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Research supports an association between genetic variation in the oxytocin receptor gene (<jats:italic>OXTR<\/jats:italic>) and autism spectrum disorders (ASD). In this study, we examine the association between the <jats:italic>OXTR<\/jats:italic> gene and a specific social phenotype within ASD. This genotype\u2013phenotype investigation may provide insight into how <jats:italic>OXTR<\/jats:italic> conveys risk for social impairment. The current study investigated 10 SNPS in the <jats:italic>OXTR<\/jats:italic> gene that have been previously shown to be associated with ASD. We examine the association of these SNPs with both a social phenotype and a repetitive behavior phenotype comprised of behaviors commonly impaired in ASD in the Simons simplex collection (SSC). Using a large sample to examine the association between <jats:italic>OXTR<\/jats:italic> and ASD (n\u2009=\u2009range: 485\u20131002), we find evidence to support a relation between two <jats:italic>OXTR<\/jats:italic> SNPs and the examined social phenotype among children diagnosed with ASD. Greater impairment on the social responsiveness scale standardized total score and on several subdomains was observed among individuals with one or more copies of the minor frequency allele in both rs7632287 and rs237884. Linkage disequilibrium (LD) mapping suggests that these two SNPs are in LD within and overlapping the 3\u2032 untranslated region (3\u2032\u2010UTR) of the <jats:italic>OXTR<\/jats:italic> gene. These two SNPs were also associated with greater impairment on the repetitive behavior scale. Results of this study indicate that social impairment and repetitive behaviors in ASD are associated with genomic variation in the 3\u2032UTR of the <jats:italic>OXTR<\/jats:italic> gene. These variants may be linked to an allele that alters stability of the mRNA message although further work is necessary to test this hypothesis. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32377","type":"journal-article","created":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T06:08:02Z","timestamp":1442210882000},"page":"720-729","source":"Crossref","is-referenced-by-count":24,"title":["Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders"],"prefix":"10.1002","volume":"168","author":[{"given":"Ashley J.","family":"Harrison","sequence":"first","affiliation":[{"name":"Department of Educational Psychology College of Education University of Georgia Athens Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ece D.","family":"Gamsiz","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Human Behavior Alpert Medical School of Brown University Providence Rhode Island"},{"name":"Developmental Disorders Genetics Research Program Emma Pendleton Bradley Hospital Riverside Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaac C.","family":"Berkowitz","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Cell Biology and Biochemistry and Institute for Brain Science Brown University Providence Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shailender","family":"Nagpal","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Cell Biology and Biochemistry and Institute for Brain Science Brown University Providence Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth A.","family":"Jerskey","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Human Behavior Alpert Medical School of Brown University Providence Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2346"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0910249107"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-07-0491"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yhbeh.2006.06.018"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.psyneuen.2012.10.011"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005596502855"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwj057"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4614-1704-0_12"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-010-9071-2"},{"key":"e_1_2_6_11_1","volume-title":"Social responsiveness scale (SRS)","author":"Constantino JN","year":"2005"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025014929212"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2010.11.026"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.10.006"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.004"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yhbeh.2012.01.002"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6123(08)00428-7"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2006.05.030"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.npp.1300021"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.03.005"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2007.02.001"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.59.9.809"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-006-0213-z"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2007-1710"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4002087"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yhbeh.2006.06.028"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781119013563"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaac.2011.05.002"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2009.140"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2014.77"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005592401947"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02172145"},{"key":"e_1_2_6_33_1","unstructured":"LordC RutterM DiLavorePC RisiS.2002. 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