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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Genome-wide Association Studies-GWAS01:11

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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.
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Epigenetic Regulation01:37

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
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Related Experiment Video

Updated: Dec 24, 2025

Software-Assisted Quantitative Measurement of Osteoarthritic Subchondral Bone Thickness
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Interplay between genetics and epigenetics in osteoarthritis.

Sarah J Rice1, Frank Beier2,3, David A Young1

  • 1Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.

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|April 11, 2020
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Recent genetic studies reveal that epigenetic mechanisms mediate osteoarthritis (OA) risk. Targeting the epigenome offers new therapeutic strategies for OA susceptibility.

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Area of Science:

  • Molecular genetics
  • Epigenetics
  • Osteoarthritis research

Background:

  • Genome-wide scans have identified numerous novel osteoarthritis (OA) risk loci.
  • Epigenetic studies in joint tissues examine DNA methylation, histone modifications, and regulatory RNAs.
  • These epigenetic analyses investigate joint development, homeostasis, and disease using human and animal models.

Purpose of the Study:

  • To explore the interplay between genetic risk factors and epigenetic mechanisms in osteoarthritis.
  • To understand how genetic polymorphisms confer OA susceptibility through epigenetic pathways.
  • To identify the epigenome as a potential therapeutic target for OA.

Main Methods:

  • Genome-wide association studies (GWAS) for genetic risk loci identification.
  • Epigenetic analyses including DNA methylation, histone modifications, and regulatory RNA profiling.
  • Comparative analysis of genetic and epigenetic data from human and animal models.

Main Results:

  • Many OA genetic risk signals interact with, map to, or correlate with epigenetic mediators.
  • Epigenetic mechanisms significantly influence gene expression, mediating the functional effects of OA genetic risk polymorphisms.
  • A strong link exists between genetic predisposition and epigenetic regulation in OA pathogenesis.

Conclusions:

  • Epigenetic mechanisms are a primary pathway through which genetic risk influences osteoarthritis.
  • Understanding these interactions provides crucial mechanistic insight into OA susceptibility.
  • The epigenome represents a promising target for novel therapeutic interventions in OA.