Ethno-Territorial Distribution of the C174M and C235T Polymorphisms of the AGT Gene and C677T of MTGFR Gene in the Population of the Azerbaijan Republic

The prevention of hereditary diseases associated with gene and chromosomal disorders, in particular multifactorial-polygenic diseases is one of actual areas of medical genotyping. For the first time in the population of the Republic of Azerbaijan we have identified mutations C174T and C235T of the angiotensinogen gene and mutation C677T of the methylenetetrahydrofolate reductase gene both in the control group and among patients with diseases of the cardiovascular system. Reliable connections for the frequency of occurrence of polymorphism of the C174T and C235T alleles of the angiotensinogen gene and polymorphism of the C677T allele of the methylenetetrahydrofolate reductase gene were found with a statistical method. To identify the ethno-geographic relationship of the mutations C174T and C235T of the AGT gene for the population of the Azerbaijan Republic, we examined practically healthy individuals and patients with CVD. The composition of this group was multinational and corresponded to the main national and ethnic composition of the Republic. The distribution of the identified mutations C174T and C235T of the AGT gene, as well as the C677T polymorphism of the MTHFR gene among ethnic groups of the Azerbaijan Republic is identified as uneven.

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Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

Revista Romana de Medicina de Laborator ◽

10.1515/rrlm-2017-0003 ◽

2017 ◽

Vol 25 (1) ◽

pp. 27-35

Author(s):

Simona Bucerzan ◽

Radu Anghel Popp ◽

Raluca Maria Vlad ◽

Cecilia Lazea ◽

Radu Nicolaescu ◽

...

Keyword(s):

Trisomy 21 ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr Gene ◽

Control Group ◽

Healthy Children ◽

Mthfr Polymorphisms ◽

Maternal Risk ◽

Reductase Gene ◽

A1298c Polymorphism ◽

Methylenetetrahydrofolate Reductase Gene

Abstract Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers. Methods: For 93 mothers who have children with trisomy 21 and 202 mothers of healthy children (control group), genotyping of MTHFR polymorphisms C677T and A1298C was performed. Results: For each polymorphism, three genotypes were identified (normal homozygous, heterozygous and mutant homozygous). For the polymorphism C677T, the frequencies of the three genotypes (CC, CT and TT) were 50.5%, 40.8% and 8.6% in mothers of children with trisomy 21, versus 42.6%, 46% and 11.4% in mothers of healthy children, with no statistically significant differences. The frequency of the polymorphism A1298C was not statistically significant between the two groups for the genotype (AA) (48.4% vs 56.4%) or the genotype (AC) (39.8% vs 38.6%), but the genotype TT was more frequent in mothers of children with trisomy 21 (11.8% vs 4.9%; p = 0.033; OR = 2.57). Conclusion: Women with genotype CC for the polymorphism A1298C of the MTHFR gene have a 2.57 times higher risk of offspring with trisomy 21.

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СARRIAGE OF GENOTYPES OF METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN PATIENTS WITH MYOCARDIAL INFARCTION IN THE REPUBLIC OF MORDOVIA

Journal of Volgograd State Medical University ◽

10.19163/1994-9480-2018-2(66)-50-54 ◽

2018 ◽

Vol 66 (2) ◽

pp. 50-54

Author(s):

T.A. Degayeva ◽

◽

T.A. Degayeva ◽

L.N. Goncharova ◽

◽

...

Keyword(s):

Myocardial Infarction ◽

Methylenetetrahydrofolate Reductase ◽

Reductase Gene ◽

The Republic ◽

Methylenetetrahydrofolate Reductase Gene

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THE ANALYSIS OF METHYLENETETRAHYDROFOLATE REDUCTASE GENE POLYMORPHISM IN THE PATIENTS WITH ARTERIAL HYPERTENSION IN THE REPUBLIC OF MORDOVIA

Mordovia University Bulletin ◽

10.15507/0236-2910.026.201601.134-143 ◽

2016 ◽

Vol 26 (1) ◽

pp. 134-143

Author(s):

LN Goncharova ◽

Keyword(s):

Gene Polymorphism ◽

Arterial Hypertension ◽

Methylenetetrahydrofolate Reductase ◽

Reductase Gene ◽

The Republic ◽

Methylenetetrahydrofolate Reductase Gene Polymorphism ◽

Methylenetetrahydrofolate Reductase Gene

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Distribution of 1298A > C polymorphism of methylenetetrahydrofolate reductase gene in patients with bipolar disorder and schizophrenia

European Psychiatry ◽

10.1016/j.eurpsy.2006.11.003 ◽

2007 ◽

Vol 22 (1) ◽

pp. 39-43 ◽

Cited By ~ 22

Author(s):

Bartosz Kempisty ◽

Anna Bober ◽

Marta Łuczak ◽

Piotr Czerski ◽

Aleksandra Szczepankiewicz ◽

...

Keyword(s):

Bipolar Disorder ◽

Methylenetetrahydrofolate Reductase ◽

Control Group ◽

Type I ◽

Bonferroni Correction ◽

Homozygous State ◽

Reductase Gene ◽

Disorder Type ◽

Methylenetetrahydrofolate Reductase Gene ◽

Methyl Group Transfer

AbstractWe investigated the genotype frequency of methylenetetrahydrofolate reductase (MTHFR) 1298A > C polymorphism in the group of patients with bipolar disorder type I (BDI) (n = 200) and schizophrenia (n = 200) and in the control group (n = 300). Odds ratio (OR) for patients with BD and schizophrenia in 1298CC homozygous state was 3.768 (95% CI = 1.752–8.104); P = 0.0003; (P = 0.0006 after Bonferroni correction) and 2.694; (95% CI = 1.207–6.013); P = 0.0123 (P = 0.0246 after Bonferroni correction), respectively. The stratification of patients based on gender revealed significant association of 1298CC genotype with female patients only with BDI (OR = 7.293; 95% CI = 2.017–26.363; P = 0.0005).Our results confirm association of BD and schizophrenia with the 1p36.3 MTHFR locus and with the methyl group transfer using folate-dependent one-carbon pathway.

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