{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T18:37:43Z","timestamp":1793039863858,"version":"4.5.0"},"reference-count":51,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T00:00:00Z","timestamp":1407196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008786","name":"Keck School of Medicine of USC","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008786","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Operation Smile International"},{"name":"The Sorenson Legacy Foundation","id":[{"id":"https:\/\/ror.org\/04xg8kp91","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Genome\u2010wide association studies (GWAS) for orofacial clefts have identified several susceptibility regions, but have largely focused on non\u2010Hispanic White populations in developed countries. We performed a targeted genome\u2010wide study of single nucleotide polymorphisms (SNPs) in exons using the Illumina HumanExome+ array with custom fine mapping of 16 cleft susceptibility regions in three underserved populations: Congolese (87 case\u2010mother, 210 control\u2010mother pairs), Vietnamese (131 case\u2010parent trios), and Filipinos (42 case\u2010mother, 99 control\u2010mother pairs). All cases were children with cleft lip with or without cleft palate. Families were recruited from local hospitals and parental exposures were collected using interviewer\u2010administered questionnaires. We used logistic regression models for case\u2010control analyses, family\u2010based association tests for trios, and fixed\u2010effect meta\u2010analyses to determine individual SNP effects corrected for multiple testing. Of the 16 known susceptibility regions tested, SNPs in four regions reached statistical significance in one or more of these populations: 1q32.2 (\n                      <jats:italic>IRF6<\/jats:italic>\n                      ), 10q25.3 (\n                      <jats:italic>VAX1<\/jats:italic>\n                      ), and 17q22 (\n                      <jats:italic>NOG<\/jats:italic>\n                      ). Due to different linkage disequilibrium patterns, significant SNPs in these regions differed between the Vietnamese and Filipino populations from the index SNP selected from previous GWAS studies. Among Africans, there were no significant associations identified for any of the susceptibility regions. rs10787738 near\n                      <jats:italic>VAX1<\/jats:italic>\n                      (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20094.98E\u22123) and rs7987165 (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20096.1E\u22126) were significant in the meta\u2010analysis of all three populations combined. These results confirm several known susceptibility regions and identify novel risk alleles in understudied populations. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36693","type":"journal-article","created":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T14:03:50Z","timestamp":1407247430000},"page":"2572-2580","source":"Crossref","is-referenced-by-count":30,"title":["Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians"],"prefix":"10.1002","volume":"164","author":[{"given":"Jane C.","family":"Figueiredo","sequence":"first","affiliation":[{"name":"Department of Preventive Medicine Keck School of Medicine University of Southern California Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Ly","sequence":"additional","affiliation":[{"name":"Division of Plastic &amp; Maxillofacial Surgery Children's Hospital Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haley","family":"Raimondi","sequence":"additional","affiliation":[{"name":"Operation Smile Inc. Norfolk Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Magee","sequence":"additional","affiliation":[{"name":"Operation Smile Inc. Norfolk Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James W.","family":"Baurley","sequence":"additional","affiliation":[{"name":"BioRealm LLC Los Angeles California"},{"name":"Bioinformatics Research Group Bina Nusantara University Jakarta Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro A.","family":"Sanchez\u2010Lara","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Pathology &amp; Laboratory Medicine Keck School of Medicine University of Southern California Children's Hospital Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugonna","family":"Ihenacho","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine Keck School of Medicine University of Southern California Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Yao","sequence":"additional","affiliation":[{"name":"Division of Plastic &amp; Maxillofacial Surgery Children's Hospital Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher K.","family":"Edlund","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine Keck School of Medicine University of Southern California Los Angeles California"},{"name":"BioRealm LLC Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"van den Berg","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine Keck School of Medicine University of Southern California Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Casey","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine Keck School of Medicine University of Southern California Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves A.","family":"DeClerk","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Biochemistry and Molecular Biology Keck School of Medicine University of Southern California and Children's Hospital Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan M.","family":"Samet","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine Keck School of Medicine University of Southern California Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"William","family":"Magee","sequence":"additional","affiliation":[{"name":"Division of Plastic &amp; Maxillofacial Surgery Children's Hospital Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1038\/nature04226","article-title":"A haplotype map of the human genome","volume":"437","author":"Anon","year":"2005","journal-title":"Nature"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/nature05911","article-title":"Genome\u2010wide association study of 14,000 cases of seven common diseases and 3,000 shared controls","volume":"447","author":"Anon","year":"2007","journal-title":"Nature"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1283-6"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.333"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35749"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jamcollsurg.2010.08.019"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20297"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-9-174"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20430"},{"key":"e_1_2_6_13_1","article-title":"Genome\u2010wide analysis of parent\u2010of\u2010origin effects in non\u2010syndromic orofacial clefts","author":"Garg P","year":"2013","journal-title":"EJHG"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4401860"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.020"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069385"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.23.3106"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20292"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23013"},{"key":"e_1_2_6_20_1","first-page":"16","article-title":"Etiology of facial clefts: Prospective evaluation of 428 patients","volume":"25","author":"Jones MC","year":"1988","journal-title":"Cleft Palate J"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01577.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20314"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36133"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23076"},{"key":"e_1_2_6_25_1","first-page":"338","article-title":"Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole\u2010exome databases","volume":"15","author":"Leslie EJ","year":"2013","journal-title":"Cleft Palate Craniofacial J"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2360"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23209"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.506"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2002)039<0149:NCLWOW>2.0.CO;2"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60695-4"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20687"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.21633"},{"key":"e_1_2_6_33_1","first-page":"65","article-title":"Quality of DNA extracted from saliva samples collected with the Oragene DNA self\u2010collection kit","volume":"12","author":"Nunes AP","year":"2012","journal-title":"J Prev Med Public Health"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.3961\/jpmph.2009.42.1.1"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3180423cca"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20303"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1214\/09-STS286"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.242"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.242"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0296-9"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1894"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5281.1516"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30812"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.485"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.39458.563611.AE"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20323"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.250"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32302"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31884"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34191"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.17.4135"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032909"}],"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.36693","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36693","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36693","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T16:04:41Z","timestamp":1694707481000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,5]]},"references-count":51,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/ajmg.a.36693"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36693","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,5]]}}}