Population genetic characteristics and genetic epidemiological research of candidate genes associations with multifactorial diseases

The general population genetic characteristics of cultivated horse chestnut trees excelling in growth, phenotype characteristics, type of inflorescence, productivity and resistance to the leafminer Cameraria ohridella Deschka and Dimic were analyzed in Serbia. The analyzed population genetic parameters point to fundamental differences in the genetic structure among the cultivated populations in Serbia. The study shows the variability in all properties among the populations and inter-individual variability within the populations. The variability and differential characteristics were assessed using statistical parameters, taking into account the satisfactory reflection of the hereditary potential. The assessed differences in the vitality and evolution potential of different populations can determine the methods of horse chestnut gene pool collection, reconstruction and improvement.

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Candidate genes associated with athletes' skeletal muscle functions regulation

Personalized Psychiatry and Neurology ◽

10.52667/2712-9179-2021-1-2-83-94 ◽

2021 ◽

Vol 1 (2) ◽

pp. 83-94

Author(s):

O. V. Balberova ◽

E. V. Bykov ◽

G. V. Medvedev

Keyword(s):

Candidate Genes ◽

Skeletal Muscles ◽

Sports Injuries ◽

Single Nucleotide Variants ◽

Single Nucleotide ◽

Genetic Characteristics ◽

Endurance Strength ◽

Personalized Approach ◽

And Function ◽

Genetically Determined

It is generally recognized that an elite athlete's status is a multifactorial phenotype depending on many environmental and genetic factors. Variations in the sequence of nucleotides in deoxyribonucleic acid (DNA), in particular, single-nucleotide variants (SNVs) act as key internal factors associated with achieving high results in sports. The determination of specific individuals' genetic characteristics allows us to identify athletes who have the greatest genetically determined potential for certain sports that require speed, strength or endurance manifestation. Of course, peculiarities of the structure and function of skeletal muscles are among the most important characteristics in sports results context, in sports associated with the development of power / strength or endurance phenotypes. The composition and function of skeletal muscles are controlled by many different genes, and their SNVs can serve as strength or endurance athletes' status biomarkers. (1) Background: to conduct a thematic review of candidate genes studies and their single-nucleotide variants (SNVs) associated with the functioning of skeletal muscles in athletes. (2) Methods: A search for articles for the period from 2010 to 2020 was conducted in the databases SCOPUS, Web of Science, Google Calendar, Clinical keys, PubMed, e-LIBRARY using keywords and their combinations; (3) Conclusions: The identification of genetic biomarkers associated with muscular system regulation can help neurologists, sports doctors and coaches in developing personalized strategies for selecting children, adolescents and young adults for endurance, strength and speed sports (for example, running short, medium or long distances). Such a personalized approach will increase sports performance and reduce the risk of sports injuries of the musculoskeletal system.

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Endogamy, the intensity of assortative intra-ethnic marriage of ossets (the end of ХХ century)

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2019.05.51-53 ◽

2019 ◽

pp. 51-53

Author(s):

Г.И. Ельчинова ◽

З.К. Гетоева ◽

В.В. Кадышев ◽

М.Ю. Джаджиева ◽

Р.А. Зинченко

Keyword(s):

Epidemiological Study ◽

Population Genetic ◽

Medical Genetics ◽

Research Centre ◽

Standard Protocol ◽

Genetic Characteristics ◽

The North ◽

And Migration ◽

North Ossetia ◽

Endogamy Index

Генетико-эпидемиологическое обследование населения республики Северная Осетия-Алания проводится сотрудниками лаборатории генетической эпидемиологии ФГБНУ «МГНЦ». В рамках стандартного протокола исследования проводится изучение максимально возможного числа популяционно-генетических характеристик. На основании 27583 брачных записей проанализированы индекс эндогамии, интенсивность метисации и этническая брачная ассортативность в 8 районах Северной Осетии и г. Владикавказе. Выявлены различия этих брачно-миграционных характеристик между двумя субэтносами - иронцами и дигорцами. Дигорцы характеризуются более высокой эндогамностью и более низкой метисацией, чем иронцы. Genetic epidemiological study of the population of the North Ossetia-Alania Republic, Russia, is caring out by the Laboratory of Genetiс Epidemiology of Research Centre for Medical Genetics (Moscow, Russia).Within the framework of the standard protocol we study the maximum of possible population-genetic characteristics. Based on the 27583 marriage records, the index of endogamy, the intensity of metisation and ethnic marriage assortativness in 8 regions of North Ossetia and Vladikavkaz have been analyzed. The differences in the marriage and migration characteristics are revealed for two subethnoses: the Irons and the Digors. The Digors have a higher value of endogamy index and a lower metisation level than the Irons have.

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Risk estimation for multifactorial diseases

Annals of the ICRP ◽

10.1016/s0146-6453(00)00040-3 ◽

1999 ◽

Vol 29 (3-4) ◽

pp. 1-2 ◽

Cited By ~ 7

Keyword(s):

Diabetes Mellitus ◽

Coronary Heart Disease ◽

Population Genetic ◽

Threshold Model ◽

Genetic Models ◽

Multifactorial Disease ◽

Induced Mutations ◽

Multifactorial Diseases ◽

Radiation Induced ◽

The Impact

This report reviews data on naturally-occurring multifactorial diseases and develops a mathematical model to predict the impact of radiation-induced mutations on the frequencies of these diseases in the population. It provides an outline of the aetiological features and examples of multifactorial diseases, interpreted to arise as a result of the joint action of genetic and environmental factors. Examples include common congenital abnormalities (such as neural tube defects, cardiovascular malformations, cleft lip±palate etc.) and chronic diseases (such as coronary heart disease, essential hypertension, diabetes mellitus etc.). These diseases are not readily explained on the basis of simple mendelian patterns of inheritance. The report considers the concepts and models used to explain the inheritance patterns of multifactorial diseases with particular emphasis on the multifactorial threshold model (MTM) of disease liability. The MTM is useful for predicting risk to relatives of those affected from information on their population frequencies. In these predictions, the heritability ( h2) provides a measure of the relative importance of transmissible genetic effects in the overall phenotypic variation. Conceptual differences between mendelian and multifactorial diseases are discussed. The genetic basis of a multifactorial disease is that a genetically susceptible individual may or may not develop the disease depending on the interaction of a number of risk factors, both genetic and environmental. Three chronic multifactorial disease entities are reviewed in depth, viz. diabetes mellitus, essential hypertension, and coronary heart disease. The report considers briefly mechanistic population genetic models developed to explain polygenic variation. The basic conclusion is that the concepts of liability and threshold (underlying the MTM model) and that of mutation-selection balance (from population genetic models) together provide a basis for developing a model for assessing the impact of radiation-induced mutations on the frequencies of multifactorial diseases in the population. The mutation component (MC) of genetic diseases quantifies the responsiveness of the genetic component of a disease to an increase in mutation rate (e.g. after radiation exposure). This report integrates the concepts of liability and threshold (from the MTM model) and of mutation-selection equilibrium (from mechanistic population genetic models) into the ‘Finite Locus Threshold Model’ (FLTM) for estimating MC for multifactorial diseases and the relationship between MC and h 2 of these diseases. Computer simulation studies illustrate the effects of one-time or a permanent increase in mutation rate on MC for multifactorial diseases. Finally, the report addresses the estimation of the radiation risk of multifactorial diseases. A formal revision of the estimates of risk of multifactorial diseases (and also of mendelian diseases) contained in the 1990 Recommendations of ICRP, Publication 60, must await the results of studies currently underway. While future genetic risk estimates are likely to be lower than those in current use, until the new ones become available, those provided in Publication 60 may be regarded as being adequate for use in radiological protection- they are unlikely to underestimate risk.

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GENETICS OF PHOBIC DISORDERS

Psychology and Personality ◽

10.33989/2226-4078.2021.2.239990 ◽

2021 ◽

pp. 245-256

Author(s):

V. Pomohaibo ◽

O. Berezan ◽

A. Petrushov

Keyword(s):

Candidate Genes ◽

Association Studies ◽

Meta Analysis ◽

Molecular Genetic ◽

Genome Wide Association Studies ◽

Potential Candidate ◽

Social Phobias ◽

Phobic Disorders ◽

Multifactorial Diseases ◽

Statistical Validity

At present time, on the basis of genome-wide association studies (GWAS), several authors found linkage of phobic disorders with certain regions of chromosomes – 3q26 (agoraphobia), 14q13 (specific phobias), 16q21 (social phobias), 16q22 (social phobias) and 4q31-q34 (phobic disorders). We propose 19 genes that are localized in these regions and are expressed in the brain: PRKCI, CLDN11, EIF5A2, TNIK, CLCN3, CPE, GLRB, GRIA2, NEK1, NPY2R, NPY5R, RAPGEF2, TRIM2, SMAD1, ADGRG1, BEAN1, CDH8, DOK4 and KATNB1. Therefore, these genes may be investigated as candidate genes of phobic disorders. Various sources propose 26 potential candidate genes of phobic disorders. Finnish geneticist J. Donner carries out a meta-analysis to study the 8 most probable among them and corroborates statistical validity only for 4 genes: ALAD, CDH2, EPB41L4A and GAD1. First three genes are involved in the social phobias, and fourth is involved in whole phobic disorders. Phobias are heterogeneous and multifactorial diseases. To understand the biological mechanisms of such disorders, to create effective methods for their prevention and treatment, there are needed further intensive molecular genetic studies of these disorders on sufficiently large samples and corroborating these results by other authors.

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Population structure and geographic segregation of Cryptosporidium parvum IId subtypes in cattle in China

10.21203/rs.3.rs-23848/v3 ◽

2020 ◽

Author(s):

Zhenjie Zhang ◽

Suhui Hu ◽

Wentao Zhao ◽

Yaqiong Guo ◽

Na Li ◽

...

Keyword(s):

Genetic Diversity ◽

Population Structure ◽

Sequence Analysis ◽

Cryptosporidium Parvum ◽

Population Genetic ◽

Principal Component ◽

Farm Animals ◽

Industrialized Countries ◽

Genetic Characteristics ◽

Distance Analysis

Abstract Background: Cryptosporidium parvum is a zoonotic pathogen worldwide. Extensive genetic diversity and complex population structures exist in C. parvum in different geographic regions and hosts. Unlike the IIa subtype family, which is responsible for most zoonotic C. parvum infections in industrialized countries, IId is identified as the dominant subtype family in farm animals, rodents, and humans in China. Thus far, the population genetic characteristics of IId subtypes in calves in China are not clear. Methods: In the present study, 46 C. parvum isolates from dairy and beef cattle in six provinces and regions, China were characterized using sequence analysis of eight genetic loci, including msc6-7 , rpgr , msc6-5 , dz-hrgp , chom3t , hsp70 , mucin1 , and gp60 . They belonged to three IId subtypes in the gp60 gene, including IIdA20G1 (n = 17), IIdA19G1 (n = 24) and IIdA15G1 (n = 5). The data generated were analyzed for population genetic structures of C. parvum using DnaSP and LIAN, and subpopulation structures using STRUCTURE, RAxML, Arlequin, GENALEX and Network. Results: Seventeen multilocus genotypes were identified. The results of linkage disequilibrium analysis indicated the presence of an epidemic genetic structure in the C. parvum IId population. When isolates of various geographical areas were treated as individual subpopulations, maximum likelihood inference of phylogeny, pairwise genetic distance analysis, sub-structure analysis, principal component analysis and network analysis all provided evidence for geographic segregation of subpopulations in Heilongjiang, Hebei, and Xinjiang. In contrast, isolates from Guangdong, Shanghai, and Jiangsu were genetically like each other. Conclusions: Data from the multilocus analysis have revealed a much higher genetic diversity of C. parvum than gp60 sequence analysis. Despite an epidemic population structure, there is apparent geographic segregation in C. parvum subpopulations within China.

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Spatial connectivity pattern of expanding gilthead seabream populations and its interactions with aquaculture sites: a combined population genetic and physical modelling approach

Scientific Reports ◽

10.1038/s41598-019-51256-z ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 6

Author(s):

Iva Žužul ◽

Tanja Šegvić-Bubić ◽

Igor Talijančić ◽

Tomislav Džoić ◽

Ivana Lepen Pleić ◽

...

Keyword(s):

Population Genetic ◽

Adriatic Sea ◽

Physical Modelling ◽

Connectivity Pattern ◽

Gilthead Seabream ◽

Geographic Scale ◽

Genetic Characteristics ◽

Study Results ◽

Sea Cage ◽

Scale Detection

Abstract In gilthead seabream the number of domesticated individuals increased annually, and escape events occur regularly in the Adriatic Sea. Still there is a lack of population genetic characteristics and evidence of the extent and geographic scale of interbreeding resulting from fish-farm escapees. We screened 1586 individuals using a panel of 21 neutral microsatellite loci in several consecutive years and here report on the medium-scale detection of hybrid and farmed seabream in the natural environment. Wild adults showed a lack of genetic structure within basin and sampling years and reduced connectivity with wild offspring collection, suggesting their temporal residency within the Adriatic. On the contrary, by linking the results of multiannual genetic analyses with the results of coupled hydrodynamic and individual based models (IBM-Ichthyop), we observed a strong connection of wild seabream associated with tuna-aquaculture sites and offspring from the nursery grounds, indicating that the surroundings of tuna sea-cage farms can function as a spawning grounds. The study results present the genetic baseline of wild and farmed strains from the eastern Adriatic Sea, as a first step toward development of a mitigation strategy for fish escapees aimed at controlling further erosion of genetic integrity.

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POPULATION-GENETIC CHARACTERISTICS OF DOMESTIC REINDEER OF YAKUTIA BASED ON WHOLE-GENOME SNP ANALYSIS

Sel skokhozyaistvennaya Biologiya ◽

10.15389/agrobiology.2017.4.669eng ◽

2017 ◽

Vol 52 (4) ◽

pp. 669-678

Author(s):

V.R. Kharzinova ◽

◽

A.V. Dotsev ◽

A.D. Solovieva ◽

V.I. Fedorov ◽

...

Keyword(s):

Population Genetic ◽

Snp Analysis ◽

Whole Genome ◽

Genetic Characteristics

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Population structure and geographical segregation of Cryptosporidium parvum IId subtypes in cattle in China

10.21203/rs.3.rs-23848/v4 ◽

2020 ◽

Author(s):

Zhenjie Zhang ◽

Suhui Hu ◽

Wentao Zhao ◽

Yaqiong Guo ◽

Na Li ◽

...

Keyword(s):

Genetic Diversity ◽

Population Structure ◽

Sequence Analysis ◽

Cryptosporidium Parvum ◽

Population Genetic ◽

Farm Animals ◽

Industrialized Countries ◽

Genetic Characteristics ◽

Distance Analysis ◽

Geographical Regions

Abstract Background: Cryptosporidium parvum is a zoonotic pathogen worldwide. Extensive genetic diversity and complex population structures exist in C. parvum in different geographical regions and hosts. Unlike the IIa subtype family, which is responsible for most zoonotic C. parvum infections in industrialized countries, IId is identified as the dominant subtype family in farm animals, rodents and humans in China. Thus far, the population genetic characteristics of IId subtypes in calves in China are not clear.Methods: In the present study, 46 C. parvum isolates from dairy and beef cattle in six provinces and regions in China were characterized using sequence analysis of eight genetic loci, including msc6-7, rpgr, msc6-5, dz-hrgp, chom3t, hsp70, mucin1 and gp60. They belonged to three IId subtypes in the gp60 gene, including IIdA20G1 (n = 17), IIdA19G1 (n = 24) and IIdA15G1 (n = 5). The data generated were analyzed for population genetic structures of C. parvum using DnaSP and LIAN and subpopulation structures using STRUCTURE, RAxML, Arlequin, GENALEX and Network.Results: Seventeen multilocus genotypes were identified. The results of linkage disequilibrium analysis indicated the presence of an epidemic genetic structure in the C. parvum IId population. When isolates of various geographical areas were treated as individual subpopulations, maximum likelihood inference of phylogeny, pairwise genetic distance analysis, substructure analysis, principal components analysis and network analysis all provided evidence for geographical segregation of subpopulations in Heilongjiang, Hebei and Xinjiang. In contrast, isolates from Guangdong, Shanghai and Jiangsu were genetically similar to each other.Conclusions: Data from the multilocus analysis have revealed a much higher genetic diversity of C. parvum than gp60 sequence analysis. Despite an epidemic population structure, there is an apparent geographical segregation in C. parvum subpopulations within China.

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Population-genetic characteristics in managing breeding process of a herd at APC Prisukhonskoye In the Vologda oblast

10.15838/alt.2018.2.2.3 ◽

2018 ◽

Cited By ~ 2

Author(s):

Aleksandr Konovalov ◽

Anna Ilyina ◽

Marina Abramova ◽

Nikolay Kosyachenko ◽

Tatyana Grigorieva

Keyword(s):

Population Genetic ◽

Genetic Characteristics ◽

Vologda Oblast

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