Population specific analysis of Yakut exomes.

We studied the genetic diversity of the Yakut population using exome sequencing. We performed comparative analysis of the Yakut population and the populations that are included in the "1000 Genomes" project and we identified the alleles specific to the Yakut population. We showed, that the Yakuts population is a separate cluster between Europeans and East Asians.

[FREQUENCY OF OCCURRENCE OF POLYMORPHIC VARIANTS OF IL28B GENE AND GENOTYPES OF HEPATITIS C VIRUS IN POPULATION OF YAKUTIA: CLINICAL OUTCOMES].

AIM: Study clinical outcomes in patients with chronic hepatitis C depending on genotype of hepatitis C virus (HCV) and IL28B gene polymorphism. MATERIALS AND METHODS: 592 indi- viduals Were examined, 75 ofthosehad HCVRNAgenotypes determined by PCR. Genotyping of single nucleotide polymorphisms (SNP) - rs12979860 (C/T) and rs8099917 (T/G) in IL28B gene was carried out by real-time PCR. RESULTS: HCV RNA was detected in 72 examined residents of Yakutia. HCV lb genotype was determined in 74.2% of cases, 3a - in 11.4%, la and 2 - 5.7% each. Frequency of polymorph variant rs12979860 CC was 72.2%, CT - 27.8%, rs8099917 TT - 61.1%, TG - 23.2%. CONCLUSION: Combination of HCV lb with polymorphic variants of IL28B'gene rs12979860 CC and rs8099917 CT showed a less aggressive course of the disease. On the other hand, HCV infection of individuals with geno- type 3a and polymorphism rs12979860 CC or rs809917 TT of IL28B gene showed a more severe clinical presentation. The presence ofpolyorirphvariants rs8099917 T/G and rs12979860 C/T showed more severe clinical outcomes of HCV infection (viral load up to 19035212 copies, cirrhosis with ascite, hepatocarcinoma).

Evaluating association and transmission of eight inflammatory genes with Viliuisk encephalomyelitis susceptibility.

Since the discovery of Viliuisk encephalomyelitis (VE) in 1887, scientists have tried to understand the natural history and aetiology of this endemic neurological disorder among the native Sakha population of Central Siberia. Familial aggregation and segregation analysis suggested a genetic influence on VE incidence. However, recent studies have implicated an unknown virus, possibly from the alpha herpesvirus family, as a possible cause for this disease. As VE is a neurological disease characterized by the inflammatory reactions systematically observed in the spinocerebellar fluid and in the brain tissue of deceased patients, we examined 17 single nucleotide polymorphisms (SNPs) across seven inflammation-related candidate gene regions, including chemokine receptors type 2 and 5 (CCR2/CCR5), interferon-gamma (IFN-gamma), interleukin-4 (IL-4), IL-6, IL-10, stromal cell-derived factor (SDF) and chemokine regulated upon activation, normal T-cell expressed and presumably secreted (RANTES). Our main objective was to analyse the degree of genetic association between VE and candidate genes that have been previously implicated in other inflammatory diseases. Samples were collected from 83 affected families comprising 88 verified VE cases, 156 family members, and an additional 69 unrelated, unaffected inhabitants of the same geographical area. This collection included substantially all of the cases that are currently on the VE Registry. The experimental design included both case-control and transmission/disequilibrium test (TDT)-based familial association analyses. None of 17 SNPs analysed was significantly associated with VE occurrence. Exclusion of these eight genes based on the lack of association has important implications for identifying the disease agent, as well as prescribing therapy and understanding Viliuisk encephalomyelitis.