Polymorphism of glutathione S-transferase genes M1 and T1 in patients with motor neuron disease from the city of Moscow

Comparison of the frequency distributions of alleles, genotypes, and genotype combinations of genes GSTM1 and GSTT1 did not show statistically significant differences between patients with motor neuron disease (MND) and a random sample from the Moscow population. Apparently, these genes are not involved in MND pathogenesis in these patients.     

Impact of wildfires on lakeside tamarisk communities in Northern Caspian Sea region

The current state and resilience to wildfire disturbances of the natural tamarisk (Tamarix laxa Willd) communities at on the coasts of Lake Buluchta, a salt lake, Caspian Depression (the Volga and Ural Rivers interfluve) is considered. The unique ecosystems of the natural Tamarisk communities are able to persist in specific biotopes of natural water basins only.     

The pituitary-thyroid axis and oxygen consumption parameters under the conditions of chronic cold exposure in the North

The functional state of the pituitary-thyroid axis (PTA) and oxygen consumption were studied monthly during one year in a group of soldiers from northern European Russia daily staying outdoors for 6–10 h. It was shown that the chronic exposure to low temperatures on the human body was accompanied by activation of metabolism of thyroid hormones, which was evident from accumulation of their free forms. The irritant caused no tension of the central link of the endocrine system, and although the levels of thyroid hormones in the blood were reduced, the mechanism of negative feedback was not activated, which was evidenced by a stably low level of thyrotrophic hormone of the pituitary gland. At the same time, the rapid change in the duration of daytime influencing the central links of the neuroendocrine system resulted in unbalance of feedback mechanisms. The illumination factor under the conditions of chronic hypothermia proved to be a stronger irritant for the central link of the endocrine system than the signals transmitted by feedback mechanisms from the peripheral parts of the PTA.     

East European lowland as an area of long-time interaction between Caucasoid and Mongoloid peoples

Most of the population of Eastern Europe inhabit an area of great anthropological interest, because of the contact between Caucasoid and Mongoloid anthropological types. We have analyzed normal variability in minisatellite and microsatellite loci in some East European population. Different synthetic maps were constructed using reliability theory to evaluate the degree of accuracy. Comparison of the synthetic maps for DNA with classical markers has revealed a high level of correlation. All the data obtained show the diverse influence of both anthropological types in forming the gene pool of the Eastern European peoples.     

Polymorphism of the angiotensin-converting enzyme gene in patients with coronary heart disease from Moscow population]

The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene was studied in patients with coronary heart disease (CHD) and healthy individuals randomly sampled from the Moscow population. The ACE gene proved to be associated with the plasma apolipoprotein B (ApoB) content in CHD patients, but not associated with HCD development in individuals with elevated serum cholesterol and triglycerides. An association was not revealed between the alleles of the ACE gene and hypertension in CHD patients.     

A Simple and Rapid Method for Detection of the 1069Gln Mutation in Wilson Disease

A simple and rapid method for detecting the 1069Gln mutation in gene ATP7B based on a PCR specific for this allele has been developed. The 1069Gln mutation is the main cause of Wilson disease (WD) in Russia and accounts for approximately 40% of all mutant alleles of gene ATP7B. Therefore, the method proposed makes the postnatal and prenatal diagnosis of Wilson disease in Russia considerably more rapid and less expensive.     

Polymorphisms in the MTHFR and MTR genes and the risk of varicose veins in ethnical Russians

Objectives: The objective of this study was to study the association of polymorphisms MTHFR C677T (rs1801133) and MTR A2756G (rs1805087) with the risk of varicose veins in ethnical Russians.

Methods: We genotyped 475 patients with varicose veins, 168 individual without chronic venous disease, and the population-based group of 896 subjects. Association was studied using logistic regression analysis adopting co-dominant, additive, recessive, and dominant models of inheritance.

Results: None of the polymorphisms showed a statistically significant association with the risk of varicose veins.

Conclusions: Our results provide evidence that the studied polymorphisms do not contribute to genetic susceptibility to varicose veins in ethnical Russians.     

Association of insulinase gene polymorphisms with type 2 diabetes mellitus in patients from the Moscow population

Association of 13 single nucleotide polymorphisms (SNPs) of insulinase (IDE) gene with type 2 diabetes mellitus (T2D) in the Moscow population has been examined. Three polymorphic markers (rs7078413, rs7899603, and rs551266) associated with the risk of T2D development have been revealed. Allele and genotype frequency distribution for these three markers differed significantly only in the sample of females between T2D patients and control individuals, while only in case of rs7078413 SNP genotype frequencies varied significantly in the total population.