Genetic predisposition for essential hypertension, based on studies of genetic polymorphisms in modern global human populations: The perspective of evolutionary biology

Gene Polymorphisms as Markers of Disease SusceptibilityThe most widespread diseases of modern man have a polygenic basis, including genetic predisposition and factors in the external environment. Such is the case with cardiovascular disease, malignancy, diabetes and so on. It should be borne in mind that risk factors usually include disorders that are themselves multifactorial, which further indicates the complexity of pathophysiological mechanisms. In the investigation of genetic factors in polygenic diseases studies are underway to determine the association with specific gene polymorphisms. Genetic or DNA polymorphisms are differences in the hereditary basis which are normally found in human populations. The human genome consists of 3×109nucleotide (base) pairs, and it is considered that, on average, every 1000th nucleotide is polymorphic, i.e. varies between two loci or two individuals. The most common type of gene polymorphisms is the single nucleotide polymorphism (SNP). Although gene polymorphisms are an expression of normal variations in the hereditary basis, their effect on the phenotype is interesting, especially the association with proneness to certain diseases. Association studies examine the incidence of certain genetic variants, i.e. genetic polymorphisms in a group of patients, and compare it with the data of a healthy population. The results are often contradictory, so the number of polymorphisms whose role as markers of genetic predisposition has been clearly confirmed is still small. In this paper we review literature data and present experiences from our laboratory in studying genetic polymorphisms as susceptibility factors for the occurrence of thrombophilia and atherosclerosis and its clinical manifestations.

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Genetic Predisposition to Essential Hypertension in Children: Analysis of 17 Single Nucleotide Polymorphisms

International Journal of Physiology and Pathophysiology ◽

10.1615/intjphyspathophys.v5.i4.40 ◽

2014 ◽

Vol 5 (4) ◽

pp. 307-322

Author(s):

Sergii V. Goncharov ◽

Veronika L. Gurianova ◽

Dmytro O. Stro ◽

Tatyana I. Drevytska ◽

Sergii P. Kaplinskii ◽

...

Keyword(s):

Essential Hypertension ◽

Single Nucleotide Polymorphisms ◽

Genetic Predisposition ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Hypertension In Children

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A Primer of Population Genetics and Genomics

10.1093/oso/9780198862291.001.0001 ◽

2020 ◽

Author(s):

Daniel L. Hartl

Keyword(s):

Population Genetics ◽

Complex Traits ◽

Evolutionary Biology ◽

Knowledge Retention ◽

Learning By Doing ◽

Human Populations ◽

Gene Drive ◽

Molecular Population Genetics ◽

Genetics And Genomics ◽

And Mathematics

A Primer of Population Genetics and Genomics, 4th edition, has been completely revised and updated to provide a concise but comprehensive introduction to the basic concepts of population genetics and genomics. Recent textbooks have tended to focus on such specialized topics as the coalescent, molecular evolution, human population genetics, or genomics. This primer bucks that trend by encouraging a broader familiarity with, and understanding of, population genetics and genomics as a whole. The overview ranges from mating systems through the causes of evolution, molecular population genetics, and the genomics of complex traits. Interwoven are discussions of ancient DNA, gene drive, landscape genetics, identifying risk factors for complex diseases, the genomics of adaptation and speciation, and other active areas of research. The principles are illuminated by numerous examples from a wide variety of animals, plants, microbes, and human populations. The approach also emphasizes learning by doing, which in this case means solving numerical or conceptual problems. The rationale behind this is that the use of concepts in problem-solving lead to deeper understanding and longer knowledge retention. This accessible, introductory textbook is aimed principally at students of various levels and abilities (from senior undergraduate to postgraduate) as well as practising scientists in the fields of population genetics, ecology, evolutionary biology, computational biology, bioinformatics, biostatistics, physics, and mathematics.

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Tu1256 Exploring the Association Between Genetic Polymorphisms and Swallowing Motor Cortex Excitability Induced by Repetitive Transcranial Magnetic Stimulation: Is Response Predicted by Genetic Predisposition?

Gastroenterology ◽

10.1016/s0016-5085(16)32898-0 ◽

2016 ◽

Vol 150 (4) ◽

pp. S859

Author(s):

Alicja Raginis-Zborowska ◽

Shaheen Hamdy ◽

Emilia Michou ◽

Neil Pendleton

Keyword(s):

Transcranial Magnetic Stimulation ◽

Motor Cortex ◽

Genetic Polymorphisms ◽

Genetic Predisposition ◽

Magnetic Stimulation ◽

Repetitive Transcranial Magnetic Stimulation ◽

Motor Cortex Excitability

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Comparison of Genotypic and Phenotypic Correlations: Cheverud’s Conjecture in Humans

10.1101/291062 ◽

2018 ◽

Author(s):

Sebastian M. Sodini ◽

Kathryn E. Kemper ◽

Naomi R. Wray ◽

Maciej Trzaskowski

Keyword(s):

Evolutionary Biology ◽

Genetic Correlations ◽

Accurate Estimation ◽

Human Populations ◽

Phenotypic Correlations ◽

Recent Developments ◽

Genotypic And Phenotypic Correlations ◽

Genetic And Phenotypic Correlations ◽

Selected Traits ◽

The Uk

AbstractAccurate estimation of genetic correlation requires large sample sizes and access to genetically informative data, which are not always available. Accordingly, phenotypic correlations are often assumed to reflect genotypic correlations in evolutionary biology. Cheverud’s conjecture asserts that the use of phenotypic correlations as proxies for genetic correlations is appropriate. Empirical evidence of the conjecture has been found across plant and animal species, with results suggesting that there is indeed a robust relationship between the two. Here, we investigate the conjecture in human populations, an analysis made possible by recent developments in availability of human genomic data and computing resources. A sample of 108,035 British European individuals from the UK Biobank was split equally into discovery and replication datasets. 17 traits were selected based on sample size, distribution and heritability. Genetic correlations were calculated using linkage disequilibrium score regression applied to the genome-wide association summary statistics of pairs of traits, and compared within and across datasets. Strong and significant correlations were found for the between-dataset comparison, suggesting that the genetic correlations from one independent sample were able to predict the phenotypic correlations from another independent sample within the same population. Designating the selected traits as morphological or non-morphological indicated little difference in correlation. The results of this study support the existence of a relationship between genetic and phenotypic correlations in humans. This finding is of specific interest in anthropological studies, which use measured phenotypic correlations to make inferences about the genetics of ancient human populations.

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A18263 Role of obesity and genetic polymorphisms in the development of left ventricular hypertrophy among children with essential hypertension

Journal of Hypertension ◽

10.1097/01.hjh.0000549054.00325.37 ◽

2018 ◽

Vol 36 ◽

pp. e258

Author(s):

Olga Samarina ◽

Olga Kovtun ◽

Alexander Chuykov

Keyword(s):

Essential Hypertension ◽

Left Ventricular Hypertrophy ◽

Genetic Polymorphisms ◽

Ventricular Hypertrophy ◽

Left Ventricular

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Human enhancement

Evolution Medicine and Public Health ◽

10.1093/emph/eoz026 ◽

2019 ◽

Vol 2019 (1) ◽

pp. 183-189 ◽

Cited By ~ 3

Author(s):

Mara Almeida ◽

Rui Diogo

Keyword(s):

Natural Environment ◽

Evolutionary Biology ◽

Human Enhancement ◽

Genetic Enhancement ◽

Human Biology ◽

Human Populations ◽

Genetic Intervention ◽

Biomedical Enhancement ◽

Open Questions ◽

Evolutionary Context

Abstract Genetic engineering opens new possibilities for biomedical enhancement requiring ethical, societal and practical considerations to evaluate its implications for human biology, human evolution and our natural environment. In this Commentary, we consider human enhancement, and in particular, we explore genetic enhancement in an evolutionary context. In summarizing key open questions, we highlight the importance of acknowledging multiple effects (pleiotropy) and complex epigenetic interactions among genotype, phenotype and ecology, and the need to consider the unit of impact not only to the human body but also to human populations and their natural environment (systems biology). We also propose that a practicable distinction between ‘therapy’ and ‘enhancement’ may need to be drawn and effectively implemented in future regulations. Overall, we suggest that it is essential for ethical, philosophical and policy discussions on human enhancement to consider the empirical evidence provided by evolutionary biology, developmental biology and other disciplines. Lay Summary: This Commentary explores genetic enhancement in an evolutionary context. We highlight the multiple effects associated with germline heritable genetic intervention, the need to consider the unit of impact to human populations and their natural environment, and propose that a practicable distinction between ‘therapy’ and ‘enhancement’ is needed.

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