Bio-resources for sharing: which communities and what specific needs

Biobanks are an important source to obtain samples and data for research purposes for a wide array of communities. In fact, sharing of bio-resources and data is an integral part of a biobank's role. For an effective partnership a list of requirements or needs have to be met, assuring quality of the resources shared as well as quality of the collaboration in general. Tracking and documenting bio-resource sharing and collaborations of a biobank can be seen as one indicator of the "impact" a biobank has to the field. As an example, the practice of the Estonian Genome Center of the University of Tartu is presented

Eesti geenivaramust personaalse meditsiinini –20 aastat!

Eesti Arst 2021; 100(5):280–286 &nbsp

Locations of several novel 2'-O-methylated nucleotides in human 28S rRNA

BACKGROUND: Ribose 2'-O-methylation, the most common nucleotide modification in mammalian rRNA, is directed by the C/D box small nucleolar RNAs (snoRNAs). Thus far, more than fifty putative human rRNA methylation guide snoRNAs have been identified. For nine of these snoRNAs, the respective ribose methylations in human 28S rRNA have been only presumptive. RESULTS: In this study, the methylation state of human 28S rRNA in the positions predicted by the snoRNAs U21, U26, U31, U48, U50, U73, U74, U80 and U81 was assessed using reverse transcription-based methods and several novel 2'-O-methylations were localized. CONCLUSIONS: Seven novel ribose 2'-O-methylated residues (Am389, Am391, Gm1604, Gm1739, Gm2853, Cm3810, Gm4156, predicted by snoRNAs U26, U81, U80, U73, U50, U74 and U31, respectively) have been localized in human 28S rRNA. The total number of 2'-O-methylations in human rRNA is not yet known

A bovine papillomavirus-1 based vector restores the function of the low-density lipoprotein receptor in the receptor-deficient CHO-ldlA7 cell line

BACKGROUND: The rationale of using bovine papillomavirus-1 (BPV-1) derived vectors in gene therapy protocols lies in their episomal maintenance at intermediate to high copy number, and stable, high-level expression of the gene products. We constructed the BPV-1 based vector harbouring the human low-density lipoprotein receptor (LDLR) gene cDNA and tested its ability to restore the function of the LDLR in the receptor-deficient cell line CHO-ldlA7. RESULTS: The introduced vector p3.7LDL produced functionally active LDL receptors in the receptor-deficient cell line CHO-ldlA7 during the 32-week period of observation as determined by the internalisation assay with the labelled LDL particles. CONCLUSION: Bovine papillomavirus type-1 (BPV-1)-derived vectors could be suitable for gene therapy due to their episomal maintenance at intermediate to high copy number and stable, high-level expression of the gene products. The constructed BPV-1 based vector p3.7LDL produced functionally active LDL receptors in the LDLR-deficient cell line CHO-ldlA7 during the 32-week period of observation. In vivo experiments should reveal, whether 1–5% transfection efficiency obtained in the current work is sufficient to bring about detectable and clinically significant lowering of the amount of circulating LDL cholesterol particles

Seljaajusong ja hüdrotsefaalia: üldine ülevaade ning 30 aastat registriandmete kogumist Eestis

Seljaajusong ja hüdrotsefaalia on kesknärvisüsteemi arenguhäired, mis tekivad lootel varajase embrüonaalse arengu käigus. Haiguste summaarne esinemissagedus on üle maailma keskmiselt 1–2 juhtu 1000 elussünni kohta. Teadaolevalt on neuraaltorudefektidel valdavalt mitmeteguriline etioloogia, hõlmates nii geneetilisi variante kui ka keskkonnategureid. 1985. aastal Tallinna Lastehaigla lastekirurgia osakonna baasil loodud Eesti Seljaajusonga ja Vesipeahaigete Seltsi register on võimaldanud saada ülevaate Eesti neuraaltorudefektidega patsientidest. 2017. aasta alguse seisuga oli Eestis elus 127 seljaajusonga ja 234 hüdrotsefaaliaga haiget ning viimase 30 aasta registriandmete põhjal on leitud vastavad sünniprevalentsid. Siiani kogutud andmete analüüsimise ja eelkõige geneetiliste uuringutega sidumise põhjal tuleb rõhutada foolhappe profülaktilise tarvitamise vajadust. Registriandmed on aidanud laiendada ka teadmisi haigustega kaasnevatest probleemidest ning suunata tähelepanu lapseeast täiskasvanuteks sirgunud haigete ravivõimaluste parendamise vajadusele. Lisaks uutele teadmistele neuraaltorudefektide olukorrast Eestis on oluline laiendada teadmisi nende harvikhaiguste suhtes ka rahvusvahelistes uuringutes

Mendelian Randomization Identifies the Potential Causal Impact of Dietary Patterns on Circulating Blood Metabolites

Nutrition plays an important role in the development and progress of several health conditions, but the exact mechanism is often still unclear. Blood metabolites are likely candidates to be mediating these relationships, as their levels are strongly dependent on the frequency of consumption of several foods/drinks. Understanding the causal effect of food on metabolites is thus of extreme importance. To establish these effects, we utilized two-sample Mendelian randomization using the genetic variants associated with dietary traits as instrumental variables. The estimates of single-nucleotide polymorphisms’ effects on exposures were obtained from a recent genome-wide association study (GWAS) of 25 individual and 15 principal-component dietary traits, whereas the ones for outcomes were obtained from a GWAS of 123 blood metabolites measured by nuclear magnetic resonance spectroscopy. We identified 413 potentially causal links between food and metabolites, replicating previous findings, such as the association between increased oily fish consumption and higher DHA, and highlighting several novel associations. Most of the associations were related to very-low-density, intermediate-density (IDL), and low-density lipoproteins (LDL). For example, we found that constituents of IDL particles and large LDL particles were raised by coffee and alcohol while lowered by an overall healthier diet and fruit consumption. Our findings provide a strong base of evidence for planning future RCTs aimed at understanding the role of diet in determining blood metabolite levels

Editorial : Can population health be personalized? Estonia and Finland as examples

Non peer reviewe

The role of the five-factor personality traits in general self-rated health

Self-ratings of health (SRH) are widely used in large surveys and have been shown to predict mortality over and above more objective health measures. However, the debate still continues about what SRH actually represents and what the processes underlying people's assessments of their health are. The main aim of this study is to examine the role of the Five-Factor Model personality traits in general SRH assessment while controlling for the effects of objective health indicators, health-related quality of life and subjective well-being in a large population-based dataset of Estonian adults. A hierarchical linear regression analysis showed that only self-rated, but not informant-rated, neuroticism explained additional variance in SRH when the other aforementioned variables were taken into account. Our findings indicate that people's general SRH is a relatively good reflection of their objectively measured health status, but also that the way in which people experience and evaluate the quality of their lives—both in terms of subjective well-being and more specific aspects of health—plays a significant role in general SRH assessments