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dc.contributor.author
Alotaibi, Rasha N.
dc.contributor.author
Howe, Brian J.
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Moreno Uribe, Lina M.
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Sanchez, Carla A.
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Deleyiannis, Frederic W. B.
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Padilla, Carmencita D.
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Poletta, Fernando Adrián
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Orioli, Ieda M.
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Buxó, Carmen J.
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Wehby, George L.
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Vieira, Alexandre R.
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Murray, Jeffrey
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Valencia Ramírez, Consuelo
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Restrepo Muñeton, Claudia P.
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Long, Ross E.
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Shaffer, John R.
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Reis, Steven E.
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Weinberg, Seth M.
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Neiswanger, Katherine
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McNeil, Daniel W.
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Marazita, Mary L.
dc.date.available
2023-10-03T10:03:46Z
dc.date.issued
2022-02
dc.identifier.citation
Alotaibi, Rasha N.; Howe, Brian J.; Moreno Uribe, Lina M.; Sanchez, Carla A.; Deleyiannis, Frederic W. B.; et al.; Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts; Karger; Human Heredity; 87; 2; 2-2022; 34-50
dc.identifier.issn
0001-5652
dc.identifier.uri
http://hdl.handle.net/11336/213869
dc.description.abstract
Introduction: 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. Methods: 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. Results: Analyses of the individual cohorts and meta-analysis identified association signals close to genome-wide significance (p < 5 × 10-8), and many suggestive association signals (5 × 10-8 < p < 5 × 10-6) near genes with plausible roles in tooth/enamel development. Conclusion: The strongest association signal (p = 1.57 × 10-9) was observed near BMP2K 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 SLC4A4 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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Karger
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
DENTAL ANOMALIES
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ENAMEL HYPOPLASIA
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GENETICS
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GENOME-WIDE ASSOCIATION STUDIES
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MULTIETHNICITY
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Epidemiología
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Ciencias de la Salud
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-07-07T18:16:33Z
dc.journal.volume
87
dc.journal.number
2
dc.journal.pagination
34-50
dc.journal.pais
Suiza
dc.journal.ciudad
Basel
dc.description.fil
Fil: Alotaibi, Rasha N.. University of Pittsburgh; Estados Unidos
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Fil: Howe, Brian J.. University of Pittsburgh; Estados Unidos
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Fil: Moreno Uribe, Lina M.. University of Iowa; Estados Unidos
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Fil: Sanchez, Carla A.. University of Pittsburgh; Estados Unidos
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Fil: Deleyiannis, Frederic W. B.. University of Pittsburgh; Estados Unidos
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Fil: Padilla, Carmencita D.. University of Pittsburgh; Estados Unidos
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Fil: Poletta, Fernando Adrián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET; Argentina
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Fil: Orioli, Ieda M.. Universidade Federal do Rio de Janeiro; Brasil
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Fil: Buxó, Carmen J.. University of Iowa; Estados Unidos
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Fil: Wehby, George L.. University of Pittsburgh; Estados Unidos
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Fil: Vieira, Alexandre R.. University of Iowa; Estados Unidos
dc.description.fil
Fil: Murray, Jeffrey. University of Pittsburgh; Estados Unidos
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Fil: Valencia Ramírez, Consuelo. University of Pittsburgh; Estados Unidos
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Fil: Restrepo Muñeton, Claudia P.. University of Pittsburgh; Estados Unidos
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Fil: Long, Ross E.. University of Pittsburgh; Estados Unidos
dc.description.fil
Fil: Shaffer, John R.. University of Pittsburgh at Johnstown; Estados Unidos. University of Pittsburgh; Estados Unidos
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Fil: Reis, Steven E.. University of Pittsburgh at Johnstown; Estados Unidos. University of Pittsburgh; Estados Unidos. Univeristy of Pittsburgh. School of Medicine; Estados Unidos
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Fil: Weinberg, Seth M.. University of Pittsburgh at Johnstown; Estados Unidos. University of Pittsburgh; Estados Unidos
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Fil: Neiswanger, Katherine. University of Pittsburgh at Johnstown; Estados Unidos. University of Pittsburgh; Estados Unidos
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Fil: McNeil, Daniel W.. No especifíca;
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Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos. University of Pittsburgh at Johnstown; Estados Unidos
dc.journal.title
Human Heredity
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/?DOI=10.1159/000522642
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1159/000522642
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