Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa
Identifieur interne : 005071 ( Istex/Corpus ); précédent : 005070; suivant : 005072Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa
Auteurs : W. H. Irwin Mclean ; Pam Wood ; Alan D. Irvine ; Jan Von Der WerthSource :
- Experimental Dermatology [ 0906-6705 ] ; 2006-06.
Abstract
Hidradenitis suppurativa (HS) is a severe and debilitating skin condition that is relatively common in the population. In many cases, there is a strong family history showing autosomal dominant inheritance with incomplete penetrance. We identified several large kindreds from the United Kingdom and Ireland showing dominant transmission and carried out two genome‐wide scans by genetic linkage analysis with 400 closely spaced microsatellite markers. This resulted in the identification of two separate genetic loci that show statistically significant linkage with HS. Marker D19S414 gave a significant log‐of‐the‐odds (LOD) score of 3.66 in a single kindred and represents robust genetic linkage. Recombination with markers D19S911 and D19S1170 limited the interval to a 16.5‐Mb region on chromosome 19, containing at least 35 known or strongly predicted genes. Many of these are transcription factors thought to be involved in modulation of the immune system, which may be consistent with HS. Two additional kindreds did not map to this locus but instead showed linkage to marker D6S290, giving a maximum combined 2‐point LOD score of 4.0 with no recombination. Visible recombinants narrowed this disease interval to a 1.48‐Mb region between D6S440 and D6S441 on chromosome 6q25.1‐25.2 containing six genes. We have already screened a large number of exons in both loci for mutations without identifying any obvious mutations. The eventual identification of genes causing HS will shed light on the pathomechanisms underlying inherited forms of the disease and, ultimately, will set the scene for rational design of therapies aimed at treating the root causes of this disorder.
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DOI: 10.1111/j.0906-6705.2006.0436d.x
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In many cases, there is a strong family history showing autosomal dominant inheritance with incomplete penetrance. We identified several large kindreds from the United Kingdom and Ireland showing dominant transmission and carried out two genome‐wide scans by genetic linkage analysis with 400 closely spaced microsatellite markers. This resulted in the identification of two separate genetic loci that show statistically significant linkage with HS. Marker D19S414 gave a significant log‐of‐the‐odds (LOD) score of 3.66 in a single kindred and represents robust genetic linkage. Recombination with markers D19S911 and D19S1170 limited the interval to a 16.5‐Mb region on chromosome 19, containing at least 35 known or strongly predicted genes. Many of these are transcription factors thought to be involved in modulation of the immune system, which may be consistent with HS. Two additional kindreds did not map to this locus but instead showed linkage to marker D6S290, giving a maximum combined 2‐point LOD score of 4.0 with no recombination. Visible recombinants narrowed this disease interval to a 1.48‐Mb region between D6S440 and D6S441 on chromosome 6q25.1‐25.2 containing six genes. We have already screened a large number of exons in both loci for mutations without identifying any obvious mutations. The eventual identification of genes causing HS will shed light on the pathomechanisms underlying inherited forms of the disease and, ultimately, will set the scene for rational design of therapies aimed at treating the root causes of this disorder.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>hidradenitis</json:string><json:string>suppurativa</json:string><json:string>hidradenitis suppurativa</json:string><json:string>follicle</json:string><json:string>dermatology</json:string><json:string>apocrine</json:string><json:string>acne</json:string><json:string>inversa</json:string><json:string>dessau</json:string><json:string>infliximab</json:string><json:string>epithelium</json:string><json:string>acne inversa</json:string><json:string>bulge cells</json:string><json:string>hair follicle</json:string><json:string>apocrine glands</json:string><json:string>follicular</json:string><json:string>sinus</json:string><json:string>terminal hair follicles</json:string><json:string>follicular hyperkeratosis</json:string><json:string>medical treatment</json:string><json:string>consecutive patients</json:string><json:string>primary closure</json:string><json:string>epidermis</json:string><json:string>hidradenitis suppurativa foundation</json:string><json:string>sweat glands</json:string><json:string>immune system</json:string><json:string>adsc transplantation</json:string><json:string>clinical pharmacology</json:string><json:string>blackwell munksgaard</json:string><json:string>epidermal basal cells</json:string><json:string>bulge cell progeny</json:string><json:string>mouse models</json:string><json:string>universitaetsmedizin berlin</json:string><json:string>squamous cell carcinoma</json:string><json:string>psychological impact</json:string><json:string>axillary apocrine secretory cells</json:string><json:string>domestic animals</json:string><json:string>clinical picture</json:string><json:string>keratinized epithelium</json:string><json:string>germany acne inversa</json:string><json:string>lesional epidermis</json:string><json:string>sinus tracts</json:string><json:string>outcome measures</json:string><json:string>campus benjamin franklin</json:string><json:string>germany hidradenitis suppurativa inversa</json:string><json:string>surgical treatment options</json:string><json:string>critical review</json:string><json:string>late phases</json:string><json:string>skin areas</json:string><json:string>range years</json:string><json:string>inflamed lesions</json:string><json:string>clinical trial</json:string><json:string>root sheath</json:string><json:string>active drug</json:string><json:string>adverse effects</json:string><json:string>such cells</json:string><json:string>hair follicles</json:string></teeft></keywords><author><json:item><name>W. 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This resulted in the identification of two separate genetic loci that show statistically significant linkage with HS. Marker D19S414 gave a significant log‐of‐the‐odds (LOD) score of 3.66 in a single kindred and represents robust genetic linkage. Recombination with markers D19S911 and D19S1170 limited the interval to a 16.5‐Mb region on chromosome 19, containing at least 35 known or strongly predicted genes. Many of these are transcription factors thought to be involved in modulation of the immune system, which may be consistent with HS. Two additional kindreds did not map to this locus but instead showed linkage to marker D6S290, giving a maximum combined 2‐point LOD score of 4.0 with no recombination. Visible recombinants narrowed this disease interval to a 1.48‐Mb region between D6S440 and D6S441 on chromosome 6q25.1‐25.2 containing six genes. We have already screened a large number of exons in both loci for mutations without identifying any obvious mutations. 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H.</forename><surname>Irwin McLean</surname></persName><affiliation>Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK;</affiliation><note type="foot">Presenting author.</note></author><author xml:id="author-0001"><persName><forename type="first">Pam</forename><surname>Wood</surname></persName><affiliation>Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK;</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Alan D.</forename><surname>Irvine</surname></persName><affiliation>Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland;<address><country key="IE"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Jan</forename><surname>Von Der Werth</surname></persName><affiliation>Department of Dermatology, Conquest Hospital, Hastings, UK<address><country key="GB"></country></address></affiliation></author><idno type="istex">ABA5137A1169E67E2A3A91AA4963D8E978D5E776</idno><idno type="DOI">10.1111/j.0906-6705.2006.0436d.x</idno><idno type="unit">EXD436D</idno><idno type="toTypesetVersion">file:EXD.EXD436d.pdf</idno></analytic><monogr><title level="j" type="main">Experimental Dermatology</title><title level="j" type="alt">EXPERIMENTAL DERMATOLOGY</title><idno type="pISSN">0906-6705</idno><idno type="eISSN">1600-0625</idno><idno type="book-DOI">10.1111/(ISSN)1600-0625</idno><idno type="book-part-DOI">10.1111/exd.2006.15.issue-6</idno><idno type="product">EXD</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">15</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="479">479</biblScope><biblScope unit="page" to="479">479</biblScope><biblScope unit="page-count">1</biblScope><publisher>Blackwell Publishing Ltd/Inc.</publisher><pubPlace>Oxford, UK; Malden, USA</pubPlace><date type="published" when="2006-06"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><p>Hidradenitis suppurativa (HS) is a severe and debilitating skin condition that is relatively common in the population. In many cases, there is a strong family history showing autosomal dominant inheritance with incomplete penetrance. We identified several large kindreds from the United Kingdom and Ireland showing dominant transmission and carried out two genome‐wide scans by genetic linkage analysis with 400 closely spaced microsatellite markers.</p><p>This resulted in the identification of two separate genetic loci that show statistically significant linkage with HS. Marker D19S414 gave a significant log‐of‐the‐odds (LOD) score of 3.66 in a single kindred and represents robust genetic linkage. Recombination with markers D19S911 and D19S1170 limited the interval to a 16.5‐Mb region on chromosome 19, containing at least 35 known or strongly predicted genes. Many of these are transcription factors thought to be involved in modulation of the immune system, which may be consistent with HS. Two additional kindreds did not map to this locus but instead showed linkage to marker D6S290, giving a maximum combined 2‐point LOD score of 4.0 with no recombination. Visible recombinants narrowed this disease interval to a 1.48‐Mb region between D6S440 and D6S441 on chromosome 6q25.1‐25.2 containing six genes. We have already screened a large number of exons in both loci for mutations without identifying any obvious mutations.</p><p>The eventual identification of genes causing HS will shed light on the pathomechanisms underlying inherited forms of the disease and, ultimately, will set the scene for rational design of therapies aimed at treating the root causes of this disorder.</p></abstract><textClass><classCode scheme="tocHeading1">ABSTRACTS</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/ABA5137A1169E67E2A3A91AA4963D8E978D5E776/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley component found"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd/Inc.</publisherName><publisherLoc>Oxford, UK; Malden, USA</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1600-0625</doi><issn type="print">0906-6705</issn><issn type="electronic">1600-0625</issn><idGroup><id type="product" value="EXD"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="EXPERIMENTAL DERMATOLOGY">Experimental Dermatology</title></titleGroup></publicationMeta><publicationMeta level="part" position="06006"><doi origin="wiley">10.1111/exd.2006.15.issue-6</doi><numberingGroup><numbering type="journalVolume" number="15">15</numbering><numbering type="journalIssue" number="6">6</numbering></numberingGroup><coverDate startDate="2006-06">June 2006</coverDate></publicationMeta><publicationMeta level="unit" type="abstract" position="0047900" status="forIssue"><doi origin="wiley">10.1111/j.0906-6705.2006.0436d.x</doi><idGroup><id type="unit" value="EXD436D"></id></idGroup><countGroup><count type="pageTotal" number="1"></count></countGroup><titleGroup><title type="tocHeading1">ABSTRACTS</title></titleGroup><eventGroup><event type="firstOnline" date="2008-06-28"></event><event type="publishedOnlineFinalForm" date="2008-06-28"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.15 mode:FullText source:Header result:Header" date="2010-07-19"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-25"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-17"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="479">479</numbering><numbering type="pageLast" number="479">479</numbering></numberingGroup><linkGroup><link type="toTypesetVersion" href="file:EXD.EXD436d.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="0"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="0"></count><count type="wordTotal" number="4488"></count><count type="linksPubMed" number="0"></count><count type="linksCrossRef" number="0"></count></countGroup><titleGroup><title type="main">Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa</title><title type="shortAuthors">HSF Abstracts</title><title type="short">HSF Abstracts</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" noteRef="#fn1"><personName><givenNames>W. 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Two additional kindreds did not map to this locus but instead showed linkage to marker D6S290, giving a maximum combined 2‐point LOD score of 4.0 with no recombination. Visible recombinants narrowed this disease interval to a 1.48‐Mb region between D6S440 and D6S441 on chromosome 6q25.1‐25.2 containing six genes. We have already screened a large number of exons in both loci for mutations without identifying any obvious mutations.</p><p>The eventual identification of genes causing HS will shed light on the pathomechanisms underlying inherited forms of the disease and, ultimately, will set the scene for rational design of therapies aimed at treating the root causes of this disorder.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><label>*</label><p>Presenting author.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>HSF Abstracts</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa</title></titleInfo><name type="personal"><namePart type="given">W. H.</namePart><namePart type="family">Irwin McLean</namePart><affiliation>Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK;</affiliation><description>Presenting author.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pam</namePart><namePart type="family">Wood</namePart><affiliation>Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK;</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alan D.</namePart><namePart type="family">Irvine</namePart><affiliation>Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland;</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jan</namePart><namePart type="family">Von Der Werth</namePart><affiliation>Department of Dermatology, Conquest Hospital, Hastings, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="abstract" displayLabel="abstract"></genre><originInfo><publisher>Blackwell Publishing Ltd/Inc.</publisher><place><placeTerm type="text">Oxford, UK; Malden, USA</placeTerm></place><dateIssued encoding="w3cdtf">2006-06</dateIssued><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="words">4488</extent></physicalDescription><abstract lang="en">Hidradenitis suppurativa (HS) is a severe and debilitating skin condition that is relatively common in the population. In many cases, there is a strong family history showing autosomal dominant inheritance with incomplete penetrance. We identified several large kindreds from the United Kingdom and Ireland showing dominant transmission and carried out two genome‐wide scans by genetic linkage analysis with 400 closely spaced microsatellite markers. This resulted in the identification of two separate genetic loci that show statistically significant linkage with HS. Marker D19S414 gave a significant log‐of‐the‐odds (LOD) score of 3.66 in a single kindred and represents robust genetic linkage. Recombination with markers D19S911 and D19S1170 limited the interval to a 16.5‐Mb region on chromosome 19, containing at least 35 known or strongly predicted genes. Many of these are transcription factors thought to be involved in modulation of the immune system, which may be consistent with HS. Two additional kindreds did not map to this locus but instead showed linkage to marker D6S290, giving a maximum combined 2‐point LOD score of 4.0 with no recombination. Visible recombinants narrowed this disease interval to a 1.48‐Mb region between D6S440 and D6S441 on chromosome 6q25.1‐25.2 containing six genes. We have already screened a large number of exons in both loci for mutations without identifying any obvious mutations. The eventual identification of genes causing HS will shed light on the pathomechanisms underlying inherited forms of the disease and, ultimately, will set the scene for rational design of therapies aimed at treating the root causes of this disorder.</abstract><relatedItem type="host"><titleInfo><title>Experimental Dermatology</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0906-6705</identifier><identifier type="eISSN">1600-0625</identifier><identifier type="DOI">10.1111/(ISSN)1600-0625</identifier><identifier type="PublisherID">EXD</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>15</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>479</start><end>479</end><total>1</total></extent></part></relatedItem><identifier type="istex">ABA5137A1169E67E2A3A91AA4963D8E978D5E776</identifier><identifier type="DOI">10.1111/j.0906-6705.2006.0436d.x</identifier><identifier type="ArticleID">EXD436D</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Ltd/Inc.</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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