Haplotype co-segregation with attention deficit-hyperactivity disorder in unrelated German multi-generation families.
Identifieur interne : 000423 ( PubMed/Checkpoint ); précédent : 000422; suivant : 000424Haplotype co-segregation with attention deficit-hyperactivity disorder in unrelated German multi-generation families.
Auteurs : Michelle K. Lin [Allemagne] ; Christine M. Freitag ; Andrea B. Schote ; Haukur Pálmason ; Christiane Seitz ; Tobias J. Renner ; Marcel Romanos ; Susanne Walitza ; Christian P. Jacob ; Andreas Reif ; Andreas Warnke ; Rita M. Cantor ; Klaus-Peter Lesch ; Jobst MeyerSource :
- American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [ 1552-485X ] ; 2013.
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Abstract
Complex disorders have proved to be elusive in the search for underlying genetic causes. In the presence of large multi-generation pedigrees with multiple affected individuals, heritable familial forms of the disorders can be postulated. Observations of particular chromosomal haplotypes shared among all affected individuals within pedigrees may reveal chromosomal regions, in which the disease-related genes may be located. Hence, the biochemical pathways involved in pathogenesis can be exposed. We have recruited eight large Attention Deficit-Hyperactivity Disorder (ADHD, OMIM: #143465) families of German descent. Densely spaced informative microsatellite markers with high heterozygosity rates were used to fine-map and haplotype chromosomal regions of interest in these families. In three subsets and one full family of the eight ADHD families, haplotypes co-segregating with ADHD-affected individuals were identified at chromosomes 1q25, 5q11-5q13, 9q31-9q32, and 18q11-18q21. Positive LOD scores supported these co-segregations. The existence of haplotypes co-segregating among affected individuals in large ADHD pedigrees suggests the existence of Mendelian forms of the disorder and that ADHD-related genes are located within these haplotypes. In depth sequencing of these haplotype regions can identify causative genetic mechanisms and will allow further insights into the clinico-genetics of this complex disorder.
DOI: 10.1002/ajmg.b.32192
PubMed: 24038763
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Lin</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurobehavioral Genetics, University of Trier, Institute of Psychobiology, Trier, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurobehavioral Genetics, University of Trier, Institute of Psychobiology, Trier</wicri:regionArea><wicri:noRegion>Trier</wicri:noRegion><orgName type="university">Université de Trèves</orgName><placeName><settlement type="city">Trèves (Allemagne)</settlement><region type="land" nuts="1">Rhénanie-Palatinat</region></placeName></affiliation></author><author><name sortKey="Freitag, Christine M" sort="Freitag, Christine M" uniqKey="Freitag C" first="Christine M" last="Freitag">Christine M. Freitag</name></author><author><name sortKey="Schote, Andrea B" sort="Schote, Andrea B" uniqKey="Schote A" first="Andrea B" last="Schote">Andrea B. Schote</name></author><author><name sortKey="Palmason, Haukur" sort="Palmason, Haukur" uniqKey="Palmason H" first="Haukur" last="Pálmason">Haukur Pálmason</name></author><author><name sortKey="Seitz, Christiane" sort="Seitz, Christiane" uniqKey="Seitz C" first="Christiane" last="Seitz">Christiane Seitz</name></author><author><name sortKey="Renner, Tobias J" sort="Renner, Tobias J" uniqKey="Renner T" first="Tobias J" last="Renner">Tobias J. Renner</name></author><author><name sortKey="Romanos, Marcel" sort="Romanos, Marcel" uniqKey="Romanos M" first="Marcel" last="Romanos">Marcel Romanos</name></author><author><name sortKey="Walitza, Susanne" sort="Walitza, Susanne" uniqKey="Walitza S" first="Susanne" last="Walitza">Susanne Walitza</name></author><author><name sortKey="Jacob, Christian P" sort="Jacob, Christian P" uniqKey="Jacob C" first="Christian P" last="Jacob">Christian P. Jacob</name></author><author><name sortKey="Reif, Andreas" sort="Reif, Andreas" uniqKey="Reif A" first="Andreas" last="Reif">Andreas Reif</name></author><author><name sortKey="Warnke, Andreas" sort="Warnke, Andreas" uniqKey="Warnke A" first="Andreas" last="Warnke">Andreas Warnke</name></author><author><name sortKey="Cantor, Rita M" sort="Cantor, Rita M" uniqKey="Cantor R" first="Rita M" last="Cantor">Rita M. Cantor</name></author><author><name sortKey="Lesch, Klaus Peter" sort="Lesch, Klaus Peter" uniqKey="Lesch K" first="Klaus-Peter" last="Lesch">Klaus-Peter Lesch</name></author><author><name sortKey="Meyer, Jobst" sort="Meyer, Jobst" uniqKey="Meyer J" first="Jobst" last="Meyer">Jobst Meyer</name></author></analytic><series><title level="j">American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics</title><idno type="eISSN">1552-485X</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Attention Deficit Disorder with Hyperactivity (genetics)</term><term>Chromosome Segregation (genetics)</term><term>Chromosomes, Human (genetics)</term><term>Family Characteristics</term><term>Genes, Dominant</term><term>Genetic Predisposition to Disease</term><term>Germany</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Lod Score</term><term>Models, Genetic</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Attention Deficit Disorder with Hyperactivity</term><term>Chromosome Segregation</term><term>Chromosomes, Human</term><term>Haplotypes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Family Characteristics</term><term>Genes, Dominant</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Lod Score</term><term>Models, Genetic</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Complex disorders have proved to be elusive in the search for underlying genetic causes. In the presence of large multi-generation pedigrees with multiple affected individuals, heritable familial forms of the disorders can be postulated. Observations of particular chromosomal haplotypes shared among all affected individuals within pedigrees may reveal chromosomal regions, in which the disease-related genes may be located. Hence, the biochemical pathways involved in pathogenesis can be exposed. We have recruited eight large Attention Deficit-Hyperactivity Disorder (ADHD, OMIM: #143465) families of German descent. Densely spaced informative microsatellite markers with high heterozygosity rates were used to fine-map and haplotype chromosomal regions of interest in these families. In three subsets and one full family of the eight ADHD families, haplotypes co-segregating with ADHD-affected individuals were identified at chromosomes 1q25, 5q11-5q13, 9q31-9q32, and 18q11-18q21. Positive LOD scores supported these co-segregations. The existence of haplotypes co-segregating among affected individuals in large ADHD pedigrees suggests the existence of Mendelian forms of the disorder and that ADHD-related genes are located within these haplotypes. In depth sequencing of these haplotype regions can identify causative genetic mechanisms and will allow further insights into the clinico-genetics of this complex disorder.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24038763</PMID><DateCreated><Year>2014</Year><Month>03</Month><Day>04</Day></DateCreated><DateCompleted><Year>2014</Year><Month>10</Month><Day>22</Day></DateCompleted><DateRevised><Year>2014</Year><Month>03</Month><Day>04</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-485X</ISSN><JournalIssue CitedMedium="Internet"><Volume>162B</Volume><Issue>8</Issue><PubDate><Year>2013</Year><Month>Dec</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics</Title><ISOAbbreviation>Am. J. Med. Genet. B Neuropsychiatr. Genet.</ISOAbbreviation></Journal><ArticleTitle>Haplotype co-segregation with attention deficit-hyperactivity disorder in unrelated German multi-generation families.</ArticleTitle><Pagination><MedlinePgn>855-63</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.b.32192</ELocationID><Abstract><AbstractText>Complex disorders have proved to be elusive in the search for underlying genetic causes. In the presence of large multi-generation pedigrees with multiple affected individuals, heritable familial forms of the disorders can be postulated. Observations of particular chromosomal haplotypes shared among all affected individuals within pedigrees may reveal chromosomal regions, in which the disease-related genes may be located. Hence, the biochemical pathways involved in pathogenesis can be exposed. We have recruited eight large Attention Deficit-Hyperactivity Disorder (ADHD, OMIM: #143465) families of German descent. Densely spaced informative microsatellite markers with high heterozygosity rates were used to fine-map and haplotype chromosomal regions of interest in these families. In three subsets and one full family of the eight ADHD families, haplotypes co-segregating with ADHD-affected individuals were identified at chromosomes 1q25, 5q11-5q13, 9q31-9q32, and 18q11-18q21. Positive LOD scores supported these co-segregations. The existence of haplotypes co-segregating among affected individuals in large ADHD pedigrees suggests the existence of Mendelian forms of the disorder and that ADHD-related genes are located within these haplotypes. In depth sequencing of these haplotype regions can identify causative genetic mechanisms and will allow further insights into the clinico-genetics of this complex disorder.</AbstractText><CopyrightInformation>© 2013 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lin</LastName><ForeName>Michelle K</ForeName><Initials>MK</Initials><AffiliationInfo><Affiliation>Department of Neurobehavioral Genetics, University of Trier, Institute of Psychobiology, Trier, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Freitag</LastName><ForeName>Christine M</ForeName><Initials>CM</Initials></Author><Author ValidYN="Y"><LastName>Schote</LastName><ForeName>Andrea B</ForeName><Initials>AB</Initials></Author><Author ValidYN="Y"><LastName>Pálmason</LastName><ForeName>Haukur</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Seitz</LastName><ForeName>Christiane</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Renner</LastName><ForeName>Tobias J</ForeName><Initials>TJ</Initials></Author><Author ValidYN="Y"><LastName>Romanos</LastName><ForeName>Marcel</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Walitza</LastName><ForeName>Susanne</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Jacob</LastName><ForeName>Christian P</ForeName><Initials>CP</Initials></Author><Author ValidYN="Y"><LastName>Reif</LastName><ForeName>Andreas</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Warnke</LastName><ForeName>Andreas</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Cantor</LastName><ForeName>Rita M</ForeName><Initials>RM</Initials></Author><Author ValidYN="Y"><LastName>Lesch</LastName><ForeName>Klaus-Peter</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Meyer</LastName><ForeName>Jobst</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>09</Month><Day>03</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet B Neuropsychiatr Genet</MedlineTA><NlmUniqueID>101235742</NlmUniqueID><ISSNLinking>1552-4841</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D001289" MajorTopicYN="N">Attention Deficit Disorder with Hyperactivity</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020090" MajorTopicYN="N">Chromosome Segregation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002877" MajorTopicYN="N">Chromosomes, Human</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005191" MajorTopicYN="Y">Family Characteristics</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005799" MajorTopicYN="N">Genes, Dominant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="Y">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005858" MajorTopicYN="N" Type="Geographic">Germany</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008126" MajorTopicYN="N">Lod Score</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008957" MajorTopicYN="N">Models, Genetic</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ADHD</Keyword><Keyword MajorTopicYN="N">Mendelian</Keyword><Keyword MajorTopicYN="N">co-segregation</Keyword><Keyword MajorTopicYN="N">haplotypes</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>10</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>07</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>9</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>9</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>10</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24038763</ArticleId><ArticleId IdType="doi">10.1002/ajmg.b.32192</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>Rhénanie-Palatinat</li></region><settlement><li>Trèves (Allemagne)</li></settlement><orgName><li>Université de Trèves</li></orgName></list><tree><noCountry><name sortKey="Cantor, Rita M" sort="Cantor, Rita M" uniqKey="Cantor R" first="Rita M" last="Cantor">Rita M. Cantor</name><name sortKey="Freitag, Christine M" sort="Freitag, Christine M" uniqKey="Freitag C" first="Christine M" last="Freitag">Christine M. Freitag</name><name sortKey="Jacob, Christian P" sort="Jacob, Christian P" uniqKey="Jacob C" first="Christian P" last="Jacob">Christian P. Jacob</name><name sortKey="Lesch, Klaus Peter" sort="Lesch, Klaus Peter" uniqKey="Lesch K" first="Klaus-Peter" last="Lesch">Klaus-Peter Lesch</name><name sortKey="Meyer, Jobst" sort="Meyer, Jobst" uniqKey="Meyer J" first="Jobst" last="Meyer">Jobst Meyer</name><name sortKey="Palmason, Haukur" sort="Palmason, Haukur" uniqKey="Palmason H" first="Haukur" last="Pálmason">Haukur Pálmason</name><name sortKey="Reif, Andreas" sort="Reif, Andreas" uniqKey="Reif A" first="Andreas" last="Reif">Andreas Reif</name><name sortKey="Renner, Tobias J" sort="Renner, Tobias J" uniqKey="Renner T" first="Tobias J" last="Renner">Tobias J. Renner</name><name sortKey="Romanos, Marcel" sort="Romanos, Marcel" uniqKey="Romanos M" first="Marcel" last="Romanos">Marcel Romanos</name><name sortKey="Schote, Andrea B" sort="Schote, Andrea B" uniqKey="Schote A" first="Andrea B" last="Schote">Andrea B. Schote</name><name sortKey="Seitz, Christiane" sort="Seitz, Christiane" uniqKey="Seitz C" first="Christiane" last="Seitz">Christiane Seitz</name><name sortKey="Walitza, Susanne" sort="Walitza, Susanne" uniqKey="Walitza S" first="Susanne" last="Walitza">Susanne Walitza</name><name sortKey="Warnke, Andreas" sort="Warnke, Andreas" uniqKey="Warnke A" first="Andreas" last="Warnke">Andreas Warnke</name></noCountry><country name="Allemagne"><region name="Rhénanie-Palatinat"><name sortKey="Lin, Michelle K" sort="Lin, Michelle K" uniqKey="Lin M" first="Michelle K" last="Lin">Michelle K. Lin</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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