Background. Management of intracranial arterial aneurysms remains one of the most important problems of the vascular neurosurgery because of high morbidity and mortality rate. According to recent data, the prevalence of Intracranial Aneurysms (IA) is much higher, than was thought before. Etiology and pathogenesis of IA remains obscure. Such recognized factors as arterial hypertension, age and smoking cannot fully explain aneurysm formation and clinical course. Increasing evidence of familial aneurysms and high incidence of IA in such families and in patients with congenital connective tissue disease together with modern possibilities in genetic studies led to investigations of the genetic origin of IA. The Aim of the study was to summaries what is presently known about genetics of IA. Results. Analysis of the literature showed an increase in the number of publications and volumes of testing data in the study of genetic factors in the etiology of aneurysms. More than 20 loci and genes, associated with IA, are identified. Some of them are confirmed in independent investigations. Loci with a high degree of reliability are registered in OMIM. Genetic heterogeneity in different population groups is shown. Attempts are made to link identified genetic changes with the clinical course of IA. Further studies are needed to find IA susceptibility genes and there interaction with known risk factors, that will in future lead to new therapeutic opportunities.

Loss of heterozygosity on chromosome 10q is the most frequent genetic alteration in glioblastoma and occurs in up to 80% of cases. Using microsatellite analysis we have determined the frequency of loss of heterozygosity in the 10q23.3-26.3 chromosome region, containing candidate genes PTEN , FGFR2, MKI67 and MGMT , in 124 samples of glioblastoma. Frequency of loss of heterozygosity at the region under investigation equals 62.1%. We have used quantitative microsatellite analysis to establish a quantitative change of copy number of the 10q23.3-26.3 in 64 samples of glioblastoma with identified loss of heterozygosity in 10q23.3-26.3 area. In 37,5% of the samples only one copy of 10q23.3-26.3 chromosome region was found (deletion), in 25,0% two copies were detected (acquired uniparental disomy,). In 37,5% (24/64) of the samples areas of alternation of deletion and acquired uniparental disomy throughout the tested region were identified. Higher frequencies of deletions were characteristic for the proximal part of 10q23.3-26.3 region (PTEN and FGFR2 genes), while acquired uniparental disomy and deletion were equally in the distal part (MGMT gene).

It is known that the deficiency of inhibition, disruption of the glutamatergic system functioning play one of the central roles of the schizophrenia pathogenesis. The analysis of associations of polymorphic loci rs274622, rs187993, rs6465084 GRM3 gene and rs928197, rs2236418 GAD2 gene with the schizophrenia predisposition of Russians and Tatars from Bashkortostan was presented in the current study. It was revealed that the GRM3*G/G genotype (p = 0,002; OR = 2,52) and the GRM3*G allele (p = 0,000002; OR = 2,13) of rs187993 polymorphic variant GRM3 gene and the GAD2*T allele (p = 0,01; OR = 1,58) polymorphic locus rs928197 GAD2 gene predispose to the schizophrenia in Russians. While the GRM3*A/A genotype (p = 0,000000019; OR = 4,17) and the GRM3*A (p = 0,0000000084; OR = 2,90) polymorphic locus rs6465084 GRM3 gene; the genotype GAD2 * A/A (p = 0,0001; OR = 2,68) and allele GAD2*A (p = 0,000004; OR = 2,11) locus rs2236418 GAD2 gene and haplotype GAD2*AT (p = 0,0001; OR = 2,15) are risk markers of schizophrenia in Tatars.

The study included patients with chronic viral hepatitis C (chronic HCV) (n = 184) and a population-based sample of Tomsk residents (n = 285). Genotyping of 58 polymorphic variants was performed using mass spectrometry on the Sequenom MassARRAY ® (USA). Statistical data processing was carried out in the software environment R. Patients with chronic HCV have higher frequency of ‘A’ allele of the MMP3 gene variant rs650108 (OR = 1,74, 95%CI: 1,25-2,42; p = 0,0001), and ‘C’ allele of the KIAA1462 gene variant rs3739998 (OR = 1,33, 95%CI: 1,01-1,75; p = 0,044) and a lower frequency of ‘T’ allele of the LIG1 gene variant rs20579 (OR = 0,55, 95%CI: 0,36-0,84; p = 0,004), ‘G’ allele of the ADAMDEC1 gene variant rs3765124 (OR = 0,68, 95%CI: 0,51-0,84; p = 0,006) and ‘C’ allele of the ITGB5 gene variant rs1007856 (OR = 0,75, 95%CI: 0,57-0,99; p = 0,045) compared with the controls. The following genotypes are predisposing to the development of chronic HCV: ‘CC’ of the rs10087305 variant (OR = 5,83, 95%CI: 1,74-19,02; p = 0,002) and ‘AA’ of the rs3765124 variant (OR = 1,78, 95%CI: 1,16-8,46; p = 0,008) of the ADAMDEC1 gene; ‘AA’ of the MMP3 gene variant rs679620 (OR = 2,40, 95%CI: 1,40-4,12; p = 0,001); ‘TT’ of the ITGB5 gene variant rs1007856 (OR = 1,74, 95%CI: 1,10-2,73; р = 0,015); ‘CC’ of the LIG1 gene variant rs20579 (OR = 1,92, 95%CI: 1,18-3,12; p = 0,007); ‘CC’ of the KIAA1462 gene variant rs3739998 (OR = 1,89, 95%CI: 1,16-3,10; p = 0,009). Therefore, in susceptibility to chronic HCV contribute genes of extracellular matrix metabolism regulation ( ADAMDEC1; MMP3; ITGB5 ), directly affecting the processes of fibrogenesis, as well as genes responsible for the endothelial function ( KIAA1462 ) and DNA repair ( LIG1 ).

Lipidoses is a group of inherited lysosomal diseases, characterized by accumulation of complex lipids in the tissues. The aim of this study was to evaluate the levels of oxysterols: cholestan-3b,5a,6b-triol (C-triol) and 7-ketocholesterol (7-KC) at four lysosomal diseases from the lipidoses group and in heterozygous carriers of Niemann-Pick (NP) type C and Niemann-Pick type A/B diseases. Increased levels of cholestan-3b,5a,6b-triol were found at NP-C, NP-A/B, and deficiency of lysosomal acid lipase (LAL-D). The level of C-triol was not increased in Gousher’s syndrome patients. An increased average concentration of cholestan-3b,5a,6b-triol was also revealed in heterozygous carriers of Niemann-Pick type C disease. A diagnostically significant cholestan-3b,5a,6b-triol/7-ketocholesterol ratio was proposed that can improve laboratory differential diagnostics of these diseases. The oxysterol assay can be used as a biochemical technique for selective screening of the risk groups for these diseases.