Related Experiment Video
Updated: May 26, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Phenome-genome relations and pathogenetics of multifactorial diseases]
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk
|December 8, 2011
Summary
This study explores the genetic basis of multifactorial diseases, introducing concepts like syntropic genes and diseasomes. It investigates gene-environment interactions and epigenetic inheritance for conditions such as asthma and cardiovascular disease.
Area of Science:
- Genetics and Genomics
- Systems Biology
- Epigenetics
Context:
- Multifactorial diseases arise from complex interactions between genetic and environmental factors.
- Understanding phenome-genome relationships is crucial for disease etiology.
- Existing research often focuses on single gene disorders, necessitating a broader systems approach for complex diseases.
Purpose:
- To define and explore key concepts in multifactorial disease genetics, including "arthritism", syntropies, syntropic genes, diseasomes, and phenologs.
- To present original research findings on syntropic genes associated with multifactorial disease predisposition.
- To investigate DNA methylation in atherosclerotic plaques and conduct whole-genome analysis for asthma.
Summary:
- The study introduces novel concepts like "arthritism" and syntropic genes to explain predisposition to multifactorial diseases.
- Original investigations analyzed DNA methylation in atherosclerosis and performed whole-genome analysis for asthma, identifying potential genetic underpinnings.
- A hypothesis suggests ischaemic preconditioning as a mechanism for cardiovascular disease continuum, linking it to synthropy.
Impact:
- Provides a conceptual framework for understanding the genetic architecture of complex diseases.
- Highlights the role of syntropic genes and epigenetic factors in disease development.
- Suggests new avenues for research into cardiovascular disease and asthma, emphasizing systems-level and inheritance patterns.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
02:02Genomics
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:29Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...