AustralieFrV1, Main, Exploration, bibRecord, 009400

Prevalence of CARD15/NOD2 mutations in caucasian healthy people

Identifieur interne : 009400 ( Main/Exploration ); précédent : 009399; suivant : 009401

Prevalence of CARD15/NOD2 mutations in caucasian healthy people

Auteurs : Jean-Pierre Hugot [France] ; Isabelle Zaccaria [France] ; Juleen Cavanaugh [Australie] ; HUIYING YANG [États-Unis] ; Séverine Vermeire [Belgique] ; Maarit Lappalainen [Finlande] ; Stefan Schreiber [Allemagne] ; Vito Annese [Italie] ; Derek P. Jewell [Royaume-Uni] ; Elizabeth V. Fowler [Australie] ; Steven R. Brant [États-Unis] ; Mark S. Silverberg [Canada] ; Judy Cho [États-Unis] ; John D. Rioux [Canada, États-Unis] ; Jack Satsangi [Royaume-Uni] ; Miles Parkes [Royaume-Uni]

Source :

The American journal of gastroenterology [ 0002-9270 ] ; 2007.

RBID : Pascal:07-0314406

Descripteurs français

Pascal (Inist)
- Entérite Crohn, Prévalence, Mutation.

English descriptors

KwdEn :
- Crohn disease, Mutation, Prevalence.

Abstract

BACKGROUND: Crohn's disease (CD) has been associated with CARD15/NOD2 mutations in Caucasians. The R702W, G908R, and 1007fs mutations represent 82% of the mutated chromosomes. The relative risk of developing CD in homozygous or compound heterozygous people has been estimated as between 10 and 40 times that of the general population. This high risk may support the opinion that CARD15/NOD2 variants are strong CD risk factors at the individual and population levels. SUBJECTS AND The allele and genotype frequencies were calculated for the R702W, G908R, and 1007fs mutations METHODS: in 3,575 Caucasian healthy controls recruited by 15 groups distributed on three continents. Geographic homogeneity was tested and the observed proportion of double mutants was compared with the expected value using X² tests. RESULTS: The allele frequencies of the R702W, G908R, and 1007fs mutations were 4.3% (3.6-4.9), 1.2% (0.8-1.6), and 2.3% (1.8-2.8), respectively, with large geographic fluctuations of the G908R, 1007fs, and wild-type alleles (P < 0.0001). At the population level, no simple relationship was observed between mutation frequencies and the disease incidences in the studied populations. At the individual level, no significant deficit of double-dose mutation carriers among healthy controls was found, providing strong evidence that the penetrances of the most at-risk genotypes are low. CONCLUSION: Altogether, these data confirm that CARD15/NOD2 acts in interaction with other unknown risk cofactors.

Affiliations:

Allemagne, Australie, Belgique, Canada, Finlande, France, Italie, Royaume-Uni, États-Unis
Angleterre, Californie, Illinois, Maryland, Massachusetts, Ontario, Oxfordshire, Schleswig-Holstein, Uusimaa, Écosse, Île-de-France
Helsinki, Kiel, Oxford, Paris, Toronto, Édimbourg
Université d'Helsinki, Université d'Édimbourg, Université de Toronto

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 003B53
to stream PascalFrancis, to step Curation: 002535
to stream PascalFrancis, to step Checkpoint: 003690
to stream Main, to step Merge: 009E02
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Le document en format XML

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<author><name sortKey="Satsangi, Jack" sort="Satsangi, Jack" uniqKey="Satsangi J" first="Jack" last="Satsangi">Jack Satsangi</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Prevalence of CARD15/NOD2 mutations in caucasian healthy people</title>
<author><name sortKey="Hugot, Jean Pierre" sort="Hugot, Jean Pierre" uniqKey="Hugot J" first="Jean-Pierre" last="Hugot">Jean-Pierre Hugot</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM Avenir U763; AP-HP; Université Paris 7, Hopital Robert Debré</s1>
<s2>Paris</s2>
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<author><name sortKey="Zaccaria, Isabelle" sort="Zaccaria, Isabelle" uniqKey="Zaccaria I" first="Isabelle" last="Zaccaria">Isabelle Zaccaria</name>
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<author><name sortKey="Cavanaugh, Juleen" sort="Cavanaugh, Juleen" uniqKey="Cavanaugh J" first="Juleen" last="Cavanaugh">Juleen Cavanaugh</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Medical Genetics Research Unit, Medical School, Australian National University</s1>
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<wicri:noRegion>Canberra</wicri:noRegion>
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<author><name sortKey="Huiying Yang" sort="Huiying Yang" uniqKey="Huiying Yang" last="Huiying Yang">HUIYING YANG</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Medical Genetics Institute, Cedars-Sinai Medical Center, UCLA, School of Medicine</s1>
<s2>Los Angeles, California</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
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<author><name sortKey="Vermeire, Severine" sort="Vermeire, Severine" uniqKey="Vermeire S" first="Séverine" last="Vermeire">Séverine Vermeire</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Gastroenterology, University Hospital Gasthuisberg</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
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<author><name sortKey="Lappalainen, Maarit" sort="Lappalainen, Maarit" uniqKey="Lappalainen M" first="Maarit" last="Lappalainen">Maarit Lappalainen</name>
<affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Department of Medicine and Biomedicum Helsinki, University of Helsinki</s1>
<s2>Helsinki</s2>
<s3>FIN</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
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</affiliation>
</author>
<author><name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute for Clinical Molecular Biology, Christian-Albrechts-University</s1>
<s2>Kiel</s2>
<s3>DEU</s3>
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</inist:fA14>
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<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
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</placeName>
</affiliation>
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<author><name sortKey="Annese, Vito" sort="Annese, Vito" uniqKey="Annese V" first="Vito" last="Annese">Vito Annese</name>
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<s2>S.Giovanni Rotondo</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
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<author><name sortKey="Jewell, Derek P" sort="Jewell, Derek P" uniqKey="Jewell D" first="Derek P." last="Jewell">Derek P. Jewell</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Gastroenterology Unit, Radcliffe Infirmary</s1>
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<s3>GBR</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
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</placeName>
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<author><name sortKey="Fowler, Elizabeth V" sort="Fowler, Elizabeth V" uniqKey="Fowler E" first="Elizabeth V." last="Fowler">Elizabeth V. Fowler</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Crohn s and Colitis Laboratory, Royal Brisbane and Women s Hospital Research Foundation Clinical Research Centre, Queensland Institute of Medical Research</s1>
<s2>Brisbane</s2>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
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<author><name sortKey="Brant, Steven R" sort="Brant, Steven R" uniqKey="Brant S" first="Steven R." last="Brant">Steven R. Brant</name>
<affiliation wicri:level="2"><inist:fA14 i1="11"><s1>Harvey M. and Lyn P. Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, School of Medicine and Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University</s1>
<s2>Baltimore, Maryland</s2>
<s3>USA</s3>
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<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
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<author><name sortKey="Silverberg, Mark S" sort="Silverberg, Mark S" uniqKey="Silverberg M" first="Mark S." last="Silverberg">Mark S. Silverberg</name>
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<s2>Toronto</s2>
<s3>CAN</s3>
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</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Toronto</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
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<author><name sortKey="Cho, Judy" sort="Cho, Judy" uniqKey="Cho J" first="Judy" last="Cho">Judy Cho</name>
<affiliation wicri:level="2"><inist:fA14 i1="13"><s1>The Martin Boyer Genetics Research Laboratories, Gastroenterology Section, Department of Medicine, The University of Chicago Hospitals</s1>
<s2>Chicago, Illinois</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rioux, John D" sort="Rioux, John D" uniqKey="Rioux J" first="John D." last="Rioux">John D. Rioux</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Université de Montréal et l'Institut de Cardiologie de Montréal</s1>
<s2>Montreal, Québec</s2>
<s3>CAN</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Université de Montréal et l'Institut de Cardiologie de Montréal</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="15"><s1>The Broad Institute of MIT and Harvard</s1>
<s2>Cambridge, Massachusetts</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Satsangi, Jack" sort="Satsangi, Jack" uniqKey="Satsangi J" first="Jack" last="Satsangi">Jack Satsangi</name>
<affiliation wicri:level="4"><inist:fA14 i1="16"><s1>Gastrointestinal Unit, Western General Hospital, University of Edinburgh</s1>
<s2>Edinburgh</s2>
<s3>GBR</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
<settlement type="city">Édimbourg</settlement>
</placeName>
<orgName type="university">Université d'Édimbourg</orgName>
</affiliation>
</author>
<author><name sortKey="Parkes, Miles" sort="Parkes, Miles" uniqKey="Parkes M" first="Miles" last="Parkes">Miles Parkes</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Gastroenterology Unit, Addenbrooke 's Hospital</s1>
<s2>Cambridge</s2>
<s3>GBR</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">The American journal of gastroenterology</title>
<title level="j" type="abbreviated">Am. j. gastroenterol.</title>
<idno type="ISSN">0002-9270</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">The American journal of gastroenterology</title>
<title level="j" type="abbreviated">Am. j. gastroenterol.</title>
<idno type="ISSN">0002-9270</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Crohn disease</term>
<term>Mutation</term>
<term>Prevalence</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Entérite Crohn</term>
<term>Prévalence</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">BACKGROUND: Crohn's disease (CD) has been associated with CARD15/NOD2 mutations in Caucasians. The R702W, G908R, and 1007fs mutations represent 82% of the mutated chromosomes. The relative risk of developing CD in homozygous or compound heterozygous people has been estimated as between 10 and 40 times that of the general population. This high risk may support the opinion that CARD15/NOD2 variants are strong CD risk factors at the individual and population levels. SUBJECTS AND The allele and genotype frequencies were calculated for the R702W, G908R, and 1007fs mutations METHODS: in 3,575 Caucasian healthy controls recruited by 15 groups distributed on three continents. Geographic homogeneity was tested and the observed proportion of double mutants was compared with the expected value using X<sup>2</sup>
 tests. RESULTS: The allele frequencies of the R702W, G908R, and 1007fs mutations were 4.3% (3.6-4.9), 1.2% (0.8-1.6), and 2.3% (1.8-2.8), respectively, with large geographic fluctuations of the G908R, 1007fs, and wild-type alleles (P < 0.0001). At the population level, no simple relationship was observed between mutation frequencies and the disease incidences in the studied populations. At the individual level, no significant deficit of double-dose mutation carriers among healthy controls was found, providing strong evidence that the penetrances of the most at-risk genotypes are low. CONCLUSION: Altogether, these data confirm that CARD15/NOD2 acts in interaction with other unknown risk cofactors.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Canada</li>
<li>Finlande</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Californie</li>
<li>Illinois</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Ontario</li>
<li>Oxfordshire</li>
<li>Schleswig-Holstein</li>
<li>Uusimaa</li>
<li>Écosse</li>
<li>Île-de-France</li>
</region>
<settlement><li>Helsinki</li>
<li>Kiel</li>
<li>Oxford</li>
<li>Paris</li>
<li>Toronto</li>
<li>Édimbourg</li>
</settlement>
<orgName><li>Université d'Helsinki</li>
<li>Université d'Édimbourg</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Hugot, Jean Pierre" sort="Hugot, Jean Pierre" uniqKey="Hugot J" first="Jean-Pierre" last="Hugot">Jean-Pierre Hugot</name>
</region>
<name sortKey="Zaccaria, Isabelle" sort="Zaccaria, Isabelle" uniqKey="Zaccaria I" first="Isabelle" last="Zaccaria">Isabelle Zaccaria</name>
</country>
<country name="Australie"><noRegion><name sortKey="Cavanaugh, Juleen" sort="Cavanaugh, Juleen" uniqKey="Cavanaugh J" first="Juleen" last="Cavanaugh">Juleen Cavanaugh</name>
</noRegion>
<name sortKey="Fowler, Elizabeth V" sort="Fowler, Elizabeth V" uniqKey="Fowler E" first="Elizabeth V." last="Fowler">Elizabeth V. Fowler</name>
</country>
<country name="États-Unis"><region name="Californie"><name sortKey="Huiying Yang" sort="Huiying Yang" uniqKey="Huiying Yang" last="Huiying Yang">HUIYING YANG</name>
</region>
<name sortKey="Brant, Steven R" sort="Brant, Steven R" uniqKey="Brant S" first="Steven R." last="Brant">Steven R. Brant</name>
<name sortKey="Cho, Judy" sort="Cho, Judy" uniqKey="Cho J" first="Judy" last="Cho">Judy Cho</name>
<name sortKey="Rioux, John D" sort="Rioux, John D" uniqKey="Rioux J" first="John D." last="Rioux">John D. Rioux</name>
</country>
<country name="Belgique"><noRegion><name sortKey="Vermeire, Severine" sort="Vermeire, Severine" uniqKey="Vermeire S" first="Séverine" last="Vermeire">Séverine Vermeire</name>
</noRegion>
</country>
<country name="Finlande"><region name="Uusimaa"><name sortKey="Lappalainen, Maarit" sort="Lappalainen, Maarit" uniqKey="Lappalainen M" first="Maarit" last="Lappalainen">Maarit Lappalainen</name>
</region>
</country>
<country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name>
</region>
</country>
<country name="Italie"><noRegion><name sortKey="Annese, Vito" sort="Annese, Vito" uniqKey="Annese V" first="Vito" last="Annese">Vito Annese</name>
</noRegion>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Jewell, Derek P" sort="Jewell, Derek P" uniqKey="Jewell D" first="Derek P." last="Jewell">Derek P. Jewell</name>
</region>
<name sortKey="Parkes, Miles" sort="Parkes, Miles" uniqKey="Parkes M" first="Miles" last="Parkes">Miles Parkes</name>
<name sortKey="Satsangi, Jack" sort="Satsangi, Jack" uniqKey="Satsangi J" first="Jack" last="Satsangi">Jack Satsangi</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="Silverberg, Mark S" sort="Silverberg, Mark S" uniqKey="Silverberg M" first="Mark S." last="Silverberg">Mark S. Silverberg</name>
</region>
<name sortKey="Rioux, John D" sort="Rioux, John D" uniqKey="Rioux J" first="John D." last="Rioux">John D. Rioux</name>
</country>
</tree>
</affiliations>
</record>

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Prevalence of CARD15/NOD2 mutations in caucasian healthy people

Prevalence of CARD15/NOD2 mutations in caucasian healthy people

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