{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:10:41Z","timestamp":1788869441012,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,18]],"date-time":"2015-03-18T00:00:00Z","timestamp":1426636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIDCR (NIH)","award":["R37-DE08559"],"award-info":[{"award-number":["R37-DE08559"]}]},{"name":"NIDCR (NIH)","award":["U01-DE20057"],"award-info":[{"award-number":["U01-DE20057"]}]},{"name":"NIDCR (NIH)","award":["K99\/R00-DE022378"],"award-info":[{"award-number":["K99\/R00-DE022378"]}]},{"name":"Grant-in-Aid","award":["242 49092"],"award-info":[{"award-number":["242 49092"]}]},{"name":"JSPS KAKENHI grant-in-Aid","award":["26861757"],"award-info":[{"award-number":["26861757"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta\u2010analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3,436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs that represented the most significant\n                      <jats:italic>P<\/jats:italic>\n                      \u2010value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1), and rs7179658 (15q22.2). We directly sequenced three non\u2010coding conserved regions 200\u2009kb downstream of\n                      <jats:italic>SPRY2<\/jats:italic>\n                      in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with nonsyndromic cleft lip with cleft palate (NSCLP) in Europeans (\n                      <jats:italic>P<\/jats:italic>\n                      \u2010value\u2009=\u20094\u2009\u00d7\u200910\n                      <jats:sup>\u22125<\/jats:sup>\n                      , OR\n                      <jats:sub>transmission<\/jats:sub>\n                      \u2009=\u20091.86 with 95% confidence interval: 1.38\u20132.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36912","type":"journal-article","created":{"date-parts":[[2015,3,18]],"date-time":"2015-03-18T18:05:23Z","timestamp":1426701923000},"page":"1054-1060","source":"Crossref","is-referenced-by-count":27,"title":["Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans"],"prefix":"10.1002","volume":"167","author":[{"given":"Zhonglin","family":"Jia","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu, Sichaun China"},{"name":"Department of Pediatrics University of Iowa Iowa City Iowa"},{"name":"Department of Cleft Lip and Palate Surgery West China Hospital of Stomatology Sichuan University Chengdu, Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth J.","family":"Leslie","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics Department of Oral Biology School of Dental Medicine University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret E.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics Department of Oral Biology School of Dental Medicine University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azeez","family":"Butali","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology, and Medicine College of Dentistry University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Standley","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Rigdon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Suzuki","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu, Sichaun China"},{"name":"Department of Pediatrics University of Iowa Iowa City Iowa"},{"name":"Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies School of Dentistry Aichi\u2010Gakuin University, Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayana","family":"Gongorjav","sequence":"additional","affiliation":[{"name":"National Center for Maternal and Child Health Ulaanbaatar Mongolia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. Enkhtur","family":"Shonkhuuz","sequence":"additional","affiliation":[{"name":"National Center for Maternal and Child Health Ulaanbaatar Mongolia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagato","family":"Natsume","sequence":"additional","affiliation":[{"name":"Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies School of Dentistry Aichi\u2010Gakuin University, Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu, Sichaun China"},{"name":"Department of Cleft Lip and Palate Surgery West China Hospital of Stomatology Sichuan University Chengdu, Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics Department of Oral Biology School of Dental Medicine University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.32.20066"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20595"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.333"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048495"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21195"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.020"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.10295"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.280974"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12018"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2360"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.506"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0905980"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-090711-163729"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.12.116"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2004.05.007"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.299.11.1335"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05295"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.242"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1541-0420.2011.01713.x"},{"key":"e_1_2_7_24_1","first-page":"488","article-title":"Molecular signaling along the anterior\u2010posterior axis of early palate development","volume":"3","author":"Smith TM","year":"2012","journal-title":"Front Physiol"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl822"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08451"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2007.06.007"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36912","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36912","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T08:54:17Z","timestamp":1696582457000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36912"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,18]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1002\/ajmg.a.36912"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36912","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,18]]}}}