gut health
IBD breakthroughs
UK researchers make landmark dis- predispose to either ulcerative colitis or Professor Christopher Mathew, King’s
coveries in the genetics of inflam- Crohn’s disease are involved in aspects
College London
matory bowel diseases
of regulation of the immune system. Dr Miles Parkes, Addenbrooke’s Hospi-
A UK multi-centre study published in
Finally, several genes which this team tal, Cambridge
the journal Nature Genetics identifies
have previously shown to be important Professor Derek Jewell, The Radcliffe
a new gene for ulcerative colitis – one
determinants in Crohn’s disease are Infirmary, Oxford
of the first to be confirmed for this
not implicated in ulcerative colitis – of Professor Jack Satsangi, Western Gen-
condition – and in a decisive break-
these Crohn’s disease-specific deter- eral Hospital, Edinburgh
through establishes a series of genetic
minants, NOD2/CARD15, ATG16L1 and
Dr John Mansfield, Royal Victoria Infir-
links between the inflammatory bowel
IRGM all affect the body’s ability to
mary, Newcastle upon Tyne
diseases (IBD), ulcerative colitis and
identify and deal with gut bacteria.
Dr Panos Deloukas, Wellcome Trust,
Crohn’s disease.
“This study represents another major
Sanger Institute, Hinxton, Cambridge
Since these are diseases of young
step forward in understanding the pro-
The UK IBD Genetics Group has
people involving debilitating pain,
cesses involved in the development of
been researching the genetics of in-
embarrassing symptoms, a high risk of
the inflammatory bowel diseases, and
flammatory bowel disease since 1992.
surgery and an increased risk of can-
extends last year’s success in Crohn’s
Having published numerous papers
cer, the researchers hope that these
disease genetics”, explains Professor
in this specialist area, this new study
findings will translate directly to safe
Jack Satsangi .
represents the latest progress in work
effective therapeutic strategies.
Professor Satsangi continues, “The
spanning over 16 years, and involving
The multi-centre UK IBD Genet-
results are of real importance to
more than 8,000 IBD patients.
ics team led jointly by Professor Jack
patients, physicians as well as scien-
The group gratefully acknowledges
Satsangi of Western General Hospital,
tists. The insights gained from these
the technical expertise of Dr Panos
University of Edinburgh; Professor Chris
genetic discoveries may lead to new
Deloukas’s team at the Wellcome
Mathew of King’s College London, and
treatment strategies, for individual
Trust, Sanger Institute. The Wellcome
Dr Miles Parkes of Addenbrooke’s Hos- patients. Moreover, for the first time, we
Trust Case Control Consortium kindly
pital, Cambridge found the new ulcer- are finding scientific evidence for the
assisted the study through design of
ative colitis gene, ECM1, and further relationship between Crohn’s disease
the genotyping array and the supply
showed that five other genes, which and ulcerative colitis, sharing some but
of control genotype data, and NACC
were previously shown to be involved not all susceptibility genes. These find-
wishes to acknowledge the generous
in Crohn’s disease, also predispose to ings provide a springboard for further
donation towards this project from the
ulcerative colitis. studies of IBD genetics, and for the
Rosetrees Trust.
Professor Satsangi explains, “This mechanisms whereby environmental

new study sheds more light on the factors interact with these genetic
Since 1984, NACC members have
underlying inherited factors that place determinants. We hope these findings
raised over £4.5 million and more
people at risk of developing ulcerative will translate directly to safe effective
than 100 research awards have
colitis, and with the discovery of the therapeutic strategies, by identifying
been made to hospitals and univer-
ECM1 gene involvement highlights the new drug targets.”
sities throughout the United King-
role of gut barrier function.” Director of NACC, Richard Driscoll
dom. NACC provides a valuable
Funded by the National Association explains, “Ulcerative colitis is a painful,
support network and information
for Colitis and Crohn’s disease (NACC), distressing and sometimes life-threaten-
resource for people and families
the study involved over 3,000 UK ing inflammatory bowel disease which
affected by colitis and Crohn’s
patients with ulcerative colitis and ap- affects up to 120,000 people in the UK.
disease as well as raising significant
plied new technologies for human ge- It is often diagnosed in young people
funds for research. The 70 local
nome scanning. As such it is the most who will require medication and medi-
NACC Groups across the UK enable
detailed investigation of ulcerative cal care for the rest of their lives. These
members to meet other people
colitis genetics in the world literature. findings will offer further encourage-
who have these illnesses and share
Three of the findings will be of great ment to everyone that real progress is
information and experiences.
impact on the direction of inflamma- being made into how ulcerative colitis
tory bowel research. Firstly, the new develops. NACC supports numerous
UC gene identified in this study, ECM1 medical research projects into IBD
encodes a protein which is implicated throughout the UK every year and we An overview of research into IBD is avail-
in maintaining the barrier function of are delighted that this study, our larg-
able on www.nacc.org.uk/content/research
the gut wall, and the finding suggests est medical grant to date, has yielded
The National Association for Colitis and
that an inherited defect in the gut such clear and positive results.”
Crohn’s Disease
Information Line 0845 130 2233
wall - a leaky gut - may predispose to Nature Genetics Publication Study
NACC in Contact Support Line: 0845 130 3344
ulcerative colitis. Secondly, the five Authors – UK IBD Genetics Group Mem- Website: www.nacc.org.uk & email:
genes which the investigators show to bers:
nacc@nacc.org.uk
20 NHDmag.com Aug/Sep ‘08 - issue 37
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