Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder.
Identifieur interne : 000075 ( PubMed/Corpus ); précédent : 000074; suivant : 000076Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder.
Auteurs : Thorsten M. Kranz ; Marnie Kopp ; Regina Waltes ; Michael Sachse ; Eftichia Duketis ; Tomasz A. Jarczok ; Franziska Degenhardt ; Katharina Görgen ; Jobst Meyer ; Christine M. Freitag ; Andreas G. ChiocchettiSource :
- Autism research : official journal of the International Society for Autism Research [ 1939-3806 ] ; 2016.
Abstract
Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01-1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview - revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). Autism Res 2016, 9: 1036-1045. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
DOI: 10.1002/aur.1597
PubMed: 26788924
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Kranz</name><affiliation><nlm:affiliation>Department of Neurobehavioral Genetics, University of Trier, Johanniterufer 15, Trier, D-54290, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Kopp, Marnie" sort="Kopp, Marnie" uniqKey="Kopp M" first="Marnie" last="Kopp">Marnie Kopp</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Waltes, Regina" sort="Waltes, Regina" uniqKey="Waltes R" first="Regina" last="Waltes">Regina Waltes</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Sachse, Michael" sort="Sachse, Michael" uniqKey="Sachse M" first="Michael" last="Sachse">Michael Sachse</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Duketis, Eftichia" sort="Duketis, Eftichia" uniqKey="Duketis E" first="Eftichia" last="Duketis">Eftichia Duketis</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Jarczok, Tomasz A" sort="Jarczok, Tomasz A" uniqKey="Jarczok T" first="Tomasz A" last="Jarczok">Tomasz A. 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Kranz</name><affiliation><nlm:affiliation>Department of Neurobehavioral Genetics, University of Trier, Johanniterufer 15, Trier, D-54290, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Kopp, Marnie" sort="Kopp, Marnie" uniqKey="Kopp M" first="Marnie" last="Kopp">Marnie Kopp</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Waltes, Regina" sort="Waltes, Regina" uniqKey="Waltes R" first="Regina" last="Waltes">Regina Waltes</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Sachse, Michael" sort="Sachse, Michael" uniqKey="Sachse M" first="Michael" last="Sachse">Michael Sachse</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Duketis, Eftichia" sort="Duketis, Eftichia" uniqKey="Duketis E" first="Eftichia" last="Duketis">Eftichia Duketis</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Jarczok, Tomasz A" sort="Jarczok, Tomasz A" uniqKey="Jarczok T" first="Tomasz A" last="Jarczok">Tomasz A. Jarczok</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Degenhardt, Franziska" sort="Degenhardt, Franziska" uniqKey="Degenhardt F" first="Franziska" last="Degenhardt">Franziska Degenhardt</name><affiliation><nlm:affiliation>Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, Bonn, D-53127, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Gorgen, Katharina" sort="Gorgen, Katharina" uniqKey="Gorgen K" first="Katharina" last="Görgen">Katharina Görgen</name><affiliation><nlm:affiliation>Department of Neurobehavioral Genetics, University of Trier, Johanniterufer 15, Trier, D-54290, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Meyer, Jobst" sort="Meyer, Jobst" uniqKey="Meyer J" first="Jobst" last="Meyer">Jobst Meyer</name><affiliation><nlm:affiliation>Department of Neurobehavioral Genetics, University of Trier, Johanniterufer 15, Trier, D-54290, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Freitag, Christine M" sort="Freitag, Christine M" uniqKey="Freitag C" first="Christine M" last="Freitag">Christine M. Freitag</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Chiocchetti, Andreas G" sort="Chiocchetti, Andreas G" uniqKey="Chiocchetti A" first="Andreas G" last="Chiocchetti">Andreas G. Chiocchetti</name><affiliation><nlm:affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany. andreas.chiocchetti@kgu.de.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Autism research : official journal of the International Society for Autism Research</title><idno type="eISSN">1939-3806</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01-1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview - revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). Autism Res 2016, 9: 1036-1045. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.</div></front></TEI><pubmed><MedlineCitation Status="In-Data-Review" Owner="NLM"><PMID Version="1">26788924</PMID><DateCreated><Year>2016</Year><Month>01</Month><Day>20</Day></DateCreated><DateRevised><Year>2016</Year><Month>10</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1939-3806</ISSN><JournalIssue CitedMedium="Internet"><Volume>9</Volume><Issue>10</Issue><PubDate><Year>2016</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Autism research : official journal of the International Society for Autism Research</Title><ISOAbbreviation>Autism Res</ISOAbbreviation></Journal><ArticleTitle>Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder.</ArticleTitle><Pagination><MedlinePgn>1036-1045</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/aur.1597</ELocationID><Abstract><AbstractText NlmCategory="UNASSIGNED">Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01-1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview - revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). Autism Res 2016, 9: 1036-1045. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.</AbstractText><CopyrightInformation>© 2016 International Society for Autism Research, Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kranz</LastName><ForeName>Thorsten M</ForeName><Initials>TM</Initials><AffiliationInfo><Affiliation>Department of Neurobehavioral Genetics, University of Trier, Johanniterufer 15, Trier, D-54290, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kopp</LastName><ForeName>Marnie</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Waltes</LastName><ForeName>Regina</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sachse</LastName><ForeName>Michael</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Duketis</LastName><ForeName>Eftichia</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jarczok</LastName><ForeName>Tomasz A</ForeName><Initials>TA</Initials><AffiliationInfo><Affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Degenhardt</LastName><ForeName>Franziska</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, Bonn, D-53127, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Görgen</LastName><ForeName>Katharina</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neurobehavioral Genetics, University of Trier, Johanniterufer 15, Trier, D-54290, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Meyer</LastName><ForeName>Jobst</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurobehavioral Genetics, University of Trier, Johanniterufer 15, Trier, D-54290, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Freitag</LastName><ForeName>Christine M</ForeName><Initials>CM</Initials><AffiliationInfo><Affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chiocchetti</LastName><ForeName>Andreas G</ForeName><Initials>AG</Initials><AffiliationInfo><Affiliation>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main, D-60528, Germany. andreas.chiocchetti@kgu.de.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>01</Month><Day>20</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Autism Res</MedlineTA><NlmUniqueID>101461858</NlmUniqueID><ISSNLinking>1939-3806</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">autism spectrum disorder</Keyword><Keyword MajorTopicYN="N">endophenotype</Keyword><Keyword MajorTopicYN="N">genetics</Keyword><Keyword MajorTopicYN="N">genotyping</Keyword><Keyword MajorTopicYN="N">meta-analysis</Keyword><Keyword MajorTopicYN="N">oxytocin</Keyword><Keyword MajorTopicYN="N">oxytocin receptor</Keyword><Keyword MajorTopicYN="N">social interaction</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>07</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>10</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>12</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>10</Month><Day>19</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>10</Month><Day>19</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>1</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26788924</ArticleId><ArticleId IdType="doi">10.1002/aur.1597</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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