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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...
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...
Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...

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Related Experiment Video

Updated: Jun 20, 2026

An Adoptive Transfer Model of Rheumatoid Arthritis in Mice
07:37

An Adoptive Transfer Model of Rheumatoid Arthritis in Mice

Published on: June 6, 2025

Rheumatoid arthritis genetics: 2009 update.

Robert M Plenge1

  • 1Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Suite 168, Boston, MA 02115, USA. rplenge@partners.org

Current Rheumatology Reports
|September 24, 2009
PubMed
Summary

Recent genetic discoveries enhance understanding of rheumatoid arthritis (RA) susceptibility, identifying new risk genes outside the major histocompatibility complex (MHC). These findings offer potential for improved patient care and disease classification.

Related Experiment Videos

Last Updated: Jun 20, 2026

An Adoptive Transfer Model of Rheumatoid Arthritis in Mice
07:37

An Adoptive Transfer Model of Rheumatoid Arthritis in Mice

Published on: June 6, 2025

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Human genetic discoveries are advancing the understanding of rheumatoid arthritis (RA) susceptibility.
  • Genome-wide association studies (GWAS) have identified numerous RA risk loci beyond the HLA-DRB1 shared epitope.
  • These include additional major histocompatibility complex (MHC) alleles and over 10 regions outside the MHC.

Purpose of the Study:

  • To review recent advances in rheumatoid arthritis genetics.
  • To discuss the implications of these discoveries for understanding disease susceptibility.
  • To explore the potential of genetic findings to improve patient care and disease classification.

Main Methods:

  • Review of recent human genetic discoveries, including genome-wide association studies (GWAS).
  • Analysis of identified rheumatoid arthritis (RA) risk loci.
  • Examination of the biological pathways and disease associations of risk genes.

Main Results:

  • Numerous RA risk loci have been identified, both within and outside the MHC.
  • Newly discovered risk alleles are common, have modest effects, and explain <5% of disease variance.
  • Emerging themes include shared risk loci across autoimmune diseases and involvement in specific biological pathways like NF-κB signaling.

Conclusions:

  • Recent genetic discoveries are refining our understanding of RA pathogenesis.
  • Genetics provides a framework for classifying RA into clinically meaningful subsets.
  • These insights hold promise for the future of personalized medicine and improved patient management in RA.