{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T14:26:20Z","timestamp":1766759180785},"reference-count":55,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2012,8,22]],"date-time":"2012-08-22T00:00:00Z","timestamp":1345593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genome\u2010wide association studies have identified common variants associated with common diseases. Most variants, however, explain only a small proportion of the estimated heritability, suggesting that rare variants might contribute to a larger extent to common diseases than assumed to date. Here, we use next\u2010generation sequencing to test whether such variants contribute to the risk for anxiety disorders by re\u2010sequencing 40\u2009kb including all exons of the <jats:italic>TMEM132D<\/jats:italic> locus which we have previously shown to be associated with panic disorder and anxiety severity measures. DNA from 300 patients suffering from anxiety disorders, mostly panic disorder (84.7%), and 300 healthy controls was screened for the presence of genetic variants using next\u2010generation re\u2010sequencing in a pooled approach. Results were verified by individual re\u2010genotyping. We identified 371 variants of which 247 had not been reported before, including 15 novel non\u2010synonymous variants. The majority, 76% of these variants had a minor allele frequency less than 5%. While we did not identify additional common variants in <jats:italic>TMEM132D<\/jats:italic> associated with panic disorders, we observed an overrepresentation of presumably functional coding variants in healthy controls as compared to cases as well as a higher rate of private coding variants in cases, with one non\u2010synonymous coding variant present in four patients but not in any of the matched controls nor in over 5,500 individuals of different ethnic origins from publicly available re\u2010sequencing datasets. Our data suggest that not only common but also putatively functional and\/or rare variants within <jats:italic>TMEM132D<\/jats:italic> might contribute to the risk to develop anxiety disorders. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.32096","type":"journal-article","created":{"date-parts":[[2012,8,22]],"date-time":"2012-08-22T12:09:46Z","timestamp":1345637386000},"page":"896-907","source":"Crossref","is-referenced-by-count":27,"title":["Rare variants in <i>TMEM132D<\/i> in a case\u2013control sample for panic disorder"],"prefix":"10.1002","volume":"159B","author":[{"given":"Carina","family":"Quast","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre","family":"Altmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Weber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janine","family":"Arloth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Bader","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Heck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hildegard","family":"Pfister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertram","family":"M\u00fcller\u2010Myhsok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelika","family":"Erhardt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth B.","family":"Binder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,8,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr205"},{"key":"e_1_2_6_3_1","volume-title":"Panic and Agoraphobia Scale (PAS)","author":"Bandelow B","year":"1999"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2867"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.f.136"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.659"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2779"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1099870"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr046"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000294"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012646"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2809"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2010.41"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2012.85"},{"key":"e_1_2_6_16_1","unstructured":"Exome Variant Server NHLBI Exome Sequencing Project (ESP) Seattle WA. 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