(Press-News.org) Contact information: Lynn Celmer
lcelmer@aasmnet.org
630-737-9700
American Academy of Sleep Medicine
Study supports a causal role in narcolepsy for a common genetic variant
Results show a remarkable genetic association of almost 100 percent
DARIEN, IL – A new study conducted across Europe found an extraordinary association between narcolepsy and a specific gene variant related to the immune system.
The modified genome-wide association study involved 1,261 people with narcolepsy, representing nearly 90 percent of European patients suffering from narcolepsy with cataplexy who have complete diagnostic work-up and DNA available. They were matched with 1,422 controls. High-resolution genotyping identified genetic variants including those in the human leukocyte antigen (HLA) system, which contains genes related to immune system function. Analysis was performed by logistic regression.
Results show that participants with the HLA allele DQB1*06:02 were 251 times more likely to have narcolepsy with cataplexy than participants without the gene variant. DQB1*06:02 had a remarkably high negative predictive value of 99.32 percent, which means that nearly 100 percent of narcolepsy with cataplexy patients are DQB1*06:02 positive. Four other DQB1 alleles provided protection against narcolepsy, strongly supporting a causal role for DQB1 in narcolepsy.
"For the first time we have tested the HLA association all over Europe," said principal investigator and lead author Mehdi Tafti, professor in the Center for Integrative Genomics at the University of Lausanne and Lausanne Hospital in Switzerland. "This almost 100 percent association with HLA is somehow unique to narcolepsy and suggests a causal implication."
Recent studies suggest that narcolepsy may be caused by an autoimmune response to an environmental trigger such as an infection. In people who are genetically susceptible to narcolepsy, the immune system may respond to the trigger by mistakenly attacking and destroying brain cells that make hypocretin, a hormone that helps promote alertness.
The authors noted that DQB1*06:02 is a common gene variant that is present in about 20 percent of the general European population. As a result, DQB1*06:02 had a low positive predictive value of only 65.68 percent. However, they suggested that high-resolution genotyping could play a valuable role in diagnosing patients suspected of having narcolepsy and evaluating at-risk populations.
"For clinicians these findings indicate they should reconsider the diagnosis of narcolepsy with cataplexy in HLA DQB1*06:02 negative patients," said American Academy of Sleep Medicine spokesperson Dr. Nathaniel Watson.
According to the American Academy of Sleep Medicine, narcolepsy is a rare but often disabling sleep illness characterized by excessive sleepiness. People with narcolepsy experience repeated daily episodes of an irrepressible need to sleep or lapses into sleep, which may occur as sudden, irresistible sleep "attacks." Another common symptom of narcolepsy is cataplexy, which involves sudden muscle weakness caused by strong emotions such as laughter.
###
To request a copy of the study, "DQB1 Locus Alone Explains Most of the Risk and Protection in Narcolepsy with Cataplexy in Europe," or to arrange an interview with the study author or an AASM spokesperson, please contact Communications Coordinator Lynn Celmer at 630-737-9700, ext. 9364, or lcelmer@aasmnet.org.
The monthly, peer-reviewed, scientific journal Sleep is published online by the Associated Professional Sleep Societies LLC, a joint venture of the American Academy of Sleep Medicine and the Sleep Research Society. The AASM is a professional membership society that improves sleep health and promotes high quality patient centered care through advocacy, education, strategic research, and practice standards. A searchable directory of AASM accredited sleep centers is available at http://www.sleepeducation.com.
Study supports a causal role in narcolepsy for a common genetic variant
Results show a remarkable genetic association of almost 100 percent
2014-01-02
ELSE PRESS RELEASES FROM THIS DATE:
Study finds patients give 'broad endorsement' to stem cell research
2014-01-02
Study finds patients give 'broad endorsement' to stem cell research
In an early indication of lay opinions on research with induced pluripotent stem cells (iPSCs), which are stem cells made from skin or other tissues, a new study by bioethicists at Johns Hopkins University ...
Hispanic women are less aware of weight and heart disease risk
2014-01-02
Hispanic women are less aware of weight and heart disease risk
New Rochelle, NY, January 2, 2014—Minority women tend to be less aware of the increased risk of cardiovascular disease (CVD) they face by being overweight or obese. The results ...
Study: Open collaboration, which led to Bitcoin, TedX & Wikipedia, likely to grow
2014-01-02
Study: Open collaboration, which led to Bitcoin, TedX & Wikipedia, likely to grow
New research in INFORMS Journal shows that open collaboration brings innovation
Open collaboration – which has brought the world Bitcoin, TEDx ...
The people's agenda -- America's priorities and outlook for 2014
2014-01-02
The people's agenda -- America's priorities and outlook for 2014
Associated Press-NORC Center for Public Affairs Research survey reveals the American people's list of key issues that need government attention in the year ahead
Chicago, January 2, 2014—The ...
More evidence suggests type 2 diabetes is an inflammatory disease
2014-01-02
More evidence suggests type 2 diabetes is an inflammatory disease
New research published in the Journal of Leukocyte Biology suggests that macrophages invade the diabetic pancreas, producing large amounts of cytokines that contribute ...
Turning off the 'aging genes'
2014-01-02
Turning off the 'aging genes'
Computer algorithm developed by Tel Aviv University identifies genes that could be transformed to stop the aging process
Restricting calorie consumption is one of the few proven ways to combat aging. Though the underlying ...
Residual activity 'hot spots' in the brain key for vision recovery in stroke patients
2014-01-02
Residual activity 'hot spots' in the brain key for vision recovery in stroke patients
According to study published in Restorative Neurology and Neuroscience
Amsterdam, NL, January 2, 2014 – Scientists know that vision restoration training (VRT) can help patients who have lost ...
Think you're an expert bettor? You're probably wrong
2014-01-02
Think you're an expert bettor? You're probably wrong
Even rational gamblers can be deluded about how good they are at their game
If there's one thing you can bet on in horseracing, it's this: so-called successful bettors will always think that their little black books ...
Scientists uncover image of muscular dystrophy defect & design targeted drug candidates
2014-01-02
Scientists uncover image of muscular dystrophy defect & design targeted drug candidates
JUPITER, FL, January 2, 2013 – Scientists from the Florida campus of The Scripps Research Institute have revealed an atomic-level view of a genetic defect that causes a ...
Atlas Mountains in Morocco are buoyed up by superhot rock, study finds
2014-01-02
Atlas Mountains in Morocco are buoyed up by superhot rock, study finds
The Atlas Mountains defy the standard model for mountain structure in which high topography must have deep roots for support, according to a new study from Earth scientists at USC.
In ...
LAST 30 PRESS RELEASES:
Thirty-year mystery of dissonance in the “ringing” of black holes explained
Less intensive works best for agricultural soil
Arctic rivers project receives “national champion” designation from frontiers foundation
Computational biology paves the way for new ALS tests
Study offers new hope for babies born with opioid withdrawal syndrome
UT, Volkswagen Group of America celebrate research partnership
New Medicare program could dramatically improve affordability for cancer drugs – if patients enroll
Are ‘zombie’ skin cells harmful or helpful? The answer may be in their shapes
University of Cincinnati Cancer Center presents research at AACR 2025
Head and neck, breast, lung and survivorship studies headline Dana-Farber research at AACR Annual Meeting 2025
AACR: Researchers share promising results from MD Anderson clinical trials
New research explains why our waistlines expand in middle age
Advancements in muon detection: Taishan Antineutrino Observatory's innovative top veto tracker
Chips off the old block
Microvascular decompression combined with nerve combing for atypical trigeminal neuralgia
Cutting the complexity from digital carpentry
Lung immune cell type “quietly” controls inflammation in COVID-19
Fiscal impact of expanded Medicare coverage for GLP-1 receptor agonists to treat obesity
State and sociodemographic trends in US cigarette smoking with future projections
Young adults drive historic decline in smoking
NFCR congratulates Dr. Robert C. Bast, Jr. on receiving the AACR-Daniel D. Von Hoff Award for Outstanding Contributions to Education and Training in Cancer Research
Chimpanzee stem cells offer new insights into early embryonic development
This injected protein-like polymer helps tissues heal after a heart attack
FlexTech inaugural issue launches, pioneering interdisciplinary innovation in flexible technology
In Down syndrome mice, 40Hz light and sound improve cognition, neurogenesis, connectivity
Methyl eugenol: potential to inhibit oxidative stress, address related diseases, and its toxicological effects
A vascularized multilayer chip reveals shear stress-induced angiogenesis in diverse fluid conditions
AI helps unravel a cause of Alzheimer's disease and identify a therapeutic candidate
Coalition of Autism Scientists critiques US Department of Health and Human Services Autism Research Initiative
Structure dictates effectiveness, safety in nanomedicine
[Press-News.org] Study supports a causal role in narcolepsy for a common genetic variantResults show a remarkable genetic association of almost 100 percent