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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-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...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles 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...
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
Atherosclerosis I: Introduction01:30

Atherosclerosis I: Introduction

Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...

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Related Experiment Video

Updated: May 26, 2026

Flow Cytometry Analysis of Immune Cell Subsets within the Murine Spleen, Bone Marrow, Lymph Nodes and Synovial Tissue in an Osteoarthritis Model
12:23

Flow Cytometry Analysis of Immune Cell Subsets within the Murine Spleen, Bone Marrow, Lymph Nodes and Synovial Tissue in an Osteoarthritis Model

Published on: April 24, 2020

Genetic factors in OA pathogenesis.

Kay Chapman1, Ana M Valdes

  • 1Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.

Bone
|December 20, 2011
PubMed
Summary
This summary is machine-generated.

Genetic studies reveal key genes influencing osteoarthritis (OA) development and pain. Variants in MCF2L are linked to large joint OA in Caucasians, offering new insights into disease mechanisms.

Related Experiment Videos

Last Updated: May 26, 2026

Flow Cytometry Analysis of Immune Cell Subsets within the Murine Spleen, Bone Marrow, Lymph Nodes and Synovial Tissue in an Osteoarthritis Model
12:23

Flow Cytometry Analysis of Immune Cell Subsets within the Murine Spleen, Bone Marrow, Lymph Nodes and Synovial Tissue in an Osteoarthritis Model

Published on: April 24, 2020

Area of Science:

  • Genetics
  • Molecular Biology
  • Rheumatology

Background:

  • Osteoarthritis (OA) has a significant genetic basis, influencing joint damage and pain.
  • Previous genetic studies identified candidate genes like GDF5, DVWA, HLA class II DQB1, and BTNL2, with varying associations across ethnicities.
  • A 7q22 chromosomal region is consistently linked to OA in Caucasian populations.

Purpose of the Study:

  • To explore the genetic underpinnings of osteoarthritis.
  • To identify novel genetic variants associated with OA susceptibility and pathology.
  • To investigate the role of specific genes in OA-related nociception.

Main Methods:

  • Genome-wide association scans (GWAS) in diverse populations.
  • Imputation techniques to enhance GWAS data analysis.
  • Analysis of genetic variants in relation to OA phenotypes.

Main Results:

  • GWAS in Asians identified associations with extracellular matrix and immune response genes.
  • A ~300 kb region on chromosome 7q22 is reproducibly associated with OA in Caucasians.
  • A European GWAS identified a variant in the MCF2L gene associated with large joint OA, potentially linked to nociception.

Conclusions:

  • Genetic factors play a crucial role in osteoarthritis pathogenesis.
  • MCF2L variants represent a potential new target for understanding OA, particularly nociception.
  • Continued large-scale genetic studies are expected to uncover more OA-associated variants.