{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T20:29:05Z","timestamp":1776371345095,"version":"3.51.2"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Nonsyndromic cleft lip with or without cleft palate (NSCL\/P), the most common type of orofacial clefting, is one of the most frequent congenital defects. Based on epidemiological data, NSCL\/P can be distinguished from nonsyndromic cleft palate only (NSCPO). Both phenotypes have a complex etiology and environmental and genetic factors are involved in their development. To date, genome\u2010wide association studies have identified 12 genetic factors that increase the risk for NSCL\/P in Europeans. Six of them have been independently replicated in samples derived from the same population. The aim of the present study was to replicate the remaining six NSCL\/P risk loci in chromosomal regions 1p22.1, 1p36, 3p11.1, 8q21.3, 15q22.2, and 20q12 in a family\u2010based sample of European descent. Each of the top\u2010associated SNPs (single nucleotide polymorphisms) was genotyped in 343 NSCL\/P and 266 NSCPO nuclear trios. Single\u2010marker association analysis in the NSCL\/P sample showed a significant association with SNP rs742071 (1p36, <jats:italic>P<\/jats:italic><jats:sub>corrected<\/jats:sub>\u2009=\u20093.74\u2009\u00d7\u200910<jats:sup>\u22123<\/jats:sup>), which is located in the intronic region of <jats:italic>PAX7<\/jats:italic>, a gene known to be functionally implicated in craniofacial development. Two additional loci, 1p22.1 and 20q12, were nominally significant, but did not withstand correction for multiple testing. There was no evidence that the NSCL\/P risk alleles contribute to the etiology of NSCPO, further supporting that these two subtypes of orofacial clefting are primarily etiologically distinct. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36141","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:31:03Z","timestamp":1376674263000},"page":"2545-2549","source":"Crossref","is-referenced-by-count":21,"title":["Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample"],"prefix":"10.1002","volume":"161","author":[{"given":"Anne C.","family":"B\u00f6hmer","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life and Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Mangold","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Tessmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life and Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Mossey","sequence":"additional","affiliation":[{"name":"Orthodontic Unit Dental Hospital &amp; School University of Dundee Dundee UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regine P.","family":"Steegers\u2010Theunissen","sequence":"additional","affiliation":[{"name":"Erasmus Medical Center University Medical Center Rotterdam The Netherlands"},{"name":"Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Lindemans","sequence":"additional","affiliation":[{"name":"Erasmus Medical Center University Medical Center Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marieke","family":"Bouwman\u2010Both","sequence":"additional","affiliation":[{"name":"Erasmus Medical Center University Medical Center Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Rubini","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Specialty Surgical Sciences Medical Genetics Unit University of Ferrara Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Franceschelli","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Specialty Surgical Sciences Medical Genetics Unit University of Ferrara Ferrara 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Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Knapp","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry Informatics and Epidemiology University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin U.","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life and Brain Center University of Bonn Bonn 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