scholarly journals Finding genetic factors associated with cognitive abilities

2021 ◽  
pp. 29-34
Author(s):  
Valentyn Pomohaibo ◽  
Natalia Karapuzova ◽  
Yuliia Pavlenko
Keyword(s):  
Cognitive Ability ◽  
Cognitive Abilities ◽  
Genetic Factors ◽  
Human Genetics ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Prenatal Development ◽  
Nucleotide Polymorphisms ◽  
Factors Associated ◽  
Functional Regions

The article provides an overview of the results of modern genetic studies of human cognitive abilities. Finding genetic factors, associated with cognitive abilities, will have far-reaching ramifications at all levels of understanding from DNA to brain and to behavior. Despite its complexity, cognitive ability is a reasonable candidate for molecular genetic research because it is one of the most heritable features of behavior. The first attempts to find genetic factors, associated with cognitive abilities, focused on genes, involved in brain development and function, but this direction proved to be unproductive, as it turned out that there are about 18.000 genes, and it was too difficult to detect among them those genes that are involved in cognitive processes. In addition, a considerable number of genetic factors of human traits are single-nucleotide polymorphisms (SNPs) which are in non-coding DNA regions rather than in traditional genes. The effect of each separate SNP is unimportant, and a clear expression of the general cognitive ability is noticeable only if all the associated SNPs are involved. Currently, over 11,000 such SNPs have been identified, which are uneven in different functional regions of the genome: over 60 % in gene introns, almost 30 % in intergenic DNA regions, about 5 % in gene exons, and about 5 % in transcribed regions (downstream, upstream) and frame regions (UTR'5, UTR'3) of genes. Also there are found 74 SNPs, associated with school achievements. These SNPs are disproportionately located in genes that regulate transcription and alternative splicing of other genes, which are expressed in nerve tissues of the brain during its prenatal development. Finding genetic factors that explain the inheritance of cognitive abilities is important for both science and society. Information about these factors can be used in other fields of human science – human genetics and medicine. It will open up new scientific horizons for education too owing to understanding of the genetic aspects of learning and memory

scholarly journals EVOLUTION OF DNA SEQUENCING METHODS AND PROSPECTS FOR THEIR USE IN FORENSIC DNA EXAMINATION

2020 ◽  
Vol 11 (87) ◽  
Author(s):  
Zhanna Bazyliuk ◽  
Keyword(s):  
Dna Sequencing ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Snp Markers ◽  
Degraded Dna ◽  
Phenotypic Traits ◽  
Nucleotide Polymorphisms ◽  
Biological Origin ◽  
Genetic Traits ◽  
Str Loci

The study of the human genome makes it possible to use genetic information to identify individual traits, diagnosis of diseases and forecasting and prevention of their development, promotes a personal approach when choosing treatment methods; population research, ethnogenesis and evolutionary processes. Introduction of DNA sequencing methods in domestic genetic fingerprinting will contribute to a more informative establishment of human genetic traits. The main purpose of molecular genetic research is to establish the genetic features of missing people, their relatives, to conduct paternity, to identify traces of biological origin and their identification. This article talks about the gradual development of DNA sequencing technology, which is conventionally divided into three types. The first type includes sequencing using capillary electrophoresis and pyrosequencing. The second type is high-throughput pyrosequencing, semiconductor, cyclic ligase, and the use of fluorescently labeled precursors, based on the sequencing of millions of DNA fragments simultaneously. The third stage includes methods that do not require prior sample preparation. These are methods of nanoporous sequencing, sequencing of one molecule, one-molecular sequencing. Today, each of the sequencing methods is aimed at performing different tasks. A number of methods are promising in the field of molecular-genetic examination. In world jurisprudence, sequencing is implemented mainly with the help of devices - Illumina’s, MiSeq FGx, Ion Torrent PGM from ThermoFisher and Ion S5. Research in forensic expertise of single nucleotide polymorphisms (SNP), sequencing of STR-loci and mitochondrial DNA, STR-loci and SNP-markers of the Y chromosome, will provide a high level of information, determination of human phenotypic traits, the possibility of establishing genetic traits from significantly degraded DNA. This article deals with modern problems of identification of human genetic traits and the prospect of introduction of the newest methods of sequencing for their qualitative and complete establishment.

scholarly journals Serbian Twin Registry

2019 ◽  
Vol 22 (6) ◽  
pp. 660-666 ◽  
Author(s):  
Snežana Smederevac ◽  
Dušanka Mitrović ◽  
Selka Sadiković ◽  
Ilija Milovanović ◽  
Bojan Branovački ◽  
...  
Keyword(s):  
Cognitive Abilities ◽  
Twin Study ◽  
Research Team ◽  
Human Genetics ◽  
Behavioral Genetics ◽  
Molecular Genetic ◽  
Anthropometric Measures ◽  
Twin Registry ◽  
Longitudinal Twin Study ◽  
Adult Twins

AbstractThe first twin study in Serbia began in 2011 as a part of the research project, ‘Psychological Foundations of Mental Health: Hereditary and Environmental Factors’. At the same time, the research team from the Faculty of Philosophy and Faculty of Medicine in Novi Sad established the first Serbian twin registry. The registry is intended primarily for the purpose of the research in behavioral genetics, as well as potential future studies in human genetics. It includes information on 1658 volunteers, including twin-pairs, their parent and siblings. The behavioral genetic study of adult twins has been focused on the hereditary and environmental sources of variance of different psychological characteristics, such as personality traits, cognitive abilities, executive functions and aggression, as well as some anthropometric measures and aspects of mental and physical health. Certain molecular genetic analyses have also been performed. The research team is currently starting the longitudinal twin study of children, which will be focused on different indicators of emotional, cognitive and physical development.

scholarly journals Genetics, environment and cognitive abilities: review and work in progress towards a genome scan for quantitative trait locus associations using DNA pooling

2001 ◽  
Vol 178 (S40) ◽  
pp. s41-s48 ◽  
Author(s):  
Robert Plomin ◽  
Ian Craig
Keyword(s):  
Cognitive Ability ◽  
Dna Markers ◽  
Cognitive Abilities ◽  
Genetic Research ◽  
Allelic Association ◽  
General Cognitive Ability ◽  
Chromosome 4 ◽  
Dna Pooling ◽  
Systematic Analysis ◽  
A Genome

BackgroundMultivariate genetic research indicates that genetic effects on diverse cognitive abilities are general rather than specific or modular. General cognitive ability (g), a key factor in learning and memory, is among the most heritable behavioural traits.AimsTo give a brief overview of quantitative genetic research on g and to describe initial results from a programme of research that aims to identify genes responsible for the substantial heritability of general cognitive ability.MethodThe research uses a new technique called DNA pooling, which combines DNA from individuals within a group and makes it feasible to screen thousands of DNA markers for a systematic scan of the genome for associations between DNA markers and g. Two independent samples of children with very high g scores and two control samples of children with average g scores were compared in a systematic scan of 147 markers on chromosome 4 and 66 markers on chromosome 22.ResultsThree replicated associations on chromosome 4 were identified using DNA pooling and confirmed using individual genotyping.ConclusionsThese first results of the application of DNA pooling in systematic analysis of allelic association are encouraging.

scholarly journals Genetic Factors Associated with COPD Depend on the Ancestral Caucasian/Amerindian Component in the Mexican Population

Diagnostics ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 599
Author(s):  
Gloria Pérez-Rubio ◽  
Ramcés Falfán-Valencia ◽  
Juan Carlos Fernández-López ◽  
Alejandra Ramírez-Venegas ◽  
Rafael de Jesús Hernández-Zenteno ◽  
...  
Keyword(s):  
Lower Risk ◽  
Genetic Factors ◽  
Principal Component ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genotyping Array ◽  
Mexican Mestizo ◽  
Factors Associated ◽  
Increased Risk ◽  
Reduced Risk

Genetic variability influences the susceptibility to and severity of complex diseases; there is a lower risk of COPD in Hispanics than in non-Hispanic Caucasians. In this study, we included 830 Mexican-Mestizo subjects; 299 were patients with COPD secondary to tobacco smoking, and 531 were smokers without COPD. We employed a customized genotyping array of single nucleotide polymorphisms (SNPs). The population structure was evaluated by principal component analysis and allele association through a logistic regression model and haplotype identification. In this study, 118 individuals were identified with a high Caucasian component and 712 with a high Amerindian component. Independent of the ancestral contribution, two SNPs were associated with a reduced risk (p ≤ 0.01) of developing COPD in the CYP2A6 (rs4105144) and CYP2B6 (rs10426235) genes; however, a haplotype was associated with an increased risk of COPD (p = 0.007, OR = 2.47) in the CHRNA5-CHRNA3 loci among smokers with a high Caucasian component. In Mexican-Mestizo smokers, there are SNPs in genes that encode proteins responsible for the metabolism of nicotine associated with a lower risk of COPD; individuals with a high Caucasian component harboring a haplotype in the CHRNA5-CHRNA3 loci have a higher risk of suffering from COPD.

scholarly journals Internet Cognitive Testing of Large Samples Needed in Genetic Research

2007 ◽  
Vol 10 (4) ◽  
pp. 554-563 ◽  
Author(s):  
Claire M. A. Haworth ◽  
Nicole Harlaar ◽  
Yulia Kovas ◽  
Oliver S. P. Davis ◽  
Bonamy R. Oliver ◽  
...  
Keyword(s):  
Cognitive Ability ◽  
Statistical Power ◽  
High Reliability ◽  
National Curriculum ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Reliability And Validity ◽  
Cognitive Testing ◽  
Cognitive Test ◽  
Large Samples

AbstractQuantitative and molecular genetic research requires large samples to provide adequate statistical power, but it is expensive to test large samples in person, especially when the participants are widely distributed geographically. Increasing access to inexpensive and fast Internet connections makes it possible to test large samples efficiently and economically online. Reliability and validity of Internet testing for cognitive ability have not been previously reported; these issues are especially pertinent for testing children. We developed Internet versions of reading, language, mathematics and general cognitive ability tests and investigated their reliability and validity for 10- and 12-year-old children. We tested online more than 2500 pairs of 10-year-old twins and compared their scores to similar internet-based measures administered online to a subsample of the children when they were 12 years old (> 759 pairs). Within 3 months of the online testing at 12 years, we administered standard paper and pencil versions of the reading and mathematics tests in person to 30 children (15 pairs of twins). Scores on Internet-based measures at 10 and 12 years correlated .63 on average across the two years, suggesting substantial stability and high reliability. Correlations of about .80 between Internet measures and in-person testing suggest excellent validity. In addition, the comparison of the internet-based measures to ratings from teachers based on criteria from the UK National Curriculum suggests good concurrent validity for these tests. We conclude that Internet testing can be reliable and valid for collecting cognitive test data on large samples even for children as young as 10 years.

Sex Differences in Childhood Associations between DNA Markers and General Cognitive Ability

2007 ◽  
Vol 28 (3) ◽  
pp. 161-164 ◽  
Author(s):  
Rosalind Arden ◽  
Nicole Harlaar ◽  
Robert Plomin
Keyword(s):  
Sex Differences ◽  
Single Nucleotide Polymorphisms ◽  
Cognitive Ability ◽  
Dna Markers ◽  
Community Sample ◽  
Nucleotide Polymorphisms ◽  
General Cognitive Ability ◽  
Single Nucleotide ◽  
The Difference

Abstract. An association between intelligence at age 7 and a set of five single-nucleotide polymorphisms (SNPs) has been identified and replicated. We used this composite SNP set to investigate whether the associations differ between boys and girls for general cognitive ability at ages 2, 3, 4, 7, 9, and 10 years. In a longitudinal community sample of British twins aged 2-10 (n > 4,000 individuals), we found that the SNP set is more strongly associated with intelligence in males than in females at ages 7, 9, and 10 and the difference is significant at 10. If this finding replicates in other studies, these results will constitute the first evidence of the same autosomal genes acting differently on intelligence in the two sexes.

Genetic testing for autistic spectrum disorders

2020 ◽  
pp. 78-79
Author(s):  
Е.А. Померанцева ◽  
А.А. Исаев ◽  
А.П. Есакова ◽  
И.В. Поволоцкая ◽  
Е.В. Денисенкова ◽  
...  
Keyword(s):  
Genetic Testing ◽  
American Academy ◽  
Autistic Spectrum Disorder ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Autistic Spectrum Disorders ◽  
Autistic Spectrum ◽  
American Academy Of Pediatrics ◽  
Spectrum Disorders ◽  
Testing Algorithm

Согласно рекомендациям Американской академии педиатрии при постановке диагноза аутизм, следует направить семью на консультацию генетика и генетическое обследование. Однако оптимальный подход к алгоритму генетического обследования при выявлении расстройства аутистического спектра еще предстоит разработать. В рамках исследования было проведено сравнение выявляемости генетических факторов аутизма различными молекулярно-генетическими тестами. According to American Academy of Pediatrics recent guidelines, each family with a child diagnosed with autistic spectrum disorder should be reffered to a medical geneticist and offered genetic tests. However, an optimal genetic testing algorithm has yet to be developed. This study was conducted to compare abilities of different molecular-genetic methods to detect genetic factors of autistic spectrum disorders.

Epigenetic factors and molecular markers of the risk of early pregnancy losses

GYNECOLOGY ◽  
2019 ◽  
Vol 21 (3) ◽  
pp. 9-16
Author(s):  
Nataly I Frolova ◽  
Tatiana E Belokrinitskaya
Keyword(s):  
Early Pregnancy ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Pregnancy Complication ◽  
Common Complication ◽  
Epigenetic Factors ◽  
Genetic Determination ◽  
Periconceptional Period ◽  
Combined Impact

Background. Miscarriage is a common complication in early pregnancy. Current studies have shown a higher prevalence of miscarriage, ranging from 10 to 20%. The review is devoted to modern concepts of etiology and pathogenesis of early pregnancy losses. Aim. Assess the role of epigenetic factors and molecular-genetic markers in the pathogenesis and prediction of early pregnancy losses Materials and methods. In order to write this review domestic and foreign publications were searched in Russian and international search systems (PubMed, eLibrary, etc.) for the last 10-15 years. Relevant articles from the peer-reviewed literature and clinical practice guidelines were included. Results. Many recent studies have proved the contribution of various epigenetic factors to the pathogenesis of spontaneous miscarriages, and the molecular-genetic determination such kinds of pregnancy complication has been confirmed. Conclusion. The miscarriage in early gestation is driven by combined impact of epigenetic and molecular-genetic factors, as well as the presence of intergenic interactions. It is may lead to deterioration of physiological functions, and maternal pathologenic pathways could be changed as during her periconceptional period as so during the pregnancy.

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