{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T23:07:56Z","timestamp":1787612876112,"version":"build-2736575974"},"reference-count":34,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt;  Enamel hypoplasia causes a reduction in the thickness of affected enamel and is one of the most common dental anomalies. This defect is caused by environmental and\/or genetic factors that interfere with tooth formation, emphasizing the importance of investigating enamel hypoplasia on an epidemiological and genetic level.   &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt;  A genome-wide association of enamel hypoplasia was performed in multiple cohorts, overall comprising 7,159 individuals ranging in age from 7 to 82 years. Mixed models were used to test for genetic association while simultaneously accounting for relatedness and genetic population structure. Meta-analysis was then performed. More than 5 million single-nucleotide polymorphisms were tested in individual cohorts.   &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt;  Analyses of the individual cohorts and meta-analysis identified association signals close to genome-wide significance (&lt;i&gt;p&lt;\/i&gt; &amp;#x3c; 5 \u00d7 10&lt;sup&gt;\u20138&lt;\/sup&gt;), and many suggestive association signals (5 \u00d7 10&lt;sup&gt;\u20138&lt;\/sup&gt; &amp;#x3c; &lt;i&gt;p &amp;#x3c;&lt;\/i&gt; 5 \u00d7 10&lt;sup&gt;\u20136&lt;\/sup&gt;) near genes with plausible roles in tooth\/enamel development.   &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt;  The strongest association signal (&lt;i&gt;p&lt;\/i&gt; = 1.57 \u00d7 10&lt;sup&gt;\u20139&lt;\/sup&gt;) was observed near &lt;i&gt;BMP2K&lt;\/i&gt; in one of the individual cohorts. Additional suggestive signals were observed near genes with plausible roles in tooth development in the meta-analysis, such as &lt;i&gt;SLC4A4&lt;\/i&gt; which can influence enamel hypoplasia. Additional human genetic studies are needed to replicate these results and functional studies in model systems are needed to validate our findings. <\/jats:p>","DOI":"10.1159\/000522642","type":"journal-article","created":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T22:00:51Z","timestamp":1645048851000},"page":"34-50","source":"Crossref","is-referenced-by-count":9,"title":["Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts"],"prefix":"10.1159","volume":"87","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6455-9522","authenticated-orcid":false,"given":"Rasha N.","family":"Alotaibi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6737-9735","authenticated-orcid":false,"given":"Brian J.","family":"Howe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina M.","family":"Moreno 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