International Study Provides New Genetic Clue to Anorexia LA JOLLA, CA September 11, 2013 The largest DNA-sequencing study of anorexia nervosa has linked the eating disorder to variants in a gene coding for an enzyme that regulates cholesterol metabolism. The finding suggests that anorexia could be caused in part by a disruption in the normal processing of cholesterol, which may disrupt mood and eating behavior.
These findings point in a direction that probably no one would have considered taking before, said Nicholas J. Schork, a professor at The Scripps Research Institute (TSRI). Schork was the senior investigator for the multicenter study, which was published recently online ahead of print in the journal Molecular Psychiatry.
Anorexia affects up to 1 percent of women, and has an estimated mortality rate of 10 or more percent, making it perhaps the deadliest of psychiatric illnesses. Anorexics severely restrict eating and become emaciated, yet see themselves as fat. Individuals with anorexia nervosa tend to be perfectionistic, anxious or depressed, and obsessive, said Walter Kaye, a co-author on the study, professor at the University of California (UC), San Diego School of Medicine and principal investigator of the Price Foundation Genetic Studies of Anorexia Nervosa.
How the disorder develops is still not fully understood. Anorexia predominantly affects girls and young women (the estimated gender ratio is nearly 10:1) and appears to be influenced in part by cultural factors, stress, puberty and social networks. Yet twin studies suggest that genetic factors have the largest influence.
The big mystery has been: what are those genetic factors? Gene-association studies of anorexics have so far produced few replicable findings. Researchers suspect that many genes can contribute to the disorder and thus only large studies will have the statistical power to detect those individual genetic influences.
For this project the largest-ever sequencing study of anorexia Schork worked with an international team of collaborators representing more than two dozen research institutions. The many contributors included first author Ashley Scott-Van Zeeland from The Scripps Translational Science Institute and Scripps Health in La Jolla, California; Kaye and Pei-an Betty Shih from the UC San Diego; Andrew Bergen from SRI International in Menlo Park, California; Wade Berretini from the University of Pennsylvania; and Pierre Magistreti from Ecole Polytechnique F d rale de Lausanne. The project made use of genetic information from more than 1,200 anorexia patients and nearly 2,000 non-anorexic control subjects.
For an initial discovery study in 334 subjects, the researchers catalogued the variants of a large set of genes that had already been linked to feeding behavior or had been flagged in previous anorexia studies. Of more than 150 candidate genes, only a handful showed statistical signs of a linkage with anorexia in this group of subjects.
One of the strongest signs came from the gene EPHX2, which codes for epoxide hydrolase 2 an enzyme known to regulate cholesterol metabolism. When we saw that, we thought that we might be onto something, because nobody else had reported this gene as having a pronounced role in anorexia, said Schork.
The team followed up with several replication studies, each using a different cohort of anorexia patients and controls, as well as different genetic analysis methods. The scientists continued to find evidence that certain variants of EPHX2 occur more frequently in people with anorexia.
To help make sense of these findings, they looked at existing data from a large-scale, long-term heart disease study and determined that a subset of the implicated EPHX2 variants have the effect of altering the normal relationship between weight gain and cholesterol levels.
We thought that with further studies this EPHX2 finding might go away, or appear less compelling, but we just kept finding evidence to suggest that it plays a role in anorexia, said Schork.
It isn't yet clear how EPHX2 variants that cause an abnormal metabolism of cholesterol would help trigger or maintain anorexia. But Schork noted that people with anorexia often have remarkably high cholesterol levels in their blood, despite being severely malnourished. Moreover, there have been suggestions from other studies that weight loss, for example in people with depression, can lead to increases in cholesterol levels. At the same time, there is evidence that cholesterol, a basic building block of cells, particularly in the brain, has a positive association with mood. Conceivably, some anorexics for genetic reasons may feel an improved mood, via higher cholesterol, by not eating.
The hypothesis would be that in some anorexics the normal metabolism of cholesterol is disrupted, which could influence their mood as well as their ability to survive despite severe caloric restriction, said Schork.
For now that's just a hypothesis, which Schork emphasized should be investigated further with more gene association studies and more studies of EPHX2 variants' biological effects.
The study was funded principally by the Price Foundation of Switzerland. It was a long and difficult study and the foundation was very gracious and patient, and that was important, Schork said.
Other funding came from the National Institutes of Health (e.g., grant 5 UL1 RR025774). For more information, see http://www.nature.com/mp/journal/vaop/ncurrent/abs/mp201391a.html
In addition to Schork, Kaye, Scott-Van Zeeland, Shih, Bergen, Berretini and Magistreti, contributors to the study, Evidence for the role of EPHX2 gene variants in anorexia nervosa, about 40 other scientists from: The Scripps Translational Science Institute of TSRI and Scripps Health (La Jolla, California); UC San Diego; Tulane University (New Orleans, Louisiana);
Most recent headlines
05/01/2027
Worlds first 802.15.4ab-UWB chip verified by Calterah and Rohde & Schwarz to be ...
06/09/2026
June 9 2026, 23:00 (PDT) Dolby and MagentaTV Bring Fans Closer to the FIFA Worl...
04/08/2026
Dalet, a leading technology and service provider for media-rich organizations, t...
04/07/2026
When Canada qualified for the FIFA World Cup 2026, OneSoccer knew this wasn'...
04/07/2026
Celebrates company's 80th anniversary
Rhodes have recently revealed that they will be producing a limited run of electric pianos in celebration of their...
04/07/2026
Blackmagic Design Cameras Empower Youth Broadcasting Program
Brie Clayton July 3, 2026
0 Comments
Blackmagic Pocket Cinema Camera 6K Pro and Blackmagi...
04/07/2026
iZotope Joins Boris FX
Boris Yamnitsky July 3, 2026
0 Comments
iZotope, the team behind RX and Ozone, is joining Boris FX. A letter from founder Boris...
04/07/2026
April 7 2026, 19:00 (PDT) Detective Conan: Fallen Angel of the Highway Opens in...
03/07/2026
New bundle & three Single Packs
Continuing to expand their already sizeable orchestral collection, VSL's latest release introduces three new Single Pack...
03/07/2026
Venue installs new ATC-equipped control room
LSO St Luke's, a unique music venue that also serves as the home of the London Symphony Orchestra, have rec...
03/07/2026
Caden Pearson appointed new Commissioning Editor for NITV
3 July, 2026
Media releases
National Indigenous Television (NITV) has strengthened its commitment...
03/07/2026
1 February 2023
SHARE Facebook Twitter Linkedin Email
Munich, Germany, 1st February 2023: Cinegy GmbH, the premier provider of software technology for digit...
03/07/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
03/07/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
03/07/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
03/07/2026
Death Star
Andy Marken July 2, 2026
0 Comments
Look, I can't get involved. I've got work to do. It's not that I like the Empire; I hate i...
03/07/2026
Berklee's New Visual Identity: Honoring Our History, Building for What's...
03/07/2026
Scripps Research scientists awarded $2M to advance global disease surveillance Two Gates Foundation grants will expand wastewater surveillance and AI-driven dis...
03/07/2026
Joan Pulupa joins Scripps Research faculty to study the organization of DNA in brain cells and its links to neurodegeneration Using smell-sensing neurons and ad...
02/07/2026
Entering her senior year, this hometown girl is paving a career in live sports production gaining experience in replay and audio and as a TD
In the live-sports...
02/07/2026
In-venue and creative video staffers at the professional and collegiate level ha...
02/07/2026
BLAST, a competitive entertainment company focused on esports, has announced more than $133 million in revenue for 2025, representing more than 40% year-over-ye...
02/07/2026
Riedel Communications has announced official SKAARHOJ panel support for SimplyLive production workflows, enabled through the SimplyLive 2.1 release. The integra...
02/07/2026
The Fire Rescue Service of the Czech Republic has deployed LiveU video-over-bond...
02/07/2026
Gravity Media USA has announced the appointment of Brittney Boston as Head of Business Development, effective July 1, 2026. Based in Nashville, Tennessee, Bosto...
02/07/2026
TwelveLabs, a video intelligence company, has announced $100 million in Series B funding co-led by NEA and NAVER Ventures, with participation from Amazon, Radic...
02/07/2026
The Pro Padel League (PPL) has announced a broadcast partnership with USA Sports that will air five PPL championship matches on CNBC during the 2026 season, the...
02/07/2026
LiveLike, a digital fan engagement platform, has announced eight confirmed FIFA ...
02/07/2026
Cobalt Digital has received Future's Best of Show Award, presented by AV Technology at InfoComm 2026, for its blueCORE family of standalone signal processor...
02/07/2026
Synamedia has announced the appointment of Dr. Tzvi Gerstl as Chief Executive Officer. Paul Segre, who has served as CEO for the past six years, will transition...
02/07/2026
The Esports Foundation (EF) and Sony Group Corporation have announced an expanded collaboration for the Esports World Cup 2026 (EWC), taking place in Paris, Fra...
02/07/2026
Zee Entertainment Enterprises Ltd. ( Z') has announced exclusive broadcast and digital rights for the Bundesliga in India for five years, beginning with the...
02/07/2026
An effort uniting News, Sports, Local, and Telemundo, the 50+-camera live produc...
02/07/2026
Zoey Deutch, John Slattery, Ken Marino, Miles Gutierrez-Riley, and Ben Wang appe...
02/07/2026
Stammering, stuttering, strangulated tones
The Crow Hill Company's latest creation promises to be the most original sound set they've produced to d...
02/07/2026
A new era in unmixing and spectral editing
The latest version of Steinberg's spectral audio-editing software has just arrived, building on the strength...
02/07/2026
Aims to simplify additive synthesis
Sine Machine is the debut launch from Melatonin, a Vienna-based developer who have spent the past six years creating wha...
02/07/2026
Products to remain fully active & supported
Following the news of Native Instruments joining the inMusic brand line-up, Academy and Emmy Award-winning visua...
02/07/2026
What you missed!
Last weekend, Saturday 27 June 2026, saw the debut of Sound On Sounds new GearExpo UK event, the largest dedicated pro-audio event to take ...
02/07/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
02/07/2026
Following the successful launch of its inaugural APAC Mentoring Programme last month, the Rise AV APAC Regional Council will bring the conversation around mento...
02/07/2026
Blackmagic PYXIS 6K Used to Shoot Director Takahisa Zeze's Cry Out
Brie Clayton July 2, 2026
0 Comments
Highly mobile camera supports tense and de...
02/07/2026
Broadcast Solutions acquires BFE, expanding its lead in European broadcast, medi...
02/07/2026
Berklee Alum and Faculty Perform at Boston Public Library's 250th Anniversar...
02/07/2026
Broadcast Solutions GmbH, a leading systems integrator and provider of innovative solutions for the broadcast media industry, is acquiring BFE Studio und Medien...
02/07/2026
Cinegy GmbH, the premier provider of software-defined television technology, has extended the ingest facility at leading Brazilian sports company LiveMode, work...
02/07/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
02/07/2026
Standalone processors acknowledged for the innovation and value they bring to Pro AV
Cobalt Digital, a leading designer and manufacturer of signal processing ...
02/07/2026
Synamedia announced today the appointment of Dr Tzvi Gerstl as Chief Executive Officer. Paul Segre, who has served as CEO for the past six years, will transitio...
International Study Provides New Genetic Clue to Anorexia LA JOLLA, CA September 11, 2013 The largest DNA-sequencing study of anorexia nervosa has linked the eating disorder to variants in a gene coding for an enzyme that regulates cholesterol metabolism. The finding suggests that anorexia could be caused in part by a disruption in the normal processing of cholesterol, which may disrupt mood and eating behavior.
