{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T07:33:59Z","timestamp":1750836839708,"version":"3.37.3"},"reference-count":44,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,6,11]],"date-time":"2018-06-11T00:00:00Z","timestamp":1528675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000782","name":"European Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000782","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>To investigate possible association between functional common variants in the lysyl oxidase like 3 gene and non\u2010syndromic cleft palate we selected a common missense variant p.Ile615Phe (rs17010021), which was predicted to have a probably damaging effect on the lysyl oxidase like 3 enzyme. We genotyped 258 non\u2010syndromic cleft palate case\u2010parent triads of European origin and tested genetic association using the transmission disequilibrium test and log\u2010linear regression analyses of genotypic relative risks and of parent\u2010of\u2010origin effects. The observed genotype frequency in parents was in Hardy\u2013Weinberg equilibrium. Compared with wild\u2010type Ile\/Ile homozygotes, the relative risks for Phe\/Phe homozygote infants was 6.87 (<jats:italic>P<\/jats:italic> value 3.0\u2009\u00d7\u200910<jats:sup>\u22123<\/jats:sup>), while that for Ile\/Phe heterozygotes was not significant. Assuming an autosomal recessive model, the relative risks for Phe\/Phe genotype resulted 10.54 (<jats:italic>P<\/jats:italic> value 2.9\u2009\u00d7\u200910<jats:sup>\u22125<\/jats:sup>), with a 3.6% population attributable risk. No parent\u2010of\u2010origin effect was observed. The identification in lysyl oxidase like 3 of a missense variant which under a recessive model associates with 10\u2010fold increased risk of non\u2010syndromic cleft palate supports the hypothesis that the genetic etiology of this congenital anomaly includes relatively uncommon recessive variants with moderate penetrance and located in genes which are also involved in syndromes that include cleft palate as part of the phenotype. Our findings require functional validation and replication in a larger independent genetic association study.<\/jats:p>","DOI":"10.1111\/cga.12288","type":"journal-article","created":{"date-parts":[[2018,5,26]],"date-time":"2018-05-26T09:44:20Z","timestamp":1527327860000},"page":"136-140","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Association between a common missense variant in <i>LOXL3<\/i> gene and the risk of non\u2010syndromic cleft palate"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4365-2749","authenticated-orcid":false,"given":"Mohammad Faisal J.","family":"Khan","sequence":"first","affiliation":[{"name":"Department of Biomedical and Specialty Surgical Sciences, Section of Medical Biochemistry, Molecular Biology and Genetics University of Ferrara  Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Little","sequence":"additional","affiliation":[{"name":"School of Epidemiology and Public Health University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Mossey","sequence":"additional","affiliation":[{"name":"Craniofacial Development at the World Health Organization\u2013collaborating Centre for Oral and Craniofacial Research, Dental Hospital and School University of Dundee  Dundee Scotland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00e9gine P.M.","family":"Steegers\u2010Theunissen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Department of Pediatrics, Division Neonatology Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Bonsi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Specialty Surgical Sciences, Section of Medical Biochemistry, Molecular Biology and Genetics University of Ferrara  Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Bassi Andreasi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Specialty Surgical Sciences, Section of Medical Biochemistry, Molecular Biology and Genetics University of Ferrara  Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1448-9516","authenticated-orcid":false,"given":"Michele","family":"Rubini","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Specialty Surgical Sciences, Section of Medical Biochemistry, Molecular Biology and Genetics University of Ferrara  Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,6,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","unstructured":"AdzhubeiI JordanDM SunyaevSR.2013. Predicting functional effect of human missense mutations using PolyPhen\u20102. 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