{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:38:32Z","timestamp":1740141512573,"version":"3.37.3"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T00:00:00Z","timestamp":1491955200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Non\u2010syndromic cleft lip with or without cleft palate (NSCL\/P) is a common birth defect with a complex and heterogeneous etiology. A recent genome\u2010wide association study (GWAS) among Chinese populations has identified a new region at 16p13.3 as being associated with NSCL\/P, which requires further replication. Here, we attempted to replicate and further clarify the genetic association between this region and NSCL\/P, as well as testing for potential gene\u2010gene (G\u2009\u00d7\u2009G) and gene\u2010environment (G\u2009\u00d7\u2009E) interactions. We conducted transmission disequilibrium tests on 69 single nucleotide polymorphisms (SNPs) mapping to 16p13.3 among 806 Chinese case\u2010parent trios ascertained through an international consortium where a GWAS of oral clefts was conducted. G\u2009\u00d7\u2009G, as well as G\u2009\u00d7\u2009E interactions involving maternal environmental tobacco smoke (ETS) and multivitamin supplementation, were explored using conditional logistic regression model. We applied Cordell's method as implemented in the R package TRIO to test for possible interactions. While no SNPs showed evidence of linkage and association with NSCL\/P after Bonferroni correction, we found signals of G\u2009\u00d7\u2009G interactions between SNPs in 16p13.3. Nine pairs of SNP\u2010SNP interactions attained significance after Bonferroni correction, among which the most significant interaction was found between rs2072346 (<jats:italic>ADCY9<\/jats:italic>) and rs11646137 (intergenic region, <jats:italic>P<\/jats:italic>\u2009=\u20097.2\u2009\u00d7\u200910<jats:sup>\u22125<\/jats:sup>). Linkage disequilibrium (LD) analysis revealed only low level of LD between these SNPs. This study failed to confirm the significant association between SNPs within 16p13.3 and the risk of NSCL\/P, but underlined the importance of taking into account potential G\u2009\u00d7\u2009G interactions for the genetic association analysis of NSCL\/P.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38190","type":"journal-article","created":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T13:45:07Z","timestamp":1492004707000},"page":"1489-1494","source":"Crossref","is-referenced-by-count":4,"title":["Gene\u2010gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non\u2010syndromic cleft lip with or without cleft palate in Chinese case\u2010parent trios"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9520-7789","authenticated-orcid":false,"given":"Dongjing","family":"Liu","sequence":"first","affiliation":[{"name":"School of Public Health Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Public Health Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Schwender","sequence":"additional","affiliation":[{"name":"Mathematical Institute Heinrich Heine University Duesseldorf Duesseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics School of Dental Medicine University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuqing","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Public Health Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Yuan","sequence":"additional","affiliation":[{"name":"School of Public Health Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Wang","sequence":"additional","affiliation":[{"name":"Beijing Center for Disease Prevention and Control Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kung Yee","family":"Liang","sequence":"additional","affiliation":[{"name":"National Yang\u2010Ming University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yah Huei","family":"Wu\u2010Chou","sequence":"additional","affiliation":[{"name":"Chang Gung Memorial Hospital Taoyuan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengying","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Public Health Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Disease, West China College of Stomatology Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongping","family":"Zhu","sequence":"additional","affiliation":[{"name":"School of Stomatology Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Wu","sequence":"additional","affiliation":[{"name":"School of Public Health Peking University Beijing China"},{"name":"Key Laboratory of Reproductive Health Ministry of Health Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terri H.","family":"Beaty","sequence":"additional","affiliation":[{"name":"School of Public Health Johns Hopkins University Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,12]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_6_2_1","DOI":"10.1007\/s00335-008-9136-7"},{"doi-asserted-by":"publisher","key":"e_1_2_6_3_1","DOI":"10.1093\/bioinformatics\/bth457"},{"doi-asserted-by":"publisher","key":"e_1_2_6_4_1","DOI":"10.1038\/ng.580"},{"doi-asserted-by":"publisher","key":"e_1_2_6_5_1","DOI":"10.1002\/gepi.20595"},{"doi-asserted-by":"publisher","key":"e_1_2_6_6_1","DOI":"10.1007\/s00439-013-1283-6"},{"doi-asserted-by":"publisher","key":"e_1_2_6_7_1","DOI":"10.1038\/ng.333"},{"doi-asserted-by":"publisher","key":"e_1_2_6_8_1","DOI":"10.1371\/journal.pgen.1001233"},{"doi-asserted-by":"publisher","key":"e_1_2_6_9_1","DOI":"10.1597\/05-167"},{"doi-asserted-by":"publisher","key":"e_1_2_6_10_1","DOI":"10.1093\/hmg\/11.20.2463"},{"doi-asserted-by":"publisher","key":"e_1_2_6_11_1","DOI":"10.1016\/j.ejmg.2012.09.005"},{"doi-asserted-by":"publisher","key":"e_1_2_6_12_1","DOI":"10.1038\/nrg2933"},{"doi-asserted-by":"publisher","key":"e_1_2_6_13_1","DOI":"10.1016\/j.jpeds.2009.06.020"},{"doi-asserted-by":"publisher","key":"e_1_2_6_14_1","DOI":"10.1038\/nature07672"},{"issue":"6","key":"e_1_2_6_15_1","first-page":"42","article-title":"Oral aspects of Rubinstein\u2010Taybi syndrome","volume":"6","author":"Hennekam R. C.","year":"1990","journal-title":"American Journal of Medical Genetics"},{"doi-asserted-by":"publisher","key":"e_1_2_6_16_1","DOI":"10.1038\/sj.ejhg.5201594"},{"doi-asserted-by":"publisher","key":"e_1_2_6_17_1","DOI":"10.1073\/pnas.1400350111"},{"doi-asserted-by":"publisher","key":"e_1_2_6_18_1","DOI":"10.1038\/ng985"},{"doi-asserted-by":"publisher","key":"e_1_2_6_19_1","DOI":"10.1159\/000099183"},{"doi-asserted-by":"publisher","key":"e_1_2_6_20_1","DOI":"10.1371\/journal.pone.0045441"},{"doi-asserted-by":"publisher","key":"e_1_2_6_21_1","DOI":"10.1002\/gepi.21888"},{"doi-asserted-by":"publisher","key":"e_1_2_6_22_1","DOI":"10.1038\/ng.506"},{"doi-asserted-by":"publisher","key":"e_1_2_6_23_1","DOI":"10.1016\/S0140-6736(09)60695-4"},{"doi-asserted-by":"publisher","key":"e_1_2_6_24_1","DOI":"10.1126\/science.1088328"},{"doi-asserted-by":"publisher","key":"e_1_2_6_25_1","DOI":"10.1086\/510518"},{"doi-asserted-by":"publisher","key":"e_1_2_6_26_1","DOI":"10.1007\/s00439-009-0680-3"},{"doi-asserted-by":"publisher","key":"e_1_2_6_27_1","DOI":"10.1038\/ncomms7414"},{"doi-asserted-by":"publisher","key":"e_1_2_6_28_1","DOI":"10.1186\/s13039-014-0076-5"},{"doi-asserted-by":"publisher","key":"e_1_2_6_29_1","DOI":"10.1038\/ng1157"},{"doi-asserted-by":"publisher","key":"e_1_2_6_30_1","DOI":"10.1038\/ng.2971"},{"doi-asserted-by":"publisher","key":"e_1_2_6_31_1","DOI":"10.1016\/j.tcb.2011.04.001"},{"doi-asserted-by":"publisher","key":"e_1_2_6_32_1","DOI":"10.1101\/gad.1800909"},{"doi-asserted-by":"publisher","key":"e_1_2_6_33_1","DOI":"10.1002\/ajmg.a.33303"},{"doi-asserted-by":"publisher","key":"e_1_2_6_34_1","DOI":"10.1002\/bdra.22885"},{"doi-asserted-by":"publisher","key":"e_1_2_6_35_1","DOI":"10.1371\/journal.pone.0088088"}],"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.38190","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38190","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:11:57Z","timestamp":1696590717000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,12]]},"references-count":34,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1002\/ajmg.a.38190"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38190","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2017,4,12]]}}}