Biobanking as a Necessary Tool for Research in the Field Of Personalized Medicine in the Scientific Medical Center

Pokrovskaya, M. S.; Копылова, О. В.; Ефимова, И. А.; Meshkov, Aleksey Nikolaevich; Metelskaya, V. A.; Шальнова, С. А.; Drapkina, О. М.

doi:10.2217/pme-2019-0049

Cited by 11 publications

(10 citation statements)

References 13 publications

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“…Additionally, (6) the available medical records of 10 patients with variants of interest in the ACMG59 genes observed at the Ivanovo Cardiology dispensary were analyzed. Blood samples for genetic analysis were stored at the Biobank of the National Medical Research Center for Therapy and Preventive Medicine (Moscow, Russia) (Pokrovskaya et al, 2019;Anisimov et al, 2021). Demographic characteristics, information about the most common non-communicable diseases, ECG parameters, and multiple blood biochemical parameters including lipid profiles are included into analysis.…”

Section: Selection Of Participants and Clinical Datamentioning

confidence: 99%

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

et al. 2021

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We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow. Approximately 11% of 11,876 detected variants were not found in the Single Nucleotide Polymorphism Database (dbSNP) or reported earlier in the Russian population. Most novel variants were singletons and doubletons in our sample, and virtually no novel alleles presumably specific for the Russian population were able to reach the frequencies above 0.1–0.2%. The overwhelming majority (99.3%) of variants detected in this study in three or more copies were shared with other populations. We found two dominant and seven recessive known pathogenic variants with allele frequencies significantly increased compared to those in the gnomAD non-Finnish Europeans. Of the 242 targeted genes, 28 were in the list of 59 genes for which the American College of Medical Genetics and Genomics (ACMG) recommended the reporting of incidental findings. Based on the number of variants detected in the sequenced subset of ACMG59 genes, we approximated the prevalence of known pathogenic and novel or rare protein-truncating variants in the complete set of ACMG59 genes in the Ivanovo population at 1.4 and 2.8%, respectively. We analyzed the available clinical data and observed the incomplete penetrance of known pathogenic variants in the 28 ACMG59 genes: only 1 individual out of 12 with such variants had the phenotype most likely related to the variant. When known pathogenic and novel or rare protein-truncating variants were considered together, the overall rate of confirmed phenotypes was about 19%, with maximum in the subset of novel protein-truncating variants. We report three novel protein truncating variants in APOB and one in MYH7 observed in individuals with hypobetalipoproteinemia and hypertrophic cardiomyopathy, respectively. Our results provide a valuable reference for the clinical interpretation of gene sequencing in Russian and other populations.

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Section: Selection Of Participants and Clinical Datamentioning

confidence: 99%

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

et al. 2021

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“…Кардиоваскулярная терапия и про филактика. 2021;20 (8):3119. doi:10.15829/1728880020213119 *Автор, ответственный за переписку (Corresponding author): email: sivoksana@yandex.ru Тел. : +7 (926) 1786358 [Копылова О.…”

Section: поступила 06/112021unclassified

“…Согласно стандарту, биобанкирование -это процесс получения и хранения данных, относящихся к сбору, пробоподготовке, сохранению, анализу и выдаче определенного биологического материала, а также сопутствующей информации о биообразцах [6,7]. Важно подчеркнуть, что научно-исследовательские биобанки являются большими коллекциями биологических материалов человека, сопровождающихся соответствующей личной и медицинской информацией, которая может включать медицинские записи и данные о семейном анамнезе, образе жизни, а также генетическую информацию, которые могут быть востребованы в научных исследованиях [8,9]. Ключевой фактор, отличающий биобанк от любого другого типа исследовательской коллекции, -это наличие установленных механизмов управления, позволяющих заинтересованным лицам иметь регламентированный доступ к ресурсам на систематической основе [10][11][12].…”

Section: Introductionunclassified

Management of biobanking for medical genetics research

Tabakov

2022

Cardiovasc Ther Prev

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Biobanking is one of the most important elements of the modern infrastructure for biomedical research. Organization of a biobank on the basis of the N. P. Bochkov Medical Genetics Research Center provides a centralized infrastructure for preparing biomaterial for research. Biobank has the format of a research equipment sharing center and works with two types of unique biomaterials from patients with genetic diseases: blood/blood components and vital cells of various tissue origin. The storage facility of the Biobank is equipped with low-temperature (-80° C) and cryostorage (-196° C) systems. Identification and search of samples is carried out using a bar-coding system and is implemented through the information interface of the biobank, which is integrated into the general database of patients at the Medical Genetics Research Center. Information on biomaterial samples is presented in periodically updated catalogs on the page of equipment sharing center “Biobank”. Biobank collection is available to internal and external users.

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“…Исследование базируется на данных наблюдательного исследования ЭССЕ-РФ (Эпидемиология сердечно-сосудистых заболеваний и их факторов риска в различных регионах Российской Федерации) [13] [14]. В сыворотке крови определяли уровни общего ХС (ОХС), ХС ЛНП, ХС липопротеинов высокой плотности (ЛВП), триглицеридов (ТГ), С-реактивного белка высокочувствительным методом (вчСРБ) мозгового натрийуретического пептида (Brain natriuretic peptide, BNP), мочевой кислоты (МК), креатинина с расчетом скорости клубочковой фильтрации (CКФ), определенной по формуле CKD-EPI (Chronic Kydney disease -Epidemiology Collaboratin).…”

Section: материал и методыunclassified

A pilot project to study troponin I in a representative sample of the region from the ESSE-RF study: distribution among population and associations with risk factors

Шальнова¹,

Драпкина²,

Концевая³

et al. 2021

Cardiovasc Ther Prev

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Aim. To assess the distribution of cardiac troponin I (cTnI) in a sample of the region from the ESSE-RF study and to study its associations with risk factors (RFs) and the Systematic Coronary Risk Evaluation (SCORE) system.Material and methods. This observational cross-sectional study includes a representative sample of the population aged 25-64 years of the Vologda region (n=1591). The analysis included sex, age, behavioral and cardiometabolic RFs, biomarkers, prior cardiovascular diseases (CVDs), and SCORE. The differences between age-sex groups were considered significant at p<0,05.Results. According to study results, asymmetry in cTnI distribution among population was revealed. The median cTnI level in the sample was 1,5 pg/ml (95% confidence interval, 0,80-2,50). Noteworthy is the high level of the 99th percentile of cTnI in men aged 45-54 years (55,3 pg/ml). At the same time, the 99th percentile for the entire sample in men was 47,7 pg/ml, while in women — 13,3 pg/ml. The cTnI level log increases significantly with age in both men (p<0,0001) and women (p<0,0001), but faster in men. There was a higher level of cTnI in young men compared to same-age women. In multivariate analysis, significant associations of cTnI levels with sex, age, blood low-density lipoprotein cholesterol, abdominal obesity, hypertension, and brain natriuretic peptide level were obtained. Insufficient accuracy of classification of study participants by SCORE risk was revealed.Conclusion. The distribution of cTnI in the sample of the Russian region from the ESSE-RF study is sharply shifted to the left (median, 1,5 pg/ml). Higher cTnI levels were revealed in young men compared to their female peers. Significant associations of cTnI with obesity (body mass index, hypertension, elevated low-density lipoprotein cholesterol, and brain natriuretic peptide concentration) were found. It was demonstrated that SCORE does not accurately classify individuals with high and moderate cТnI levels.

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Biobanking as a Necessary Tool for Research in the Field Of Personalized Medicine in the Scientific Medical Center

Cited by 11 publications

References 13 publications

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

Management of biobanking for medical genetics research

A pilot project to study troponin I in a representative sample of the region from the ESSE-RF study: distribution among population and associations with risk factors

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