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.

Methylenetetrahydrofolate reductase gene rs1801133 polymorphism and essential hypertension risk from a comprehensive analysis

Background Essential hypertension (EH) is common and multifactorial disorders likely to be influenced by multiple genes. The methylenetetrahydrofolate reductase (MTHFR) gene rs1801133 polymorphism is related to MTHFR enzyme activity and to plasma homocysteine concentration. In addition, variations in MTHFR functions likely play roles in the etiology of EH. So far, larger number of studies between MTHFR rs1801133 polymorphism and EH have provided controversial or inconclusive results. To better assess the purported relationship, we performed a comprehensive analysis of 50 publications. Methods Eligible studies were identified by searching the PubMed, Wanfang and CNKI databases. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess this association. Results Overall, increased significant associations were detected between MTHFR rs1801133 polymorphism and EH risk (such as T vs. C: OR = 1.37, 95%CI = 1.24–1.52, P = 0.000), the same as in race subgroup (Asian: T vs. C: OR = 1.46, 95%CI = 1.29–1.67, P = 0.000; China: T vs. C: OR = 1.51, 95%CI = 1.30–1.74, P = 0.000). Similar associations were also found in source of control and genotype methods subgroups. Conclusions Our study showed evidence that MTHFR rs1801133 null genotype may increase EH risk. Future studies with larger sample size are warranted to further evaluate this association in more detail.