Institution of Health Protection of Women and Motherhood in Sarajevo, Bosnia and Herzegovina. Genotyping was performed by real- time PCR at the Department of General Pharmacology and Pharmacoeconomics, Pomeranian Medical University. The prevalence of genotypes E2/E3, E2/E4, E3/E3, E3/E4, E4/E4 in the group with and without PL were: 14.3 %, 1.3 %, 70.8 %, 12.3 %, 1.3 %, and 13.6 %, 1.3 %, 70.1 %, 14.3 %, 0.7 %, respectively. The frequency of the E4/E4 genotype in women with 1-2 and 3-4 PL compared to women without PL did not differ significantly between those three groups (P value = 0.0712). The frequencies of alleles ԑ2, ԑ3, ԑ4 in the group with and without PL were: 6.8 %, 85.1 %, 8.1 % and 7.5 %, 84.1 %, 8.4 %, respectively, and did not differ significantly. We conclude that our study does not confirm rs7412 and rs429358 as a potential risk factor for PL in the studied group. To elucidate the relationship between PL and variants of the APOE gene, studies with a larger sample size and placental histomorphology and genetic diagnosis are required.


Assuntos
Aborto Espontâneo/genética , Apolipoproteínas E/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Adulto , Alelos , Bósnia e Herzegóvina , Feminino , Frequência do Gene/genética , Humanos , Gravidez
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