Haplotype Sharing Analysis Identifies a Retroviral dUTPase as Candidate Susceptibility Gene for Psoriasis
The psoriasis susceptibility locus 1 (PSORS1) mutation is assumed to reside within a region around human leukocyte antigen-C spanning 250 kb, termed risk haplotype (RH) 1/2. By re-analyzing a published data set with a previously developed method, the haplotype sharing statistic, we confirm localizat...
Gespeichert in:
| Veröffentlicht in: | Journal of investigative dermatology 2005-01, Vol.124 (1), p.99-102 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 102 |
|---|---|
| container_issue | 1 |
| container_start_page | 99 |
| container_title | Journal of investigative dermatology |
| container_volume | 124 |
| creator | Foerster, John Nolte, Ilja Junge, Judith Bruinenberg, Marcel Schweiger, Susann Spaar, Katja van der Steege, Gerrit Ehlert, Claudia Mulder, Marcel Kalscheuer, Vera Blumenthal-Barby, Elisa Winter, Jennifer Seeman, Petra Ständer, Markward Sterry, Wolfram te Meerman, Gerard |
| description | The psoriasis susceptibility locus 1 (PSORS1) mutation is assumed to reside within a region around human leukocyte antigen-C spanning 250 kb, termed risk haplotype (RH) 1/2. By re-analyzing a published data set with a previously developed method, the haplotype sharing statistic, we confirm localization of PSORS1 to the RH1 region and refine its location to marker M6S168. We replicate this result in an independent patient sample. The target region harbors fragments of a human endogenous retrovirus K (HERV-K) endogenous retrovirus. Two single-nucleotide polymorphisms with alleles differing between high- and low-risk haplotypes are located within the HERV-K dUTPase. One of these encodes a predicted non-conserved Glu–Arg exchange. The HERV-K dUTPase is expressed in peripheral blood and in normal as well as lesional psoriatic skin. Our results indicate that an endogenous retroviral dUTPase constitutes a candidate gene for the PSORS1 mutation. |
| doi_str_mv | 10.1111/j.0022-202X.2004.23504.x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_67378240</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0022202X15321102</els_id><sourcerecordid>67378240</sourcerecordid><originalsourceid>FETCH-LOGICAL-c539t-7d20050cbcadcddd2b8d9f8d73a4aefdefe31f60b72bfccef455d2e14ebdaf6f3</originalsourceid><addsrcrecordid>eNqFkU1v1DAQhi0EotvCX0AWEtyy-CNO4mNZQVupEhW0EjdrYo_Bq2wS7KTq_nuc7opKXOrD-PK8o5l5CKGcrXl-n7ZrxoQoBBM_14Kxci2kyvXhBVlxJWTB67J-SVb_oBNymtKWMV6VqnlNTriqVKmVXpFwCWM3TPsR6Y_fEEP_i5730O1TSPTKYT8FHzBRoN9xisN9iNBRd3d7AwkpJLqB3gUHU07PyeI4hTZ0YdrTC-yR-iHSmzTEALndG_LKQ5fw7fE_I3dfv9xuLovrbxdXm_Prwiqpp6J2eSHFbGvBWeecaBunfeNqCSWgd-hRcl-xthattxZ9qZQTyEtsHfjKyzPy8dB3jMOfGdNkdiGP1nXQ4zAnU9WybkTJngW51lLzqsng-__A7TDHfKVkBGey1EJVGWoOkI1DShG9GWPYQdwbzswizWzN4sMsPswizTxKMw85-u7Yf2536J6CR0sZ-HAEIFnofITehvTEVarRjVw2-nzgMN_3PmA0yQbsLboQ0U7GDeH5af4Cfsu4QA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>210349256</pqid></control><display><type>article</type><title>Haplotype Sharing Analysis Identifies a Retroviral dUTPase as Candidate Susceptibility Gene for Psoriasis</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Alma/SFX Local Collection</source><creator>Foerster, John ; Nolte, Ilja ; Junge, Judith ; Bruinenberg, Marcel ; Schweiger, Susann ; Spaar, Katja ; van der Steege, Gerrit ; Ehlert, Claudia ; Mulder, Marcel ; Kalscheuer, Vera ; Blumenthal-Barby, Elisa ; Winter, Jennifer ; Seeman, Petra ; Ständer, Markward ; Sterry, Wolfram ; te Meerman, Gerard</creator><creatorcontrib>Foerster, John ; Nolte, Ilja ; Junge, Judith ; Bruinenberg, Marcel ; Schweiger, Susann ; Spaar, Katja ; van der Steege, Gerrit ; Ehlert, Claudia ; Mulder, Marcel ; Kalscheuer, Vera ; Blumenthal-Barby, Elisa ; Winter, Jennifer ; Seeman, Petra ; Ständer, Markward ; Sterry, Wolfram ; te Meerman, Gerard</creatorcontrib><description>The psoriasis susceptibility locus 1 (PSORS1) mutation is assumed to reside within a region around human leukocyte antigen-C spanning 250 kb, termed risk haplotype (RH) 1/2. By re-analyzing a published data set with a previously developed method, the haplotype sharing statistic, we confirm localization of PSORS1 to the RH1 region and refine its location to marker M6S168. We replicate this result in an independent patient sample. The target region harbors fragments of a human endogenous retrovirus K (HERV-K) endogenous retrovirus. Two single-nucleotide polymorphisms with alleles differing between high- and low-risk haplotypes are located within the HERV-K dUTPase. One of these encodes a predicted non-conserved Glu–Arg exchange. The HERV-K dUTPase is expressed in peripheral blood and in normal as well as lesional psoriatic skin. Our results indicate that an endogenous retroviral dUTPase constitutes a candidate gene for the PSORS1 mutation.</description><identifier>ISSN: 0022-202X</identifier><identifier>EISSN: 1523-1747</identifier><identifier>DOI: 10.1111/j.0022-202X.2004.23504.x</identifier><identifier>PMID: 15654959</identifier><identifier>CODEN: JIDEAE</identifier><language>eng</language><publisher>Danvers, MA: Elsevier Inc</publisher><subject>Biological and medical sciences ; Chromosomes, Human, Pair 6 ; Dermatology ; dUTPase ; Endogenous Retroviruses - genetics ; Genetic Predisposition to Disease - genetics ; haplotype sharing ; Haplotypes ; HERV ; HLA-C Antigens - genetics ; Human endogenous retrovirus K ; Humans ; Medical sciences ; Polymorphism, Single Nucleotide ; psoriasis ; Psoriasis - genetics ; Psoriasis. Parapsoriasis. Lichen ; PSORS1 ; Pyrophosphatases - genetics</subject><ispartof>Journal of investigative dermatology, 2005-01, Vol.124 (1), p.99-102</ispartof><rights>2005 The Society for Investigative Dermatology, Inc</rights><rights>2005 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Jan 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c539t-7d20050cbcadcddd2b8d9f8d73a4aefdefe31f60b72bfccef455d2e14ebdaf6f3</citedby><cites>FETCH-LOGICAL-c539t-7d20050cbcadcddd2b8d9f8d73a4aefdefe31f60b72bfccef455d2e14ebdaf6f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,4010,27900,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16589830$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15654959$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Foerster, John</creatorcontrib><creatorcontrib>Nolte, Ilja</creatorcontrib><creatorcontrib>Junge, Judith</creatorcontrib><creatorcontrib>Bruinenberg, Marcel</creatorcontrib><creatorcontrib>Schweiger, Susann</creatorcontrib><creatorcontrib>Spaar, Katja</creatorcontrib><creatorcontrib>van der Steege, Gerrit</creatorcontrib><creatorcontrib>Ehlert, Claudia</creatorcontrib><creatorcontrib>Mulder, Marcel</creatorcontrib><creatorcontrib>Kalscheuer, Vera</creatorcontrib><creatorcontrib>Blumenthal-Barby, Elisa</creatorcontrib><creatorcontrib>Winter, Jennifer</creatorcontrib><creatorcontrib>Seeman, Petra</creatorcontrib><creatorcontrib>Ständer, Markward</creatorcontrib><creatorcontrib>Sterry, Wolfram</creatorcontrib><creatorcontrib>te Meerman, Gerard</creatorcontrib><title>Haplotype Sharing Analysis Identifies a Retroviral dUTPase as Candidate Susceptibility Gene for Psoriasis</title><title>Journal of investigative dermatology</title><addtitle>J Invest Dermatol</addtitle><description>The psoriasis susceptibility locus 1 (PSORS1) mutation is assumed to reside within a region around human leukocyte antigen-C spanning 250 kb, termed risk haplotype (RH) 1/2. By re-analyzing a published data set with a previously developed method, the haplotype sharing statistic, we confirm localization of PSORS1 to the RH1 region and refine its location to marker M6S168. We replicate this result in an independent patient sample. The target region harbors fragments of a human endogenous retrovirus K (HERV-K) endogenous retrovirus. Two single-nucleotide polymorphisms with alleles differing between high- and low-risk haplotypes are located within the HERV-K dUTPase. One of these encodes a predicted non-conserved Glu–Arg exchange. The HERV-K dUTPase is expressed in peripheral blood and in normal as well as lesional psoriatic skin. Our results indicate that an endogenous retroviral dUTPase constitutes a candidate gene for the PSORS1 mutation.</description><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 6</subject><subject>Dermatology</subject><subject>dUTPase</subject><subject>Endogenous Retroviruses - genetics</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>haplotype sharing</subject><subject>Haplotypes</subject><subject>HERV</subject><subject>HLA-C Antigens - genetics</subject><subject>Human endogenous retrovirus K</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Polymorphism, Single Nucleotide</subject><subject>psoriasis</subject><subject>Psoriasis - genetics</subject><subject>Psoriasis. Parapsoriasis. Lichen</subject><subject>PSORS1</subject><subject>Pyrophosphatases - genetics</subject><issn>0022-202X</issn><issn>1523-1747</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkU1v1DAQhi0EotvCX0AWEtyy-CNO4mNZQVupEhW0EjdrYo_Bq2wS7KTq_nuc7opKXOrD-PK8o5l5CKGcrXl-n7ZrxoQoBBM_14Kxci2kyvXhBVlxJWTB67J-SVb_oBNymtKWMV6VqnlNTriqVKmVXpFwCWM3TPsR6Y_fEEP_i5730O1TSPTKYT8FHzBRoN9xisN9iNBRd3d7AwkpJLqB3gUHU07PyeI4hTZ0YdrTC-yR-iHSmzTEALndG_LKQ5fw7fE_I3dfv9xuLovrbxdXm_Prwiqpp6J2eSHFbGvBWeecaBunfeNqCSWgd-hRcl-xthattxZ9qZQTyEtsHfjKyzPy8dB3jMOfGdNkdiGP1nXQ4zAnU9WybkTJngW51lLzqsng-__A7TDHfKVkBGey1EJVGWoOkI1DShG9GWPYQdwbzswizWzN4sMsPswizTxKMw85-u7Yf2536J6CR0sZ-HAEIFnofITehvTEVarRjVw2-nzgMN_3PmA0yQbsLboQ0U7GDeH5af4Cfsu4QA</recordid><startdate>200501</startdate><enddate>200501</enddate><creator>Foerster, John</creator><creator>Nolte, Ilja</creator><creator>Junge, Judith</creator><creator>Bruinenberg, Marcel</creator><creator>Schweiger, Susann</creator><creator>Spaar, Katja</creator><creator>van der Steege, Gerrit</creator><creator>Ehlert, Claudia</creator><creator>Mulder, Marcel</creator><creator>Kalscheuer, Vera</creator><creator>Blumenthal-Barby, Elisa</creator><creator>Winter, Jennifer</creator><creator>Seeman, Petra</creator><creator>Ständer, Markward</creator><creator>Sterry, Wolfram</creator><creator>te Meerman, Gerard</creator><general>Elsevier Inc</general><general>Nature Publishing</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7U9</scope><scope>7X8</scope></search><sort><creationdate>200501</creationdate><title>Haplotype Sharing Analysis Identifies a Retroviral dUTPase as Candidate Susceptibility Gene for Psoriasis</title><author>Foerster, John ; Nolte, Ilja ; Junge, Judith ; Bruinenberg, Marcel ; Schweiger, Susann ; Spaar, Katja ; van der Steege, Gerrit ; Ehlert, Claudia ; Mulder, Marcel ; Kalscheuer, Vera ; Blumenthal-Barby, Elisa ; Winter, Jennifer ; Seeman, Petra ; Ständer, Markward ; Sterry, Wolfram ; te Meerman, Gerard</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c539t-7d20050cbcadcddd2b8d9f8d73a4aefdefe31f60b72bfccef455d2e14ebdaf6f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 6</topic><topic>Dermatology</topic><topic>dUTPase</topic><topic>Endogenous Retroviruses - genetics</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>haplotype sharing</topic><topic>Haplotypes</topic><topic>HERV</topic><topic>HLA-C Antigens - genetics</topic><topic>Human endogenous retrovirus K</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Polymorphism, Single Nucleotide</topic><topic>psoriasis</topic><topic>Psoriasis - genetics</topic><topic>Psoriasis. Parapsoriasis. Lichen</topic><topic>PSORS1</topic><topic>Pyrophosphatases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Foerster, John</creatorcontrib><creatorcontrib>Nolte, Ilja</creatorcontrib><creatorcontrib>Junge, Judith</creatorcontrib><creatorcontrib>Bruinenberg, Marcel</creatorcontrib><creatorcontrib>Schweiger, Susann</creatorcontrib><creatorcontrib>Spaar, Katja</creatorcontrib><creatorcontrib>van der Steege, Gerrit</creatorcontrib><creatorcontrib>Ehlert, Claudia</creatorcontrib><creatorcontrib>Mulder, Marcel</creatorcontrib><creatorcontrib>Kalscheuer, Vera</creatorcontrib><creatorcontrib>Blumenthal-Barby, Elisa</creatorcontrib><creatorcontrib>Winter, Jennifer</creatorcontrib><creatorcontrib>Seeman, Petra</creatorcontrib><creatorcontrib>Ständer, Markward</creatorcontrib><creatorcontrib>Sterry, Wolfram</creatorcontrib><creatorcontrib>te Meerman, Gerard</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of investigative dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Foerster, John</au><au>Nolte, Ilja</au><au>Junge, Judith</au><au>Bruinenberg, Marcel</au><au>Schweiger, Susann</au><au>Spaar, Katja</au><au>van der Steege, Gerrit</au><au>Ehlert, Claudia</au><au>Mulder, Marcel</au><au>Kalscheuer, Vera</au><au>Blumenthal-Barby, Elisa</au><au>Winter, Jennifer</au><au>Seeman, Petra</au><au>Ständer, Markward</au><au>Sterry, Wolfram</au><au>te Meerman, Gerard</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Haplotype Sharing Analysis Identifies a Retroviral dUTPase as Candidate Susceptibility Gene for Psoriasis</atitle><jtitle>Journal of investigative dermatology</jtitle><addtitle>J Invest Dermatol</addtitle><date>2005-01</date><risdate>2005</risdate><volume>124</volume><issue>1</issue><spage>99</spage><epage>102</epage><pages>99-102</pages><issn>0022-202X</issn><eissn>1523-1747</eissn><coden>JIDEAE</coden><abstract>The psoriasis susceptibility locus 1 (PSORS1) mutation is assumed to reside within a region around human leukocyte antigen-C spanning 250 kb, termed risk haplotype (RH) 1/2. By re-analyzing a published data set with a previously developed method, the haplotype sharing statistic, we confirm localization of PSORS1 to the RH1 region and refine its location to marker M6S168. We replicate this result in an independent patient sample. The target region harbors fragments of a human endogenous retrovirus K (HERV-K) endogenous retrovirus. Two single-nucleotide polymorphisms with alleles differing between high- and low-risk haplotypes are located within the HERV-K dUTPase. One of these encodes a predicted non-conserved Glu–Arg exchange. The HERV-K dUTPase is expressed in peripheral blood and in normal as well as lesional psoriatic skin. Our results indicate that an endogenous retroviral dUTPase constitutes a candidate gene for the PSORS1 mutation.</abstract><cop>Danvers, MA</cop><pub>Elsevier Inc</pub><pmid>15654959</pmid><doi>10.1111/j.0022-202X.2004.23504.x</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-202X |
| ispartof | Journal of investigative dermatology, 2005-01, Vol.124 (1), p.99-102 |
| issn | 0022-202X 1523-1747 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_67378240 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Biological and medical sciences Chromosomes, Human, Pair 6 Dermatology dUTPase Endogenous Retroviruses - genetics Genetic Predisposition to Disease - genetics haplotype sharing Haplotypes HERV HLA-C Antigens - genetics Human endogenous retrovirus K Humans Medical sciences Polymorphism, Single Nucleotide psoriasis Psoriasis - genetics Psoriasis. Parapsoriasis. Lichen PSORS1 Pyrophosphatases - genetics |
| title | Haplotype Sharing Analysis Identifies a Retroviral dUTPase as Candidate Susceptibility Gene for Psoriasis |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-10T08%3A59%3A22IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Haplotype%20Sharing%20Analysis%20Identifies%20a%20Retroviral%20dUTPase%20as%20Candidate%20Susceptibility%20Gene%20for%20Psoriasis&rft.jtitle=Journal%20of%20investigative%20dermatology&rft.au=Foerster,%20John&rft.date=2005-01&rft.volume=124&rft.issue=1&rft.spage=99&rft.epage=102&rft.pages=99-102&rft.issn=0022-202X&rft.eissn=1523-1747&rft.coden=JIDEAE&rft_id=info:doi/10.1111/j.0022-202X.2004.23504.x&rft_dat=%3Cproquest_cross%3E67378240%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=210349256&rft_id=info:pmid/15654959&rft_els_id=S0022202X15321102&rfr_iscdi=true |