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dc.contributor.author
Letra, Ariadne
dc.contributor.author
Menezes, Renato
dc.contributor.author
Cooper, Margaret E.
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Fonseca, Renata F.
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Tropp, Stephen
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Govil, Manika
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Granjeiro, Jose M.
dc.contributor.author
Imoehl, Sandra R.
dc.contributor.author
Mansilla, M. Adela
dc.contributor.author
Murray, Jeffrey C.
dc.contributor.author
Castilla, Eduardo Enrique
dc.contributor.author
Orioli, Ieda Maria
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Czeizel, Andrew E.
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Ma, Lian
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Chiquet, Brett T.
dc.contributor.author
Hecht, Jacqueline T.
dc.contributor.author
Vieira, Alexandre R.
dc.contributor.author
Marazita, Mary L.
dc.date.available
2023-03-21T01:25:48Z
dc.date.issued
2010-08
dc.identifier.citation
Letra, Ariadne; Menezes, Renato; Cooper, Margaret E.; Fonseca, Renata F.; Tropp, Stephen; et al.; CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate; Alliance Communications Group Division Allen Press; Cleft Palate-Craniofacial Journal; 48; 4; 8-2010; 363-370
dc.identifier.issn
1055-6656
dc.identifier.uri
http://hdl.handle.net/11336/191097
dc.description.abstract
Objective: To assess the association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and single-nucleotide polymorphisms (SNPs) within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2). Design: Four SNPs within the CRISPLD2 gene domain (rs1546124, rs8061351, rs2326398, rs4783099) were genotyped to test for association via family-based association methods. Participants: A total of 5826 individuals from 1331 families in which one or more family member is affected with CL(P). Results: Evidence of association was seen for SNP rs1546124 in U.S. (p = .02) and Brazilian (p = .04) Caucasian cohorts. We also found association of SNP rs1546124 with cleft palate alone (CP) in South Americans (Guatemala and ECLAMC) and combined Hispanics (Guatemala, ECLAMC, and Texas Hispanics; p = .03 for both comparisons) and with both cleft lip with cleft palate (CLP; p = .04) and CL(P) (p = .02) in North Americans. Strong evidence of association was found for SNP rs2326398 with CP in Asian populations (p = .003) and with CL(P) in Hispanics (p = .03) and also with bilateral CL(P) in Brazilians (p = .004). In Brazilians, SNP rs8061351 showed association with cleft subgroups incomplete CL(P) (p = .004) and unilateral incomplete CL(P) (p = .003). Prediction of SNP functionality revealed that the C allele in the C471T silent mutation (overrepresented in cases with CL(P) presents two putative exonic splicing enhancer motifs and creates a binding site AP-2 alpha, a transcription factor involved in craniofacial development. Conclusions: Our results support the hypothesis that variants in the CRISPLD2 gene may be involved in the etiology of NS CL(P).
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Alliance Communications Group Division Allen Press
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
CLEFT LIP
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CLEFT PALATE
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CRISPLD2 GENE
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SUBPHENOTYPES
dc.subject.classification
Epidemiología
dc.subject.classification
Ciencias de la Salud
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-03-08T13:00:40Z
dc.journal.volume
48
dc.journal.number
4
dc.journal.pagination
363-370
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Lawrence
dc.description.fil
Fil: Letra, Ariadne. University of Pittsburgh at Johnstown; Estados Unidos. University of Pittsburgh; Estados Unidos
dc.description.fil
Fil: Menezes, Renato. University of Pittsburgh; Estados Unidos. University of Pittsburgh at Johnstown; Estados Unidos
dc.description.fil
Fil: Cooper, Margaret E.. University of Pittsburgh at Johnstown; Estados Unidos. University of Pittsburgh; Estados Unidos
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Fil: Fonseca, Renata F.. Universidade Federal do Rio de Janeiro; Brasil
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Fil: Tropp, Stephen. University of Pittsburgh; Estados Unidos. University of Pittsburgh at Johnstown; Estados Unidos
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Fil: Govil, Manika. University of Pittsburgh; Estados Unidos. University of Pittsburgh at Johnstown; Estados Unidos
dc.description.fil
Fil: Granjeiro, Jose M.. Universidade Federal Fluminense; Brasil
dc.description.fil
Fil: Imoehl, Sandra R.. University of Iowa; Estados Unidos
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Fil: Mansilla, M. Adela. University of Iowa; Estados Unidos
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Fil: Murray, Jeffrey C.. University of Iowa; Estados Unidos
dc.description.fil
Fil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
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Fil: Orioli, Ieda Maria. Universidade Federal do Rio de Janeiro; Brasil
dc.description.fil
Fil: Czeizel, Andrew E.. Foundation For The Community Control Of Hereditary Diseases; Hungría
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Fil: Ma, Lian. Peking University; China
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Fil: Chiquet, Brett T.. University of Texas; Estados Unidos
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Fil: Hecht, Jacqueline T.. University of Texas; Estados Unidos
dc.description.fil
Fil: Vieira, Alexandre R.. University of Pittsburgh; Estados Unidos. University of Pittsburgh at Johnstown; Estados Unidos
dc.description.fil
Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos. University of Pittsburgh at Johnstown; Estados Unidos
dc.journal.title
Cleft Palate-Craniofacial Journal
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1597/09-227
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://journals.sagepub.com/doi/10.1597/09-227
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