Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients
The genetic causes of essential tremor (ET) seem to be heterogeneous. Recently, ET has been found associated with a functional variant (Ser9Gly) of the dopamine D 3 receptor (DRD3), located in the ETM1 locus on chromosome 3q13.3 described for the first time in 1997. We examined this variant in three...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2009-06, Vol.17 (6), p.766-773 |
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| creator | Lorenz, Delia Klebe, Stephan Stevanin, Giovanni Thier, Sandra Nebel, Almut Feingold, Josué Frederiksen, Henrik Denis, Elodie Christensen, Kaare Schreiber, Stefan Brice, Alexis Deuschl, Günther Dürr, Alexandra |
| description | The genetic causes of essential tremor (ET) seem to be heterogeneous. Recently, ET has been found associated with a functional variant (Ser9Gly) of the dopamine D
3
receptor (DRD3), located in the ETM1 locus on chromosome 3q13.3 described for the first time in 1997. We examined this variant in three different populations from Germany, Denmark and France. We undertook an association study of the Ser9Gly variant in 202 cases with a familial history from unrelated families with ET, 97 cases with isolated non-familial ET and 528 healthy controls. In addition, linkage and segregation analyses were carried out in 22 ET families. The distribution of genotypes and allele frequencies showed no significant differences in the whole sample and in a subanalysis of familial and sporadic cases. Age at onset of tremor, tremor duration and tremor severity did not show an association with the genotype. In addition, the DRD3 variant was not found linked to the disease in a subset of informative ET families. We did not find a significant association of the DRD3 variant with ET nor linkage to the DRD3 receptor in German, Danish and French ET patients and families, suggesting that it is unlikely to be a causal factor for ET. |
| doi_str_mv | 10.1038/ejhg.2008.243 |
| format | Article |
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3
receptor (DRD3), located in the ETM1 locus on chromosome 3q13.3 described for the first time in 1997. We examined this variant in three different populations from Germany, Denmark and France. We undertook an association study of the Ser9Gly variant in 202 cases with a familial history from unrelated families with ET, 97 cases with isolated non-familial ET and 528 healthy controls. In addition, linkage and segregation analyses were carried out in 22 ET families. The distribution of genotypes and allele frequencies showed no significant differences in the whole sample and in a subanalysis of familial and sporadic cases. Age at onset of tremor, tremor duration and tremor severity did not show an association with the genotype. In addition, the DRD3 variant was not found linked to the disease in a subset of informative ET families. We did not find a significant association of the DRD3 variant with ET nor linkage to the DRD3 receptor in German, Danish and French ET patients and families, suggesting that it is unlikely to be a causal factor for ET.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/ejhg.2008.243</identifier><identifier>PMID: 19092771</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Bioinformatics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Chromosome 3 ; Chromosomes ; Curie, Marie (1867-1934) ; Cytogenetics ; Denmark ; Dopamine ; Dopamine D3 receptors ; Essential Tremor - ethnology ; Essential Tremor - genetics ; European Continental Ancestry Group - genetics ; Family medical history ; Female ; France ; Fundamental and applied biological sciences. Psychology ; Gene Expression ; Gene frequency ; General aspects. Genetic counseling ; Genetic Linkage ; Genetic Variation ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genotype ; Genotypes ; Germany ; Human Genetics ; Humans ; Investigations ; Kinases ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Molecular and cellular biology ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Pedigree ; Receptors, Dopamine D3 - genetics ; Tremor</subject><ispartof>European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.766-773</ispartof><rights>Macmillan Publishers Limited 2009</rights><rights>2009 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Jun 2009</rights><rights>Copyright © 2009 Macmillan Publishers Limited 2009 Macmillan Publishers Limited</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c512t-dea8500b2096cbead9145767291799b52aa97f79e023ad9c2a3575122b2d4cf23</citedby><cites>FETCH-LOGICAL-c512t-dea8500b2096cbead9145767291799b52aa97f79e023ad9c2a3575122b2d4cf23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947106/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947106/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,41467,42536,51298,53770,53772</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21431809$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19092771$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lorenz, Delia</creatorcontrib><creatorcontrib>Klebe, Stephan</creatorcontrib><creatorcontrib>Stevanin, Giovanni</creatorcontrib><creatorcontrib>Thier, Sandra</creatorcontrib><creatorcontrib>Nebel, Almut</creatorcontrib><creatorcontrib>Feingold, Josué</creatorcontrib><creatorcontrib>Frederiksen, Henrik</creatorcontrib><creatorcontrib>Denis, Elodie</creatorcontrib><creatorcontrib>Christensen, Kaare</creatorcontrib><creatorcontrib>Schreiber, Stefan</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><creatorcontrib>Deuschl, Günther</creatorcontrib><creatorcontrib>Dürr, Alexandra</creatorcontrib><title>Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><addtitle>Eur J Hum Genet</addtitle><description>The genetic causes of essential tremor (ET) seem to be heterogeneous. Recently, ET has been found associated with a functional variant (Ser9Gly) of the dopamine D
3
receptor (DRD3), located in the ETM1 locus on chromosome 3q13.3 described for the first time in 1997. We examined this variant in three different populations from Germany, Denmark and France. We undertook an association study of the Ser9Gly variant in 202 cases with a familial history from unrelated families with ET, 97 cases with isolated non-familial ET and 528 healthy controls. In addition, linkage and segregation analyses were carried out in 22 ET families. The distribution of genotypes and allele frequencies showed no significant differences in the whole sample and in a subanalysis of familial and sporadic cases. Age at onset of tremor, tremor duration and tremor severity did not show an association with the genotype. In addition, the DRD3 variant was not found linked to the disease in a subset of informative ET families. We did not find a significant association of the DRD3 variant with ET nor linkage to the DRD3 receptor in German, Danish and French ET patients and families, suggesting that it is unlikely to be a causal factor for ET.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alleles</subject><subject>Bioinformatics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Chromosome 3</subject><subject>Chromosomes</subject><subject>Curie, Marie (1867-1934)</subject><subject>Cytogenetics</subject><subject>Denmark</subject><subject>Dopamine</subject><subject>Dopamine D3 receptors</subject><subject>Essential Tremor - ethnology</subject><subject>Essential Tremor - genetics</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Family medical history</subject><subject>Female</subject><subject>France</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression</subject><subject>Gene frequency</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic Linkage</subject><subject>Genetic Variation</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Germany</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Investigations</subject><subject>Kinases</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Receptors, Dopamine D3 - genetics</subject><subject>Tremor</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkduL1DAUxoso7kUffZUg6JMdc2mb5EWQnd1VWPBFn8NpetrJ0KZj0hH87z3jDLsqgk855Pud61cULwRfCa7MO9xuhpXk3KxkpR4V56LSTVlXyjymmAtTVkaos-Ii5y3nJGrxtDgTlltJ4XnRrecdTCEiS-hxt8yJrRUbkD4gdgxzxrgEGNmScCIxRDZCGpBlTAEzm3t2i2mC-JatIYa8-ZV2kzD6DdvBEig9Pyue9DBmfH56L4uvN9dfrj6Wd59vP119uCt9LeRSdgim5ryV3Da-ReisqGrdaGmFtratJYDVvbbIpSLRS1C1pkzZyq7yvVSXxftj3d2-nbDz1DvB6HYpTJB-uBmC-1OJYeOG-buTttKCN1TgzalAmr_tMS9uCtnjOELEeZ8dzdIYSwf9Hyh5I5UyFYGv_gK38z5FuoKTQpumqc2hbXmEfJpzTtjfjyy4O7jsDi67g8uOXCb-5e97PtAnWwl4fQIgexj7BNGHfM9JUSlhuCVudeQySXHA9DDdvzv_BAQ_vys</recordid><startdate>20090601</startdate><enddate>20090601</enddate><creator>Lorenz, Delia</creator><creator>Klebe, Stephan</creator><creator>Stevanin, Giovanni</creator><creator>Thier, Sandra</creator><creator>Nebel, Almut</creator><creator>Feingold, Josué</creator><creator>Frederiksen, Henrik</creator><creator>Denis, Elodie</creator><creator>Christensen, Kaare</creator><creator>Schreiber, Stefan</creator><creator>Brice, Alexis</creator><creator>Deuschl, Günther</creator><creator>Dürr, Alexandra</creator><general>Springer International Publishing</general><general>Nature Publishing Group</general><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>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20090601</creationdate><title>Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients</title><author>Lorenz, Delia ; Klebe, Stephan ; Stevanin, Giovanni ; Thier, Sandra ; Nebel, Almut ; Feingold, Josué ; Frederiksen, Henrik ; Denis, Elodie ; Christensen, Kaare ; Schreiber, Stefan ; Brice, Alexis ; Deuschl, Günther ; Dürr, Alexandra</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c512t-dea8500b2096cbead9145767291799b52aa97f79e023ad9c2a3575122b2d4cf23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Alleles</topic><topic>Bioinformatics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Chromosome 3</topic><topic>Chromosomes</topic><topic>Curie, Marie (1867-1934)</topic><topic>Cytogenetics</topic><topic>Denmark</topic><topic>Dopamine</topic><topic>Dopamine D3 receptors</topic><topic>Essential Tremor - ethnology</topic><topic>Essential Tremor - genetics</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Family medical history</topic><topic>Female</topic><topic>France</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Expression</topic><topic>Gene frequency</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic Linkage</topic><topic>Genetic Variation</topic><topic>Genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Germany</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Investigations</topic><topic>Kinases</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular and cellular biology</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Receptors, Dopamine D3 - genetics</topic><topic>Tremor</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lorenz, Delia</creatorcontrib><creatorcontrib>Klebe, Stephan</creatorcontrib><creatorcontrib>Stevanin, Giovanni</creatorcontrib><creatorcontrib>Thier, Sandra</creatorcontrib><creatorcontrib>Nebel, Almut</creatorcontrib><creatorcontrib>Feingold, Josué</creatorcontrib><creatorcontrib>Frederiksen, Henrik</creatorcontrib><creatorcontrib>Denis, Elodie</creatorcontrib><creatorcontrib>Christensen, Kaare</creatorcontrib><creatorcontrib>Schreiber, Stefan</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><creatorcontrib>Deuschl, Günther</creatorcontrib><creatorcontrib>Dürr, Alexandra</creatorcontrib><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>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</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 Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science 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>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lorenz, Delia</au><au>Klebe, Stephan</au><au>Stevanin, Giovanni</au><au>Thier, Sandra</au><au>Nebel, Almut</au><au>Feingold, Josué</au><au>Frederiksen, Henrik</au><au>Denis, Elodie</au><au>Christensen, Kaare</au><au>Schreiber, Stefan</au><au>Brice, Alexis</au><au>Deuschl, Günther</au><au>Dürr, Alexandra</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients</atitle><jtitle>European journal of human genetics : EJHG</jtitle><stitle>Eur J Hum Genet</stitle><addtitle>Eur J Hum Genet</addtitle><date>2009-06-01</date><risdate>2009</risdate><volume>17</volume><issue>6</issue><spage>766</spage><epage>773</epage><pages>766-773</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>The genetic causes of essential tremor (ET) seem to be heterogeneous. Recently, ET has been found associated with a functional variant (Ser9Gly) of the dopamine D
3
receptor (DRD3), located in the ETM1 locus on chromosome 3q13.3 described for the first time in 1997. We examined this variant in three different populations from Germany, Denmark and France. We undertook an association study of the Ser9Gly variant in 202 cases with a familial history from unrelated families with ET, 97 cases with isolated non-familial ET and 528 healthy controls. In addition, linkage and segregation analyses were carried out in 22 ET families. The distribution of genotypes and allele frequencies showed no significant differences in the whole sample and in a subanalysis of familial and sporadic cases. Age at onset of tremor, tremor duration and tremor severity did not show an association with the genotype. In addition, the DRD3 variant was not found linked to the disease in a subset of informative ET families. We did not find a significant association of the DRD3 variant with ET nor linkage to the DRD3 receptor in German, Danish and French ET patients and families, suggesting that it is unlikely to be a causal factor for ET.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>19092771</pmid><doi>10.1038/ejhg.2008.243</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Alleles Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Chromosome 3 Chromosomes Curie, Marie (1867-1934) Cytogenetics Denmark Dopamine Dopamine D3 receptors Essential Tremor - ethnology Essential Tremor - genetics European Continental Ancestry Group - genetics Family medical history Female France Fundamental and applied biological sciences. Psychology Gene Expression Gene frequency General aspects. Genetic counseling Genetic Linkage Genetic Variation Genetics Genetics of eukaryotes. Biological and molecular evolution Genotype Genotypes Germany Human Genetics Humans Investigations Kinases Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Pedigree Receptors, Dopamine D3 - genetics Tremor |
| title | Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients |
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