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Klin Lab Diagn ; 62(2): 82-7, 2017 Feb.
Artigo em Russo | MEDLINE | ID: mdl-30615384

RESUMO

The study was carried out to investigate relationship of the level of homocysteine and genetic polymorphisms conditioning disorders of metabolism of folates in healthy population and of various age and gender groups. The study covered 168 donors: 98 males and 70 females. Two gender groups were singled out and in each of them age groups: 18-31, 32-45 and 46-60 years old. The analysis of concentration of homocysteine was implemented using immune chemiluminescence analysis. The polymerase chain reaction was applied for analyzing genetic polymorphisms associated with disorders of folate cycle by genes MTHFR (met hylentetrahydrofolatereductase) (polymorphisms MTHFR: 677 C>T and MTHFR: 1298 A>C), MTR (B12-dependent methionine-synthetase) (polymorphism MTR: 2756 A>G) and MTRR (methionine-synthetase-reductase) (polymorphism MTRR: 66 A>G). The level of homocysteine in blood of donors was reliably higher in male groups of 18-31 and 32-45 years old as against female groups comparable by age. The study established higher rate of occurrence of heterozygous genotypes bringing unfavorable types of polymorphisms of MTHFR and MTRR genes both in male and female groups. The study established higher rate of occurrence of unfavorable genotypes in examined patients in comparison with publications' data. The established statistically significant inverse correlation of concentration of homocysteine and genetic polymorphisms associated with disorders of folate cycle in individuals of young and middle age mainly males, permits to draw a conclusion about absence of their direct relationship. Therefore, implementation of genetic liability to increasing of homocysteine can occur under effect of external unfavorable factors.


Assuntos
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética , Ferredoxina-NADP Redutase/genética , Estudos de Associação Genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Adulto , Alelos , Feminino , Ácido Fólico/genética , Ácido Fólico/metabolismo , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Homocisteína/sangue , Homocisteína/genética , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
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