Corporate Banner
Satellite Banner
Genomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Gene Variants Found Associated With Human Immune System, Autoimmune Disease

Published: Friday, September 27, 2013
Last Updated: Friday, September 27, 2013
Bookmark and Share
Numerous studies have reported that certain diseases are inherited. But genetics also plays a role in immune response, affecting our ability to stave off disease.

The new findings, from the SardiNIA Study of Aging, supported in part by the National Institute on Aging (NIA) at the National Institutes of Health, are published in the Sept. 26, 2013 issue of Cell.

The SardiNIA researchers found 89 independent gene variants on the genome associated with regulating production of immune system cells. Five of these sites for the gene variants coincide with known genetic contributors to autoimmune diseases, and extend previous knowledge to identify the particular cell types that are affected by these genes.

“We know that certain diseases run in families. From this study, we wanted to know the extent to which relative immune resistance or susceptibility to disease is inherited in families,” said David Schlessinger, Ph.D., chief of NIA’s Laboratory of Genetics. “If your mother is rarely sick, for example, does that mean you don’t have to worry about the bug that’s going around? Is immunity in the genes? According to our findings, the answer is yes, at least in part.”

The study team, led by Francesco Cucca, M.D., director of the National Research Council’s Institute of Genetic and Biomedical Research in Italy, discovered that variants in particular genes had very significant effects on the levels of one or more particular types of immune system cells. A number of these genes are also implicated in risk for various autoimmune diseases, including ulcerative colitis, multiple sclerosis, rheumatoid arthritis, and celiac disease.

Understanding the genes affecting immune system cells and risk for autoimmune disease is the first step in developing therapies that are personalized according to an individual’s needs, although more research is needed to further characterize the role genetics plays in the complex dynamics of the immune system, the researchers pointed out.

The human immune system is a complex network of cells, tissues, and organs working together to fight disease and keep us at optimal health and function. Our first line of defense, the innate immune system, includes barriers, like skin and mucus as well as specific cells and molecules providing a prompt but nonspecific response to harmful germs — pathogens — preventing them from entering the body or eliminating them rapidly after infection. The second line of defense, the adaptive immune system, engages the body to produce, store, and transport cells and molecules providing more specific responses to combat pathogens. The immune system has evolved to reject pathogens and even some cancers, but high levels of immune function can also make the body prone to autoimmune disease. Autoimmune diseases occur when the body uses the immune system against itself, attacking normal, healthy cells.

The number of adaptive immune system cells available to attack a pathogen or, in the case of autoimmune disease, attack healthy cells, is what appears to be regulated by genetics. The SardiNIA research team tested the heritability of this immune response using a genome-wide association study, looking at approximately 8.2 million variants in blood samples taken from 1,629 Sardinians.

Small, single-letter variations in genes naturally occur throughout the DNA code and are generally without effect on any specific trait. However, in some instances, scientists find that a particular variant is more common among people with a trait or disease.

In the analyses, researchers identified 89 independent variants and 53 sites associated with immune cell characteristics. Most of these associations were previously undiscovered. Some had been identified before in other studies, but without firm statistical significance. The researchers compared their findings with data in public repositories, and in some cases, found that these genes had already been associated with autoimmune disease.

This finding is the most recent of several discoveries made by the SardiNIA study itself and in conjunction with other groups in international consortia. Previous findings identified gene associations with height, fasting blood sugar, cholesterol and other fats in the blood, beta-thalassemia (a blood disorder), and uric acid levels, which can contribute to gout and risk of heart and kidney disease.

One of the unique features of the investigation is its study population — the Sardinians. “The lineage of most Sardinians goes back approximately 20,000 years, to the Mediterranean island’s original settler population — and an ideal group for this type of research,” said Cucca. “We have learned that in case after case, findings in Sardinia have been applicable world-wide.”

Researchers note that understanding the genetics behind immune system response and autoimmune disease may have future implications on therapeutic targets, especially in the treatment of autoimmune disease.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,500+ scientific posters on ePosters
  • More than 3,800+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Drug Combination May be Highly Effective in Recurrent Ovarian Cancer
The drugs were tested in a phase I combination study followed by a randomized phase 2 trial.
Monday, June 02, 2014
TCGA Bladder Cancer Study Reveals Potential Drug Targets, Similarities to Several Cancers
Investigators have identified new potential therapeutic targets for a major form of bladder cancer, including important genes and pathways that are disrupted in the disease.
Thursday, January 30, 2014
NIH Program Explores the Use of Genomic Sequencing in Newborn Healthcare
Can sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides?
Wednesday, September 04, 2013
Clues to Congenital Heart Disease
Non-inherited mutations in hundreds of genes together account for about 1 in 10 cases of severe congenital heart defects.
Wednesday, May 22, 2013
Gene Therapy for Salivary Gland Shows Promise
An experimental trial showed that gene therapy can be performed safely in the human salivary gland.
Tuesday, December 04, 2012
Gene Therapy Restores Sense of Smell in Mice
Mice that were unable to smell from birth gained the ability to smell when researchers used gene therapy to regrow structures called cilia on cells that detect odor.
Tuesday, October 02, 2012
Researchers Discover Key Mutation in Acute Myeloid Leukemia
Researchers have discovered mutations in a particular gene that affects the treatment prognosis for some patients with acute myeloid leukemia (AML), an aggressive blood cancer that kills 9,000 Americans annually.
Monday, November 15, 2010
NIH Launches Genotype-Tissue Expression Project
Project to chart influence of DNA changes on gene function in human tissues and organs.
Wednesday, October 13, 2010
Gene Variations that Alter Key Enzyme Linked to Prostate Cancer
Ties found previously for susceptibility to testicular cancer, adrenal gland tumors.
Monday, October 04, 2010
NCBI Launches the Database of Genomic Structural Variations
A new tool to aid in understanding the genetics of health and disease.
Friday, October 01, 2010
NIH Expands Network Focused on How Genes Affect Drug Responses
NIH plans to spend $161.3 million over the next five years to expand the Pharmacogenomics Research Network.
Thursday, September 09, 2010
Gene Scan Finds Link Across Array of Childhood Brain Disorders
Researchers found gene mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.
Friday, August 27, 2010
New Compound Improves Obesity-Related Health Complications in NIH-Led Study
A report of the study, which was conducted with obese mice, appears online in the Journal of Clinical Investigation.
Tuesday, July 27, 2010
Gene Variant that may Prevent African Sleeping Sickness also Leads to Increased Chance of Kidney Disease
NIH researchers found that gene variants in APOL1, more common in African Americans, come with both health risk and reward.
Monday, July 19, 2010
NIH Expands National Network for Transforming Clinical and Translational Research
Nine Institutions to receive $255 million over five years to help scientists bridge laboratory discoveries to patient treatments.
Thursday, July 15, 2010
Scientific News
Poor Survival Rates in Leukemia Linked to Persistent Genetic Mutations
For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.
Searching Big Data Faster
Theoretical analysis could expand applications of accelerated searching in biology, other fields.
Growing Hepatitis C in the Lab
Recent discovery allows study of naturally occurring forms of hepatitis C virus (HCV) in the lab.
Inciting an Immune Attack on Cancer Cells
A new minimally invasive vaccine that combines cancer cells and immune-enhancing factors could be used clinically to launch a destructive attack on tumors.
Reprogramming Cancer Cells
Researchers on Mayo Clinic’s Florida campus have discovered a way to potentially reprogram cancer cells back to normalcy.
Genetic Overlapping in Multiple Autoimmune Diseases May Suggest Common Therapies
CHOP genomics expert leads analysis of genetic architecture, with eye on repurposing existing drugs.
Surprising Mechanism Behind Antibiotic-Resistant Bacteria Uncovered
Now, scientists at TSRI have discovered that the important human pathogen Staphylococcus aureus, develops resistance to this drug by “switching on” a previously uncharacterized set of genes.
How DNA ‘Proofreader’ Proteins Pick and Edit Their Reading Material
Researchers from North Carolina State University and the University of North Carolina at Chapel Hill have discovered how two important proofreader proteins know where to look for errors during DNA replication and how they work together to signal the body’s repair mechanism.
Fat in the Family?
Study could lead to therapeutics that boost metabolism.
Tissue Bank Pays Dividends for Brain Cancer Research
Checking what’s in the bank – the Brisbane Breast Bank, that is – has paid dividends for UQ cancer researchers.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!