Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR
Identifieur interne : 000B79 ( Istex/Corpus ); précédent : 000B78; suivant : 000B80Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR
Auteurs : Cynthia Helms ; Nancy L. Saccone ; Li Cao ; Jil A. Wright. Daw ; Kai Cao ; Tony M. Hsu ; Patricia Taillon-Miller ; Shenghui Duan ; Derek Gordon ; Brandon Pierce ; Jurg Ott ; John Rice ; Marcelo A. Fernandez-Vina ; Pui-Yan Kwok ; Alan Menter ; Anne M. BowcockSource :
- Human Genetics [ 0340-6717 ] ; 2005-12-01.
Abstract
Abstract: Psoriasis is a complex inflammatory disease of the skin affecting 1–2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3′ introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1.
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DOI: 10.1007/s00439-005-0048-2
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Saccone</name><affiliation><mods:affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, Washington University School of Medicine, St. Louis, USA</mods:affiliation></affiliation></author><author><name sortKey="Cao, Li" sort="Cao, Li" uniqKey="Cao L" first="Li" last="Cao">Li Cao</name><affiliation><mods:affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</mods:affiliation></affiliation></author><author><name sortKey="Daw, Jil A Wright" sort="Daw, Jil A Wright" uniqKey="Daw J" first="Jil A. Wright." last="Daw">Jil A. Wright. Daw</name><affiliation><mods:affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</mods:affiliation></affiliation></author><author><name sortKey="Cao, Kai" sort="Cao, Kai" uniqKey="Cao K" first="Kai" last="Cao">Kai Cao</name><affiliation><mods:affiliation>Oncology Department, Georgetown University School of Medicine, Washington, DC, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Laboratory Medicine, The University of Texas M.D. Anderson, Cancer Center, Houston, TX, USA</mods:affiliation></affiliation></author><author><name sortKey="Hsu, Tony M" sort="Hsu, Tony M" uniqKey="Hsu T" first="Tony M." last="Hsu">Tony M. Hsu</name><affiliation><mods:affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</mods:affiliation></affiliation></author><author><name sortKey="Taillon Miller, Patricia" sort="Taillon Miller, Patricia" uniqKey="Taillon Miller P" first="Patricia" last="Taillon-Miller">Patricia Taillon-Miller</name><affiliation><mods:affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</mods:affiliation></affiliation></author><author><name sortKey="Duan, Shenghui" sort="Duan, Shenghui" uniqKey="Duan S" first="Shenghui" last="Duan">Shenghui Duan</name><affiliation><mods:affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</mods:affiliation></affiliation></author><author><name sortKey="Gordon, Derek" sort="Gordon, Derek" uniqKey="Gordon D" first="Derek" last="Gordon">Derek Gordon</name><affiliation><mods:affiliation>Laboratory of Statistical Genetics, The Rockeffer University, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Pierce, Brandon" sort="Pierce, Brandon" uniqKey="Pierce B" first="Brandon" last="Pierce">Brandon Pierce</name><affiliation><mods:affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</mods:affiliation></affiliation></author><author><name sortKey="Ott, Jurg" sort="Ott, Jurg" uniqKey="Ott J" first="Jurg" last="Ott">Jurg Ott</name><affiliation><mods:affiliation>Laboratory of Statistical Genetics, The Rockeffer University, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Rice, John" sort="Rice, John" uniqKey="Rice J" first="John" last="Rice">John Rice</name><affiliation><mods:affiliation>Department of Psychiatry, Washington University School of Medicine, St. Louis, USA</mods:affiliation></affiliation></author><author><name sortKey="Fernandez Vina, Marcelo A" sort="Fernandez Vina, Marcelo A" uniqKey="Fernandez Vina M" first="Marcelo A." last="Fernandez-Vina">Marcelo A. Fernandez-Vina</name><affiliation><mods:affiliation>Oncology Department, Georgetown University School of Medicine, Washington, DC, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Laboratory Medicine, The University of Texas M.D. Anderson, Cancer Center, Houston, TX, USA</mods:affiliation></affiliation></author><author><name sortKey="Kwok, Pui Yan" sort="Kwok, Pui Yan" uniqKey="Kwok P" first="Pui-Yan" last="Kwok">Pui-Yan Kwok</name><affiliation><mods:affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</mods:affiliation></affiliation></author><author><name sortKey="Menter, Alan" sort="Menter, Alan" uniqKey="Menter A" first="Alan" last="Menter">Alan Menter</name><affiliation><mods:affiliation>Department of Internal Medicine, Division of Dermatology, Baylor University Medical Center, Dallas, USA</mods:affiliation></affiliation></author><author><name sortKey="Bowcock, Anne M" sort="Bowcock, Anne M" uniqKey="Bowcock A" first="Anne M." last="Bowcock">Anne M. Bowcock</name><affiliation><mods:affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: bowcock@genetics.wustl.edu</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Genetics</title><title level="j" type="abbrev">Hum Genet</title><idno type="ISSN">0340-6717</idno><idno type="eISSN">1432-1203</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="2005-12-01">2005-12-01</date><biblScope unit="volume">118</biblScope><biblScope unit="issue">3-4</biblScope><biblScope unit="page" from="466">466</biblScope><biblScope unit="page" to="476">476</biblScope></imprint><idno type="ISSN">0340-6717</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: Psoriasis is a complex inflammatory disease of the skin affecting 1–2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3′ introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1.</div></front></TEI><istex><corpusName>springer-journals</corpusName><author><json:item><name>Cynthia Helms</name><affiliations><json:string>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</json:string></affiliations></json:item><json:item><name>Nancy L. Saccone</name><affiliations><json:string>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</json:string><json:string>Department of Psychiatry, Washington University School of Medicine, St. Louis, USA</json:string></affiliations></json:item><json:item><name>Li Cao</name><affiliations><json:string>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</json:string></affiliations></json:item><json:item><name>Jil A. Wright. Daw</name><affiliations><json:string>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</json:string></affiliations></json:item><json:item><name>Kai Cao</name><affiliations><json:string>Oncology Department, Georgetown University School of Medicine, Washington, DC, USA</json:string><json:string>Department of Laboratory Medicine, The University of Texas M.D. Anderson, Cancer Center, Houston, TX, USA</json:string></affiliations></json:item><json:item><name>Tony M. Hsu</name><affiliations><json:string>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</json:string></affiliations></json:item><json:item><name>Patricia Taillon-Miller</name><affiliations><json:string>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</json:string></affiliations></json:item><json:item><name>Shenghui Duan</name><affiliations><json:string>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</json:string></affiliations></json:item><json:item><name>Derek Gordon</name><affiliations><json:string>Laboratory of Statistical Genetics, The Rockeffer University, New York, USA</json:string></affiliations></json:item><json:item><name>Brandon Pierce</name><affiliations><json:string>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</json:string></affiliations></json:item><json:item><name>Jurg Ott</name><affiliations><json:string>Laboratory of Statistical Genetics, The Rockeffer University, New York, USA</json:string></affiliations></json:item><json:item><name>John Rice</name><affiliations><json:string>Department of Psychiatry, Washington University School of Medicine, St. Louis, USA</json:string></affiliations></json:item><json:item><name>Marcelo A. Fernandez-Vina</name><affiliations><json:string>Oncology Department, Georgetown University School of Medicine, Washington, DC, USA</json:string><json:string>Department of Laboratory Medicine, The University of Texas M.D. Anderson, Cancer Center, Houston, TX, USA</json:string></affiliations></json:item><json:item><name>Pui-Yan Kwok</name><affiliations><json:string>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</json:string></affiliations></json:item><json:item><name>Alan Menter</name><affiliations><json:string>Department of Internal Medicine, Division of Dermatology, Baylor University Medical Center, Dallas, USA</json:string></affiliations></json:item><json:item><name>Anne M. Bowcock</name><affiliations><json:string>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</json:string><json:string>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</json:string><json:string>E-mail: bowcock@genetics.wustl.edu</json:string></affiliations></json:item></author><articleId><json:string>48</json:string><json:string>s00439-005-0048-2</json:string></articleId><arkIstex>ark:/67375/VQC-K0L90Q5P-8</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>OriginalPaper</json:string></originalGenre><abstract>Abstract: Psoriasis is a complex inflammatory disease of the skin affecting 1–2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3′ introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1.</abstract><qualityIndicators><refBibsNative>false</refBibsNative><abstractWordCount>319</abstractWordCount><abstractCharCount>2083</abstractCharCount><keywordCount>0</keywordCount><score>10</score><pdfWordCount>6816</pdfWordCount><pdfCharCount>42578</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>11</pdfPageCount><pdfPageSize>595 x 785 pts</pdfPageSize></qualityIndicators><title>Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR</title><genre><json:string>research-article</json:string></genre><host><title>Human 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scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note><note>Original Investigation</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR</title><author xml:id="author-0000"><persName><forename type="first">Cynthia</forename><surname>Helms</surname></persName><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Nancy</forename><surname>Saccone</surname></persName><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation><affiliation>Department of Psychiatry, Washington University School of Medicine, St. Louis, USA</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Li</forename><surname>Cao</surname></persName><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Jil</forename><surname>Daw</surname></persName><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation></author><author xml:id="author-0004"><persName><forename type="first">Kai</forename><surname>Cao</surname></persName><affiliation>Oncology Department, Georgetown University School of Medicine, Washington, DC, USA</affiliation><affiliation>Department of Laboratory Medicine, The University of Texas M.D. Anderson, Cancer Center, Houston, TX, USA</affiliation></author><author xml:id="author-0005"><persName><forename type="first">Tony</forename><surname>Hsu</surname></persName><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation></author><author xml:id="author-0006"><persName><forename type="first">Patricia</forename><surname>Taillon-Miller</surname></persName><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation></author><author xml:id="author-0007"><persName><forename type="first">Shenghui</forename><surname>Duan</surname></persName><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation></author><author xml:id="author-0008"><persName><forename type="first">Derek</forename><surname>Gordon</surname></persName><affiliation>Laboratory of Statistical Genetics, The Rockeffer University, New York, USA</affiliation></author><author xml:id="author-0009"><persName><forename type="first">Brandon</forename><surname>Pierce</surname></persName><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation></author><author xml:id="author-0010"><persName><forename type="first">Jurg</forename><surname>Ott</surname></persName><affiliation>Laboratory of Statistical Genetics, The Rockeffer University, New York, USA</affiliation></author><author xml:id="author-0011"><persName><forename type="first">John</forename><surname>Rice</surname></persName><affiliation>Department of Psychiatry, Washington University School of Medicine, St. Louis, USA</affiliation></author><author xml:id="author-0012"><persName><forename type="first">Marcelo</forename><surname>Fernandez-Vina</surname></persName><affiliation>Oncology Department, Georgetown University School of Medicine, Washington, DC, USA</affiliation><affiliation>Department of Laboratory Medicine, The University of Texas M.D. Anderson, Cancer Center, Houston, TX, USA</affiliation></author><author xml:id="author-0013"><persName><forename type="first">Pui-Yan</forename><surname>Kwok</surname></persName><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation></author><author xml:id="author-0014"><persName><forename type="first">Alan</forename><surname>Menter</surname></persName><affiliation>Department of Internal Medicine, Division of Dermatology, Baylor University Medical Center, Dallas, USA</affiliation></author><author xml:id="author-0015" corresp="yes"><persName><forename type="first">Anne</forename><surname>Bowcock</surname></persName><email>bowcock@genetics.wustl.edu</email><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation></author><idno type="istex">16ACDE9BB85A6B093E6286E1EF225DCC0DA2A577</idno><idno type="ark">ark:/67375/VQC-K0L90Q5P-8</idno><idno type="DOI">10.1007/s00439-005-0048-2</idno><idno type="article-id">48</idno><idno type="article-id">s00439-005-0048-2</idno></analytic><monogr><title level="j">Human Genetics</title><title level="j" type="abbrev">Hum Genet</title><idno type="pISSN">0340-6717</idno><idno type="eISSN">1432-1203</idno><idno type="journal-ID">true</idno><idno type="issue-article-count">30</idno><idno type="volume-issue-count">6</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="2005-12-01"></date><biblScope unit="volume">118</biblScope><biblScope unit="issue">3-4</biblScope><biblScope unit="page" from="466">466</biblScope><biblScope unit="page" to="476">476</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2005-02-25</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Abstract: Psoriasis is a complex inflammatory disease of the skin affecting 1–2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3′ introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1.</p></abstract><textClass><keywords scheme="Journal Subject"><list><head>Biomedicine</head><item><term>Metabolic Diseases</term></item><item><term>Gene Function</term></item><item><term>Molecular Medicine</term></item><item><term>Human Genetics</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2005-02-25">Created</change><change when="2005-12-01">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2017-12-1">References added</change></revisionDesc></teiHeader></istex:fulltextTEI></fulltext><metadata><istex:metadataXml wicri:clean="corpus springer-journals not found" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//Springer-Verlag//DTD A++ V2.4//EN" URI="http://devel.springer.de/A++/V2.4/DTD/A++V2.4.dtd" 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VolumeType="Regular"><VolumeIDStart>118</VolumeIDStart><VolumeIDEnd>118</VolumeIDEnd><VolumeIssueCount>6</VolumeIssueCount></VolumeInfo><Issue IssueType="Combined" OutputMedium="All"><IssueInfo IssueType="Combined" TocLevels="0"><IssueIDStart>3</IssueIDStart><IssueIDEnd>4</IssueIDEnd><IssueArticleCount>30</IssueArticleCount><IssueHistory><OnlineDate><Year>2006</Year><Month>1</Month><Day>9</Day></OnlineDate><PrintDate><Year>2005</Year><Month>12</Month><Day>1</Day></PrintDate><CoverDate><Year>2005</Year><Month>12</Month></CoverDate></IssueHistory><IssueCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>2005</CopyrightYear></IssueCopyright></IssueInfo><Article ID="s00439-005-0048-2" OutputMedium="All"><ArticleInfo ArticleType="OriginalPaper" ContainsESM="Yes" Language="En" NumberingStyle="Unnumbered" TocLevels="0"><ArticleID>48</ArticleID><ArticleDOI>10.1007/s00439-005-0048-2</ArticleDOI><ArticleCitationID>466</ArticleCitationID><ArticleSequenceNumber>18</ArticleSequenceNumber><ArticleTitle Language="En">Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR</ArticleTitle><ArticleCategory>Original Investigation</ArticleCategory><ArticleFirstPage>466</ArticleFirstPage><ArticleLastPage>476</ArticleLastPage><ArticleHistory><RegistrationDate><Year>2005</Year><Month>8</Month><Day>5</Day></RegistrationDate><Received><Year>2005</Year><Month>2</Month><Day>25</Day></Received><Accepted><Year>2005</Year><Month>7</Month><Day>13</Day></Accepted><OnlineDate><Year>2005</Year><Month>10</Month><Day>19</Day></OnlineDate></ArticleHistory><ArticleCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>2005</CopyrightYear></ArticleCopyright><ArticleGrants Type="Regular"><MetadataGrant Grant="OpenAccess"></MetadataGrant><AbstractGrant Grant="OpenAccess"></AbstractGrant><BodyPDFGrant Grant="Restricted"></BodyPDFGrant><BodyHTMLGrant Grant="Restricted"></BodyHTMLGrant><BibliographyGrant Grant="Restricted"></BibliographyGrant><ESMGrant Grant="Restricted"></ESMGrant></ArticleGrants></ArticleInfo><ArticleHeader><AuthorGroup><Author AffiliationIDS="Aff1"><AuthorName DisplayOrder="Western"><GivenName>Cynthia</GivenName><FamilyName>Helms</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1 Aff3"><AuthorName DisplayOrder="Western"><GivenName>Nancy</GivenName><GivenName>L.</GivenName><FamilyName>Saccone</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1"><AuthorName DisplayOrder="Western"><GivenName>Li</GivenName><FamilyName>Cao</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1"><AuthorName DisplayOrder="Western"><GivenName>Jil</GivenName><GivenName>A.</GivenName><GivenName>Wright.</GivenName><FamilyName>Daw</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff4 Aff8"><AuthorName DisplayOrder="Western"><GivenName>Kai</GivenName><FamilyName>Cao</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff5"><AuthorName DisplayOrder="Western"><GivenName>Tony</GivenName><GivenName>M.</GivenName><FamilyName>Hsu</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff5"><AuthorName DisplayOrder="Western"><GivenName>Patricia</GivenName><FamilyName>Taillon-Miller</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff5"><AuthorName DisplayOrder="Western"><GivenName>Shenghui</GivenName><FamilyName>Duan</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff2"><AuthorName DisplayOrder="Western"><GivenName>Derek</GivenName><FamilyName>Gordon</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1"><AuthorName DisplayOrder="Western"><GivenName>Brandon</GivenName><FamilyName>Pierce</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff2"><AuthorName DisplayOrder="Western"><GivenName>Jurg</GivenName><FamilyName>Ott</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff3"><AuthorName DisplayOrder="Western"><GivenName>John</GivenName><FamilyName>Rice</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff4 Aff8" PresentAffiliationID="Aff8"><AuthorName DisplayOrder="Western"><GivenName>Marcelo</GivenName><GivenName>A.</GivenName><FamilyName>Fernandez-Vina</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff5"><AuthorName DisplayOrder="Western"><GivenName>Pui-Yan</GivenName><FamilyName>Kwok</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff6"><AuthorName DisplayOrder="Western"><GivenName>Alan</GivenName><FamilyName>Menter</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1 Aff5" CorrespondingAffiliationID="Aff1"><AuthorName DisplayOrder="Western"><GivenName>Anne</GivenName><GivenName>M.</GivenName><FamilyName>Bowcock</FamilyName></AuthorName><Contact><Phone>+1-314-7473261</Phone><Fax>+1-314-7472489</Fax><Email>bowcock@genetics.wustl.edu</Email></Contact></Author><Affiliation ID="Aff1"><OrgDivision>Department of Genetics</OrgDivision><OrgName>Washington University School of Medicine</OrgName><OrgAddress><Postbox>Box 8232</Postbox><Street>4566 Scott Avenue</Street><City>St. Louis</City><State>Missouri</State><Postcode>63110</Postcode><Country>USA</Country></OrgAddress></Affiliation><Affiliation ID="Aff2"><OrgDivision>Laboratory of Statistical Genetics</OrgDivision><OrgName>The Rockeffer University</OrgName><OrgAddress><City>New York</City><Country>USA</Country></OrgAddress></Affiliation><Affiliation ID="Aff3"><OrgDivision>Department of Psychiatry</OrgDivision><OrgName>Washington University School of Medicine</OrgName><OrgAddress><City>St. Louis</City><Country>USA</Country></OrgAddress></Affiliation><Affiliation ID="Aff4"><OrgDivision>Oncology Department</OrgDivision><OrgName>Georgetown University School of Medicine</OrgName><OrgAddress><City>Washington</City><State>DC</State><Country>USA</Country></OrgAddress></Affiliation><Affiliation ID="Aff5"><OrgDivision>Division of Dermatology, Department of Medicine</OrgDivision><OrgName>Washington University School of Medicine</OrgName><OrgAddress><City>St. Louis</City><Country>USA</Country></OrgAddress></Affiliation><Affiliation ID="Aff6"><OrgDivision>Department of Internal Medicine, Division of Dermatology</OrgDivision><OrgName>Baylor University Medical Center</OrgName><OrgAddress><City>Dallas</City><Country>USA</Country></OrgAddress></Affiliation><Affiliation ID="Aff7"><OrgDivision>Department of Pediatrics</OrgDivision><OrgName>Washington University School of Medicine</OrgName><OrgAddress><City>St. Louis</City><Country>USA</Country></OrgAddress></Affiliation><Affiliation ID="Aff8"><OrgDivision>Department of Laboratory Medicine</OrgDivision><OrgName>The University of Texas M.D. Anderson, Cancer Center</OrgName><OrgAddress><City>Houston</City><State>TX</State><Country>USA</Country></OrgAddress></Affiliation></AuthorGroup><Abstract ID="Abs1" Language="En"><Heading>Abstract</Heading><Para TextBreak="No">Psoriasis is a complex inflammatory disease of the skin affecting 1–2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3′ introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1.</Para></Abstract><ArticleNote Type="ESMHint"><Heading>Electronic Supplementary Material</Heading><SimplePara>Supplementary material is available for this article at <ExternalRef><RefSource>http://dx.doi.org/10.1007/s00439-005-0048-2</RefSource><RefTarget Address="http://dx.doi.org/10.1007/s00439-005-0048-2" TargetType="URL"></RefTarget></ExternalRef></SimplePara></ArticleNote></ArticleHeader><NoBody></NoBody></Article></Issue></Volume></Journal></Publisher></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR</title></titleInfo><name type="personal"><namePart type="given">Cynthia</namePart><namePart type="family">Helms</namePart><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nancy</namePart><namePart type="given">L.</namePart><namePart type="family">Saccone</namePart><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation><affiliation>Department of Psychiatry, Washington University School of Medicine, St. Louis, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Li</namePart><namePart type="family">Cao</namePart><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jil</namePart><namePart type="given">A.</namePart><namePart type="given">Wright.</namePart><namePart type="family">Daw</namePart><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kai</namePart><namePart type="family">Cao</namePart><affiliation>Oncology Department, Georgetown University School of Medicine, Washington, DC, USA</affiliation><affiliation>Department of Laboratory Medicine, The University of Texas M.D. Anderson, Cancer Center, Houston, TX, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tony</namePart><namePart type="given">M.</namePart><namePart type="family">Hsu</namePart><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Patricia</namePart><namePart type="family">Taillon-Miller</namePart><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shenghui</namePart><namePart type="family">Duan</namePart><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Derek</namePart><namePart type="family">Gordon</namePart><affiliation>Laboratory of Statistical Genetics, The Rockeffer University, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Brandon</namePart><namePart type="family">Pierce</namePart><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jurg</namePart><namePart type="family">Ott</namePart><affiliation>Laboratory of Statistical Genetics, The Rockeffer University, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Rice</namePart><affiliation>Department of Psychiatry, Washington University School of Medicine, St. Louis, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marcelo</namePart><namePart type="given">A.</namePart><namePart type="family">Fernandez-Vina</namePart><affiliation>Oncology Department, Georgetown University School of Medicine, Washington, DC, USA</affiliation><affiliation>Department of Laboratory Medicine, The University of Texas M.D. Anderson, Cancer Center, Houston, TX, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pui-Yan</namePart><namePart type="family">Kwok</namePart><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alan</namePart><namePart type="family">Menter</namePart><affiliation>Department of Internal Medicine, Division of Dermatology, Baylor University Medical Center, Dallas, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal" displayLabel="corresp"><namePart type="given">Anne</namePart><namePart type="given">M.</namePart><namePart type="family">Bowcock</namePart><affiliation>Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, 63110, St. Louis, Missouri, USA</affiliation><affiliation>Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, USA</affiliation><affiliation>E-mail: bowcock@genetics.wustl.edu</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="OriginalPaper" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</genre><originInfo><publisher>Springer-Verlag</publisher><place><placeTerm type="text">Berlin/Heidelberg</placeTerm></place><dateCreated encoding="w3cdtf">2005-02-25</dateCreated><dateIssued encoding="w3cdtf">2005-12-01</dateIssued><dateIssued encoding="w3cdtf">2005</dateIssued><copyrightDate encoding="w3cdtf">2005</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><abstract lang="en">Abstract: Psoriasis is a complex inflammatory disease of the skin affecting 1–2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3′ introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1.</abstract><note>Original Investigation</note><relatedItem type="host"><titleInfo><title>Human Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Hum Genet</title></titleInfo><genre type="journal" displayLabel="Archive Journal" authority="ISTEX" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><originInfo><publisher>Springer</publisher><dateIssued encoding="w3cdtf">2006-01-09</dateIssued><copyrightDate encoding="w3cdtf">2005</copyrightDate></originInfo><subject><genre>Biomedicine</genre><topic>Metabolic Diseases</topic><topic>Gene Function</topic><topic>Molecular Medicine</topic><topic>Human Genetics</topic></subject><identifier type="ISSN">0340-6717</identifier><identifier type="eISSN">1432-1203</identifier><identifier type="JournalID">439</identifier><identifier type="IssueArticleCount">30</identifier><identifier type="VolumeIssueCount">6</identifier><part><date>2005</date><detail type="volume"><number>118</number><caption>vol.</caption></detail><detail type="issue"><number>3-4</number><caption>no.</caption></detail><extent unit="pages"><start>466</start><end>476</end></extent></part><recordInfo><recordOrigin>Springer-Verlag, 2005</recordOrigin></recordInfo></relatedItem><identifier type="istex">16ACDE9BB85A6B093E6286E1EF225DCC0DA2A577</identifier><identifier type="ark">ark:/67375/VQC-K0L90Q5P-8</identifier><identifier type="DOI">10.1007/s00439-005-0048-2</identifier><identifier type="ArticleID">48</identifier><identifier type="ArticleID">s00439-005-0048-2</identifier><accessCondition type="use and reproduction" contentType="copyright">Springer-Verlag, 2005</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-3XSW68JL-F">springer</recordContentSource><recordOrigin>Springer-Verlag, 2005</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/16ACDE9BB85A6B093E6286E1EF225DCC0DA2A577/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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