Rethinking isolated cleft lip and palate as a syndrome
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1016/j.oooo.2018.01.007 http://hdl.handle.net/11449/170701 |
Resumo: | Objective: The goal of the present work was to use dental conditions that have been independently associated with cleft lip and palate (CL/P) as a tool to identify a broader collection of individuals to be used for gene identification that lead to clefts. Study design: We studied 1573 DNA samples combining individuals that were born with CL/P or had tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries with the goal to identify genetic associations. We tested 2 single-nucleotide polymorphisms that were located in the vicinity of regions suggested to contribute to supernumerary teeth. Overrepresentation of alleles were determined for combinations of individuals as well as for each individual phenotypic group with an α of.05. Results: We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of the conditions described earlier. When subgroups were tested, associations were found for individuals with hypomineralization. Conclusions: Although we did not test this hypothesis directly in the present study, based on associations reported previously, we believe that CL/P is actually a syndrome of alterations of the dentition, and considering it that way may allow for the identification of genotype-phenotype correlations that may be useful for clinical care. |
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Rethinking isolated cleft lip and palate as a syndromeObjective: The goal of the present work was to use dental conditions that have been independently associated with cleft lip and palate (CL/P) as a tool to identify a broader collection of individuals to be used for gene identification that lead to clefts. Study design: We studied 1573 DNA samples combining individuals that were born with CL/P or had tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries with the goal to identify genetic associations. We tested 2 single-nucleotide polymorphisms that were located in the vicinity of regions suggested to contribute to supernumerary teeth. Overrepresentation of alleles were determined for combinations of individuals as well as for each individual phenotypic group with an α of.05. Results: We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of the conditions described earlier. When subgroups were tested, associations were found for individuals with hypomineralization. Conclusions: Although we did not test this hypothesis directly in the present study, based on associations reported previously, we believe that CL/P is actually a syndrome of alterations of the dentition, and considering it that way may allow for the identification of genotype-phenotype correlations that may be useful for clinical care.Department of Pedodontics School of Dentistry Istanbul UniversityDepartment of Pedodontics School of Dentistry Istanbul Medipol UniversityDepartment of Oral Biology University of Pittsburgh School of Dental MedicineDepartment of Pediatric Dentistry UNESPDepartment of Pediatric Dentistry University of Pittsburgh School of Dental MedicineDepartment of Pediatric Dentistry UNESPIstanbul UniversityIstanbul Medipol UniversityUniversity of Pittsburgh School of Dental MedicineUniversidade Estadual Paulista (Unesp)Koruyucu, MineKasimoğlu, YeldaSeymen, FigenBayram, MervePatir, AsliErgöz, NihanTuna, Elif B.Gencay, KorayDeeley, KathleenBussaneli, Diego [UNESP]Modesto, AdrianaVieira, Alexandre R.2018-12-11T16:52:03Z2018-12-11T16:52:03Z2018-04-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article307-312application/pdfhttp://dx.doi.org/10.1016/j.oooo.2018.01.007Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, v. 125, n. 4, p. 307-312, 2018.2212-4403http://hdl.handle.net/11449/17070110.1016/j.oooo.2018.01.0072-s2.0-850424802172-s2.0-85042480217.pdfScopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengOral Surgery, Oral Medicine, Oral Pathology and Oral Radiology0,720info:eu-repo/semantics/openAccess2023-10-03T06:01:23Zoai:repositorio.unesp.br:11449/170701Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T13:50:17.420250Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Rethinking isolated cleft lip and palate as a syndrome |
title |
Rethinking isolated cleft lip and palate as a syndrome |
spellingShingle |
Rethinking isolated cleft lip and palate as a syndrome Koruyucu, Mine |
title_short |
Rethinking isolated cleft lip and palate as a syndrome |
title_full |
Rethinking isolated cleft lip and palate as a syndrome |
title_fullStr |
Rethinking isolated cleft lip and palate as a syndrome |
title_full_unstemmed |
Rethinking isolated cleft lip and palate as a syndrome |
title_sort |
Rethinking isolated cleft lip and palate as a syndrome |
author |
Koruyucu, Mine |
author_facet |
Koruyucu, Mine Kasimoğlu, Yelda Seymen, Figen Bayram, Merve Patir, Asli Ergöz, Nihan Tuna, Elif B. Gencay, Koray Deeley, Kathleen Bussaneli, Diego [UNESP] Modesto, Adriana Vieira, Alexandre R. |
author_role |
author |
author2 |
Kasimoğlu, Yelda Seymen, Figen Bayram, Merve Patir, Asli Ergöz, Nihan Tuna, Elif B. Gencay, Koray Deeley, Kathleen Bussaneli, Diego [UNESP] Modesto, Adriana Vieira, Alexandre R. |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Istanbul University Istanbul Medipol University University of Pittsburgh School of Dental Medicine Universidade Estadual Paulista (Unesp) |
dc.contributor.author.fl_str_mv |
Koruyucu, Mine Kasimoğlu, Yelda Seymen, Figen Bayram, Merve Patir, Asli Ergöz, Nihan Tuna, Elif B. Gencay, Koray Deeley, Kathleen Bussaneli, Diego [UNESP] Modesto, Adriana Vieira, Alexandre R. |
description |
Objective: The goal of the present work was to use dental conditions that have been independently associated with cleft lip and palate (CL/P) as a tool to identify a broader collection of individuals to be used for gene identification that lead to clefts. Study design: We studied 1573 DNA samples combining individuals that were born with CL/P or had tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries with the goal to identify genetic associations. We tested 2 single-nucleotide polymorphisms that were located in the vicinity of regions suggested to contribute to supernumerary teeth. Overrepresentation of alleles were determined for combinations of individuals as well as for each individual phenotypic group with an α of.05. Results: We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of the conditions described earlier. When subgroups were tested, associations were found for individuals with hypomineralization. Conclusions: Although we did not test this hypothesis directly in the present study, based on associations reported previously, we believe that CL/P is actually a syndrome of alterations of the dentition, and considering it that way may allow for the identification of genotype-phenotype correlations that may be useful for clinical care. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-12-11T16:52:03Z 2018-12-11T16:52:03Z 2018-04-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1016/j.oooo.2018.01.007 Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, v. 125, n. 4, p. 307-312, 2018. 2212-4403 http://hdl.handle.net/11449/170701 10.1016/j.oooo.2018.01.007 2-s2.0-85042480217 2-s2.0-85042480217.pdf |
url |
http://dx.doi.org/10.1016/j.oooo.2018.01.007 http://hdl.handle.net/11449/170701 |
identifier_str_mv |
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, v. 125, n. 4, p. 307-312, 2018. 2212-4403 10.1016/j.oooo.2018.01.007 2-s2.0-85042480217 2-s2.0-85042480217.pdf |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 0,720 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
307-312 application/pdf |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
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1808128281733496832 |