Identification of the novel HLA-DQA1*05:107 allele.

Full length sequence characterisation of the novel HLA-DQA1*05:107 allele from whole genome sequencing data.

Transferability of the PRS estimates for height and BMI obtained from the European ethnic groups to the Western Russian populations.

Genetic data plays an increasingly important role in modern medicine. Decrease in the cost of sequencing with subsequent increase in imputation accuracy, and the accumulation of large amounts of high-quality genetic data enable the creation of polygenic risk scores (PRSs) to perform genotype-phenotype associations. The accuracy of phenotype prediction primarily depends on the overall trait heritability, Genome-wide association studies cohort size, and the similarity of genetic background between the base and the target cohort. Here we utilized 8,664 high coverage genomic samples collected across Russia by "Evogen", a Russian biomedical company, to evaluate the predictive power of PRSs based on summary statistics established on cohorts of European ancestry for basic phenotypic traits, namely height and BMI. We have demonstrated that the PRSs calculated for selected traits in three distinct Russian populations, recapitulate the predictive power from the original studies. This is evidence that GWAS summary statistics calculated on cohorts of European ancestry are transferable onto at least some ethnic groups in Russia.

Contents of mRNAs encoding endosome/lysosome components in normal human aorta and in stage II of atherogenesis: a hidden regulation.

Contents of mRNAs encoding endosome/lysosome components EEA1, Rab5a, Lamp1, Lamp2, p62 (SQSTM1), and CD63 were measured by quantitative PCR and compared in intact fragments of human aorta and in aorta fragments with atherosclerotic lesions of stage II (fatty streaks) of the same donors. During atherogenesis an increase was detected only in the level of p62 mRNA but not in other mRNAs. Nevertheless, correlation analysis revealed a profound rearrangement of inter-gene correlations: only 30% of correlations found in the fatty streaks coincided with the correlations in normal fragments. Thus, new constellations were formed in fatty streaks concurrently with disappearance of correlations between mRNAs under study and mRNAs encoding factors of lipid accumulation, reverse cholesterol transfer, and some lipid sensors/transcription regulators of lipid metabolism.

Location, identification, and size distribution of depleted uranium grains in reservoir sediments.

The location, nature, and size distribution of uranium-rich grains in sediment layers can be identified by sunbursts of etched particle tracks if each sample is pressed against a track detector, next irradiated with thermal neutrons, and the detectors then chemically etched to reveal fission tracks. The total track abundance from the sample is a measure of the 235U content; hence, if the bulk uranium (mostly 238U) has been measured, the two sets of results give the depletion or enrichment of the uranium. Sunbursts of tracks mark the locations of low-abundance, high-uranium grains allowing them to be singled out for further study.