{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T20:55:49Z","timestamp":1700254549184},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,1,13]],"date-time":"2004-01-13T00:00:00Z","timestamp":1073952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Certain congenital disorders that are rare in the general population are quite common in individuals with trisomic conditions. For example, complete atrioventricular septal defect occurs in about 20% of individuals with Down syndrome, an approximately 500\u2010fold increase in risk as compared to individuals without Down syndrome. Genetic variation on the chromosome involved in the trisomy may affect susceptibility to these trisomy\u2010specific disorders. That is, increased dosage of a variant may be directly involved in increasing the risk of a disorder, or it may be indirectly involved by causing up\u2010 or downregulation of other genes. As in standard disomic gene\u2010mapping, one can search for genes using linkage or association methods. Within association methods, one can consider case\u2010control methods or family\u2010based control methods such as the transmission disequilibrium test (TDT). Most gene\u2010mapping methods need to be substantially redesigned for use with trisomic data. In this paper, we present a \u201ctrisomic TDT\u201d, a statistical method of testing for nonrandom transmission of alleles from parents to trisomic children. We demonstrate the method on a dataset of parent\u2010child trios in which the child has Down syndrome. <jats:italic>Genet Epidemiol<\/jats:italic> 26:125\u2013131, 2004. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gepi.10302","type":"journal-article","created":{"date-parts":[[2004,1,23]],"date-time":"2004-01-23T09:00:56Z","timestamp":1074848456000},"page":"125-131","source":"Crossref","is-referenced-by-count":4,"title":["A trisomic transmission disequilibrium test"],"prefix":"10.1002","volume":"26","author":[{"given":"Zhiying","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly F.","family":"Kerstann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie L.","family":"Sherman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aravinda","family":"Chakravarti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleanor","family":"Feingold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,1,13]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-1809.2000.6460567.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1137\/0916069"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(87)90102-9"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00253-1"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_1_7_1","first-page":"1","volume-title":"The phenotypic mapping of Down syndrome and other aneuploid conditions","author":"Epstein CJ","year":"1993"},{"key":"e_1_2_1_8_1","first-page":"1223","volume-title":"The metabolic and molecular bases of inherited disease","author":"Epstein CJ","year":"2001"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570319"},{"key":"e_1_2_1_10_1","first-page":"475","article-title":"Methods for genetic linkage analysis using trisomies","volume":"56","author":"Feingold E","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302799"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<213::AID-AJMG6>3.0.CO;2-8"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/321981"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/35066065"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.18.120184.000441"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.11.4997"},{"key":"e_1_2_1_17_1","first-page":"201","article-title":"Statistical models for trisomic phenotypes","volume":"58","author":"Lamb NE","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/368203"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.2307\/2533494"},{"key":"e_1_2_1_20_1","first-page":"402","article-title":"Comparison of statistics for candidate\u2010gene association studies using cases and parents","volume":"55","author":"Schaid DJ","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","first-page":"506","article-title":"Transmission test for linkage disequlibrium: the insulin gene region and insulin\u2010dependent diabetes mellitus (IDDM)","volume":"52","author":"Spielman RC","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1145\/279232.279236"}],"container-title":["Genetic Epidemiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgepi.10302","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gepi.10302","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T13:49:06Z","timestamp":1700228946000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gepi.10302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1,13]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1002\/gepi.10302"],"URL":"https:\/\/doi.org\/10.1002\/gepi.10302","archive":["Portico"],"relation":{},"ISSN":["0741-0395","1098-2272"],"issn-type":[{"value":"0741-0395","type":"print"},{"value":"1098-2272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,1,13]]}}}