According to modern classification, there are two forms of inherited ichthyoses: syndromic and non-syndromic, each of them consists of more than ten different nosologies. The commonest types of the ichthyosis are X-linked recessive (prevalence 1/2000–6000 in men) and autosomal dominant, or ichthyosis vulgaris with incomplete penetrance (1/250–1000). The X-linked form is associated with mutations in steroid sulfatase STS gene, it is noteworthy that there is a full deletion of the gene in 90% of cases. Ichthyosis vulgaris is caused by heterozygous mutations in the FLG gene encoding filaggrin. It is important to note that the clinical forms of these diseases are indistinguishable. The aim of this study was to search for pathogenic or likely pathogenic mutations which are associated with various forms of the inherited ichthyosis such as other inherited diseases with similar phenotypic signs. The sequencing was done on a HiSeq 4000 sequencer (Illumina) by paired-end reading (2 × 150 bp). The identified mutation p.Arg2037Ter in the heterozygous condition has been described before in databases as being pathogenic. Also, our patient has a full deletion of the STS gene and it was found that our patient carries two pathogenic mutations which are related to different forms of the inherited ichthyosis.

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We studied the dependence of climatotherapy effectiveness in patients with chronic heart failure (functional classes 0-II) on Ca(2+)-ATPase, phospholamban, beta1-adrenoceptor, and insulin-like growth factor 1 gene polymorphisms and possible interaction of these genes during the realization of the effect of climatotherapy. The effectiveness of climatotherapy depended on polymorphism of the studied genes; the maximum effect was attained in patients with the GG polymorphism of the Ca(2+)-ATPase gene, GT polymorphism of the phospholamban gene, ArgGly polymorphism of the beta1-adrenoceptor gene, and 19/19 polymorphism of the insulin-like growth factor 1 gene. We demonstrated additive interaction of Ca(2+)-ATPase and beta1-adrenoceptor genes during the realization of the cardiotonic effect of climatotherapy.

We used high density microarrays to investigate polymorphisms in more than 1500 genetic mark ers, associated with risks for a wide range of multifactorial diseases. We identified a set of 31 genes, whose products are associated with the risk of preeclampsia, based on the functional annotations of the genes in the bioinformatics resources, DAVID and GFINDer. We determined the population frequencies of alleles and genotypes for these 31 genes: ACE, , and VEGFA. Comparative analysis between the Russian and Central European study groups revealed statistically significant differences in the allelic and genotypic fre quencies for six genes: CYP2D6, CTLA4, AGT, NOS3, PON1 and ADRB2. The obtained data points to a sim ilar genetic basis for the risk of vascular diseases, associated with pregnancy, in the Russian and European populations, and these results can be used for further genetic and epidemiological studies.