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A prioritization analysis of disease association by data-mining of functional annotation of human genes

Identifieur interne : 005F05 ( Main/Exploration ); précédent : 005F04; suivant : 005F06

A prioritization analysis of disease association by data-mining of functional annotation of human genes

Auteurs : Takayuki Taniya [Japon] ; Susumu Tanaka [Japon] ; Yumi Yamaguchi-Kabata [Japon] ; Hideki Hanaoka [Japon] ; Chisato Yamasaki [Japon] ; Harutoshi Maekawa [Japon] ; Roberto A. Barrero [Australie] ; Boris Lenhard [Suède] ; Milton W. Datta [États-Unis] ; Mary Shimoyama [États-Unis] ; Roger Bumgarner [États-Unis] ; Ranajit Chakraborty [États-Unis] ; Ian Hopkinson [Royaume-Uni] ; LIBIN JIA [États-Unis] ; Winston Hide [Afrique du Sud] ; Charles Auffray [France] ; Shinsei Minoshima [Japon] ; Tadashi Imanishi [Japon] ; Takashi Gojobori [Japon]

Source :

RBID : Pascal:12-0107751

Descripteurs français

English descriptors

Abstract

Complex diseases result from contributions of multiple genes that act in concert through pathways. Here we present a method to prioritize novel candidates of disease-susceptibility genes depending on the biological similarities to the known disease-related genes. The extent of disease-susceptibility of a gene is prioritized by analyzing seven features of human genes captured in H-InvDB. Taking rheumatoid arthritis (RA) and prostate cancer (PC) as two examples, we evaluated the efficiency of our method. Highly scored genes obtained included TNFSF12 and OSM as candidate disease genes for RA and PC, respectively. Subsequent characterization of these genes based upon an extensive literature survey reinforced the validity of these highly scored genes as possible disease-susceptibility genes. Our approach, Prioritization ANalysis of Disease Association (PANDA), is an efficient and cost-effective method to narrow down a large set of genes into smaller subsets that are most likely to be involved in the disease pathogenesis.


Affiliations:


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Le document en format XML

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<s1>Biological Information Research Center, National Institute of Advanced Industrial Science and Technology, 2-4-7 Aomi</s1>
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<sZ>1 aut.</sZ>
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<author>
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<s3>JPN</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>Japon</country>
<placeName>
<settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
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<inist:fA14 i1="05">
<s1>C's Lab Co., Ltd., Yamate Bldg. 2F, 7-5-1 Hamamatsu-cho</s1>
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<s3>JPN</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<placeName>
<settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
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<author>
<name sortKey="Barrero, Roberto A" sort="Barrero, Roberto A" uniqKey="Barrero R" first="Roberto A." last="Barrero">Roberto A. Barrero</name>
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<inist:fA14 i1="06">
<s1>Centre for Comparative Genomics, Murdoch University, South Street</s1>
<s2>WA 6150</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>WA 6150</wicri:noRegion>
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<author>
<name sortKey="Lenhard, Boris" sort="Lenhard, Boris" uniqKey="Lenhard B" first="Boris" last="Lenhard">Boris Lenhard</name>
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<inist:fA14 i1="07">
<s1>Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius väg 35</s1>
<s2>171 77 Stockholm</s2>
<s3>SWE</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Suède</country>
<wicri:noRegion>171 77 Stockholm</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Datta, Milton W" sort="Datta, Milton W" uniqKey="Datta M" first="Milton W." last="Datta">Milton W. Datta</name>
<affiliation wicri:level="1">
<inist:fA14 i1="08">
<s1>Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, United Hospital, 333 N. Smith Ave</s1>
<s2>Minneapolis, MN</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Minneapolis, MN</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Shimoyama, Mary" sort="Shimoyama, Mary" uniqKey="Shimoyama M" first="Mary" last="Shimoyama">Mary Shimoyama</name>
<affiliation wicri:level="1">
<inist:fA14 i1="09">
<s1>Rat Genome Database and Human and Molecular Genetics Center, Medical College of Wisconsin, 8701 Watertown Plank Road</s1>
<s2>Milwaukee, WI 53226</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Milwaukee, WI 53226</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bumgarner, Roger" sort="Bumgarner, Roger" uniqKey="Bumgarner R" first="Roger" last="Bumgarner">Roger Bumgarner</name>
<affiliation wicri:level="4">
<inist:fA14 i1="10">
<s1>Center for Expression Arrays, Department of Microbiology, University of Washington, 262B Rosen</s1>
<s2>Seattle, WA 98195</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Seattle, WA 98195</wicri:noRegion>
<orgName type="university">Université de Washington</orgName>
<placeName>
<settlement type="city">Seattle</settlement>
<region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Chakraborty, Ranajit" sort="Chakraborty, Ranajit" uniqKey="Chakraborty R" first="Ranajit" last="Chakraborty">Ranajit Chakraborty</name>
<affiliation wicri:level="1">
<inist:fA14 i1="11">
<s1>Center for Computational Genomics, Institute of Investigative Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Blvd</s1>
<s2>Fort Worth, TX 76107</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Fort Worth, TX 76107</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="12">
<s1>Department of Forensic and Investigative Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Blvd.</s1>
<s2>Fort Worth, TX 76107</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Fort Worth, TX 76107</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Hopkinson, Ian" sort="Hopkinson, Ian" uniqKey="Hopkinson I" first="Ian" last="Hopkinson">Ian Hopkinson</name>
<affiliation wicri:level="1">
<inist:fA14 i1="13">
<s1>Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College Medical School, Rayne Building, University Street</s1>
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<s3>GBR</s3>
<sZ>13 aut.</sZ>
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<country>Royaume-Uni</country>
<wicri:noRegion>London WC1E 6JJ</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Libin Jia" sort="Libin Jia" uniqKey="Libin Jia" last="Libin Jia">LIBIN JIA</name>
<affiliation wicri:level="1">
<inist:fA14 i1="14">
<s1>National Cancer Institute, National Institutes of Health</s1>
<s2>Bethesda, MD 20892</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bethesda, MD 20892</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Hide, Winston" sort="Hide, Winston" uniqKey="Hide W" first="Winston" last="Hide">Winston Hide</name>
<affiliation wicri:level="1">
<inist:fA14 i1="15">
<s1>South African National Bioinformatics Institute, University Western Cape</s1>
<s2>Bellville 7535</s2>
<s3>ZAF</s3>
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</inist:fA14>
<country>Afrique du Sud</country>
<wicri:noRegion>Bellville 7535</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Auffray, Charles" sort="Auffray, Charles" uniqKey="Auffray C" first="Charles" last="Auffray">Charles Auffray</name>
<affiliation wicri:level="1">
<inist:fA14 i1="16">
<s1>Array s/IMAGE, Genexpress, Functional Genomics and Systems Biology for Health, LGN, UMR 7091-CNRS and Pierre and Marie Curie University, Paris VI</s1>
<s2>Villejuif</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>Villejuif</wicri:noRegion>
<wicri:noRegion>Paris VI</wicri:noRegion>
<wicri:noRegion>Villejuif</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Minoshima, Shinsei" sort="Minoshima, Shinsei" uniqKey="Minoshima S" first="Shinsei" last="Minoshima">Shinsei Minoshima</name>
<affiliation wicri:level="1">
<inist:fA14 i1="17">
<s1>Department of Medical Photobiology, Medical Photonics Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku</s1>
<s2>Hamamatsu, Shizuoka 431-3192</s2>
<s3>JPN</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<wicri:noRegion>Hamamatsu, Shizuoka 431-3192</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Imanishi, Tadashi" sort="Imanishi, Tadashi" uniqKey="Imanishi T" first="Tadashi" last="Imanishi">Tadashi Imanishi</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Biological Information Research Center, National Institute of Advanced Industrial Science and Technology, 2-4-7 Aomi</s1>
<s2>Koto-ku, Tokyo 135-0064</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<placeName>
<settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Gojobori, Takashi" sort="Gojobori, Takashi" uniqKey="Gojobori T" first="Takashi" last="Gojobori">Takashi Gojobori</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Biological Information Research Center, National Institute of Advanced Industrial Science and Technology, 2-4-7 Aomi</s1>
<s2>Koto-ku, Tokyo 135-0064</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<placeName>
<settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="18">
<s1>National Institute of Genetics, Center of Information Biology and DNA Data Bank of Japan, 1111 Yata</s1>
<s2>Mishima, Shizuoka 411-8540</s2>
<s3>JPN</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<wicri:noRegion>Mishima, Shizuoka 411-8540</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Genomics : (San Diego, Calif.)</title>
<title level="j" type="abbreviated">Genomics : (S. Diego Calif.)</title>
<idno type="ISSN">0888-7543</idno>
<imprint>
<date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Genomics : (San Diego, Calif.)</title>
<title level="j" type="abbreviated">Genomics : (S. Diego Calif.)</title>
<idno type="ISSN">0888-7543</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Association</term>
<term>Chronic</term>
<term>Data mining</term>
<term>Discriminant analysis</term>
<term>Functional annotation</term>
<term>Gene</term>
<term>Genomics</term>
<term>Human</term>
<term>Prostate cancer</term>
<term>Rheumatoid arthritis</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Association</term>
<term>Fouille donnée</term>
<term>Homme</term>
<term>Gène</term>
<term>Analyse discriminante</term>
<term>Génomique</term>
<term>Chronique</term>
<term>Polyarthrite rhumatoïde</term>
<term>Cancer de la prostate</term>
<term>Annotation fonctionnelle</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr">
<term>Association</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Complex diseases result from contributions of multiple genes that act in concert through pathways. Here we present a method to prioritize novel candidates of disease-susceptibility genes depending on the biological similarities to the known disease-related genes. The extent of disease-susceptibility of a gene is prioritized by analyzing seven features of human genes captured in H-InvDB. Taking rheumatoid arthritis (RA) and prostate cancer (PC) as two examples, we evaluated the efficiency of our method. Highly scored genes obtained included TNFSF12 and OSM as candidate disease genes for RA and PC, respectively. Subsequent characterization of these genes based upon an extensive literature survey reinforced the validity of these highly scored genes as possible disease-susceptibility genes. Our approach, Prioritization ANalysis of Disease Association (PANDA), is an efficient and cost-effective method to narrow down a large set of genes into smaller subsets that are most likely to be involved in the disease pathogenesis.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Afrique du Sud</li>
<li>Australie</li>
<li>France</li>
<li>Japon</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region>
<li>Région de Kantō</li>
<li>Washington (État)</li>
</region>
<settlement>
<li>Seattle</li>
<li>Tokyo</li>
</settlement>
<orgName>
<li>Université de Tokyo</li>
<li>Université de Washington</li>
</orgName>
</list>
<tree>
<country name="Japon">
<region name="Région de Kantō">
<name sortKey="Taniya, Takayuki" sort="Taniya, Takayuki" uniqKey="Taniya T" first="Takayuki" last="Taniya">Takayuki Taniya</name>
</region>
<name sortKey="Gojobori, Takashi" sort="Gojobori, Takashi" uniqKey="Gojobori T" first="Takashi" last="Gojobori">Takashi Gojobori</name>
<name sortKey="Gojobori, Takashi" sort="Gojobori, Takashi" uniqKey="Gojobori T" first="Takashi" last="Gojobori">Takashi Gojobori</name>
<name sortKey="Hanaoka, Hideki" sort="Hanaoka, Hideki" uniqKey="Hanaoka H" first="Hideki" last="Hanaoka">Hideki Hanaoka</name>
<name sortKey="Imanishi, Tadashi" sort="Imanishi, Tadashi" uniqKey="Imanishi T" first="Tadashi" last="Imanishi">Tadashi Imanishi</name>
<name sortKey="Maekawa, Harutoshi" sort="Maekawa, Harutoshi" uniqKey="Maekawa H" first="Harutoshi" last="Maekawa">Harutoshi Maekawa</name>
<name sortKey="Maekawa, Harutoshi" sort="Maekawa, Harutoshi" uniqKey="Maekawa H" first="Harutoshi" last="Maekawa">Harutoshi Maekawa</name>
<name sortKey="Minoshima, Shinsei" sort="Minoshima, Shinsei" uniqKey="Minoshima S" first="Shinsei" last="Minoshima">Shinsei Minoshima</name>
<name sortKey="Tanaka, Susumu" sort="Tanaka, Susumu" uniqKey="Tanaka S" first="Susumu" last="Tanaka">Susumu Tanaka</name>
<name sortKey="Taniya, Takayuki" sort="Taniya, Takayuki" uniqKey="Taniya T" first="Takayuki" last="Taniya">Takayuki Taniya</name>
<name sortKey="Yamaguchi Kabata, Yumi" sort="Yamaguchi Kabata, Yumi" uniqKey="Yamaguchi Kabata Y" first="Yumi" last="Yamaguchi-Kabata">Yumi Yamaguchi-Kabata</name>
<name sortKey="Yamasaki, Chisato" sort="Yamasaki, Chisato" uniqKey="Yamasaki C" first="Chisato" last="Yamasaki">Chisato Yamasaki</name>
<name sortKey="Yamasaki, Chisato" sort="Yamasaki, Chisato" uniqKey="Yamasaki C" first="Chisato" last="Yamasaki">Chisato Yamasaki</name>
</country>
<country name="Australie">
<noRegion>
<name sortKey="Barrero, Roberto A" sort="Barrero, Roberto A" uniqKey="Barrero R" first="Roberto A." last="Barrero">Roberto A. Barrero</name>
</noRegion>
</country>
<country name="Suède">
<noRegion>
<name sortKey="Lenhard, Boris" sort="Lenhard, Boris" uniqKey="Lenhard B" first="Boris" last="Lenhard">Boris Lenhard</name>
</noRegion>
</country>
<country name="États-Unis">
<noRegion>
<name sortKey="Datta, Milton W" sort="Datta, Milton W" uniqKey="Datta M" first="Milton W." last="Datta">Milton W. Datta</name>
</noRegion>
<name sortKey="Bumgarner, Roger" sort="Bumgarner, Roger" uniqKey="Bumgarner R" first="Roger" last="Bumgarner">Roger Bumgarner</name>
<name sortKey="Chakraborty, Ranajit" sort="Chakraborty, Ranajit" uniqKey="Chakraborty R" first="Ranajit" last="Chakraborty">Ranajit Chakraborty</name>
<name sortKey="Chakraborty, Ranajit" sort="Chakraborty, Ranajit" uniqKey="Chakraborty R" first="Ranajit" last="Chakraborty">Ranajit Chakraborty</name>
<name sortKey="Libin Jia" sort="Libin Jia" uniqKey="Libin Jia" last="Libin Jia">LIBIN JIA</name>
<name sortKey="Shimoyama, Mary" sort="Shimoyama, Mary" uniqKey="Shimoyama M" first="Mary" last="Shimoyama">Mary Shimoyama</name>
</country>
<country name="Royaume-Uni">
<noRegion>
<name sortKey="Hopkinson, Ian" sort="Hopkinson, Ian" uniqKey="Hopkinson I" first="Ian" last="Hopkinson">Ian Hopkinson</name>
</noRegion>
</country>
<country name="Afrique du Sud">
<noRegion>
<name sortKey="Hide, Winston" sort="Hide, Winston" uniqKey="Hide W" first="Winston" last="Hide">Winston Hide</name>
</noRegion>
</country>
<country name="France">
<noRegion>
<name sortKey="Auffray, Charles" sort="Auffray, Charles" uniqKey="Auffray C" first="Charles" last="Auffray">Charles Auffray</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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