{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,22]],"date-time":"2025-03-22T10:46:50Z","timestamp":1742640410163},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T00:00:00Z","timestamp":1539734400000},"content-version":"vor","delay-in-days":46,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Investigation"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hirschsprung's disease (<jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>) is a rare and complex congenital disorder characterized by the absence of the enteric neurons in lower digestive tract with an incidence of 1\/5 000. Affected infant usually suffer from severe constipation with megacolon and distended abdomen, and face long\u2010term complications even after surgery. In the last 2 decades, great efforts and progresses have been made in understanding the genetics and molecular biological mechanisms that underlie <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>. However, only a small fraction of the genetic risk can be explained by the identified mutations in the previously established genes. To search novel genetic alterations, new study designs with advanced technologies such as genome\/exome\u2010wide association studies (<jats:styled-content style=\"fixed-case\">GWAS<\/jats:styled-content>s\/<jats:styled-content style=\"fixed-case\">EWAS<\/jats:styled-content>s) and next generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) on target genes or whole genome\/exome, were applied to <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>. In this review, we summaries the current development of the genetics researches on <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> based on <jats:styled-content style=\"fixed-case\">GWAS<\/jats:styled-content>s\/<jats:styled-content style=\"fixed-case\">EWAS<\/jats:styled-content>s and <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>, focusing on the newly discovered variants and genes, and their potential roles in <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> pathogenesis.<\/jats:p>","DOI":"10.1002\/ped4.12062","type":"journal-article","created":{"date-parts":[[2018,10,18]],"date-time":"2018-10-18T03:30:42Z","timestamp":1539833442000},"page":"189-195","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The advances of genetics research on Hirschsprung's disease"],"prefix":"10.1002","volume":"2","author":[{"given":"Juntao","family":"Ke","sequence":"first","affiliation":[{"name":"State Key Laboratory of Environment Health (Incubation) Key Laboratory of Environment &amp; Health (Ministry of Education), Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan) Wuhan China"},{"name":"Department of Epidemiology and Biostatistics School of Public Health Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Zhu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Environment Health (Incubation) Key Laboratory of Environment &amp; Health (Ministry of Education), Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan) Wuhan China"},{"name":"Department of Epidemiology and Biostatistics School of Public Health Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoping","family":"Miao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Environment Health (Incubation) Key Laboratory of Environment &amp; Health (Ministry of Education), Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan) Wuhan China"},{"name":"Department of Epidemiology and Biostatistics School of Public Health Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(72)90394-6"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053959"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(86)80847-8"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.007"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0011-3840(96)80009-8"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/j.cpsurg.2004.09.004"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2016.11.023"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000210"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrgastro.2017.149"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-009-2402-2"},{"key":"e_1_2_9_12_1","first-page":"568","article-title":"A genetic study of Hirschsprung disease","volume":"46","author":"Badner JA","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.040550"},{"key":"e_1_2_9_14_1","first-page":"1117","article-title":"Hirschsprung's disease as a model of complex genetic etiology","volume":"28","author":"Borrego S","year":"2013","journal-title":"Histol Histopathol"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/367378a0"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90016-7"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-445"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/86860"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1130"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2007.00347.x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2006.116145"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq020"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181bd38a9"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2008.01.028"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v17.i45.4937"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1085649"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.03.031"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0809630105"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0110292"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.014"},{"key":"e_1_2_9_31_1","first-page":"5265","article-title":"Trans\u2010ethnic meta\u2010analysis of genome\u2010wide association studies for Hirschsprung disease","volume":"25","author":"Tang CS","year":"2016","journal-title":"Hum Mol Genet"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0053-7"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0045-8"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-016-9752-2"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1035-4"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.178"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2015.07.060"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100223"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-60327-367-1_12"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-012-8392-4"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-017-1174-6"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2018.03.034"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0129-z"}],"container-title":["Pediatric Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fped4.12062","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ped4.12062","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ped4.12062","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ped4.12062","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T22:38:49Z","timestamp":1693953529000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ped4.12062"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":43,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,9]]}},"alternative-id":["10.1002\/ped4.12062"],"URL":"https:\/\/doi.org\/10.1002\/ped4.12062","archive":["Portico"],"relation":{},"ISSN":["2574-2272","2574-2272"],"issn-type":[{"value":"2574-2272","type":"print"},{"value":"2574-2272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"2018-08-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}