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dc.contributor.author
Carlson, Jenna C.
dc.contributor.author
Standley, Jennifer
dc.contributor.author
Petrin, Aline
dc.contributor.author
Shaffer, John R.
dc.contributor.author
Butali, Azeez
dc.contributor.author
Buxó, Carmen J.
dc.contributor.author
Castilla, Eduardo Enrique
dc.contributor.author
Christensen, Kaare
dc.contributor.author
Deleyiannis, Frederic W.-D.
dc.contributor.author
Hecht, Jacqueline T.
dc.contributor.author
Field, L. Leigh
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Garidkhuu, Ariuntuul
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Moreno Uribe, Lina M.
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Nagato, Natsume
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Orioli, Ieda M.
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Padilla, Carmencita
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Poletta, Fernando Adrián
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Suzuki, Satoshi
dc.contributor.author
Vieira, Alexandre R.
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Wehby, George
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Weinberg, Seth M.
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Beaty, Terri H.
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Feingold, Eleanor
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Murray, Jeffrey C.
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Marazita, Mary L.
dc.contributor.author
Leslie, Elizabeth J.
dc.date.available
2018-05-14T19:52:27Z
dc.date.issued
2017-12
dc.identifier.citation
Carlson, Jenna C.; Standley, Jennifer; Petrin, Aline; Shaffer, John R.; Butali, Azeez; et al.; Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes; Wiley-liss, Div John Wiley & Sons Inc; Genetic Epidemiology; 41; 8; 12-2017; 887-897
dc.identifier.issn
0741-0395
dc.identifier.uri
http://hdl.handle.net/11336/45143
dc.description.abstract
Orofacial clefts (OFCs) are common, complex birth defects with extremely heterogeneous phenotypic presentations. Two common subtypes—cleft lip alone (CL) and CL plus cleft palate (CLP)—are typically grouped into a single phenotype for genetic analysis (i.e., CL with or without cleft palate, CL/P). However, mounting evidence suggests there may be unique underlying pathophysiology and/or genetic modifiers influencing expression of these two phenotypes. To this end, we performed a genome-wide scan for genetic modifiers by directly comparing 450 CL cases with 1,692 CLP cases from 18 recruitment sites across 13 countries from North America, Central or South America, Asia, Europe, and Africa. We identified a region on 16q21 that is strongly associated with different cleft type (P = 5.611 × 10−8). We also identified significant evidence of gene–gene interactions between this modifier locus and two recognized CL/P risk loci: 8q21 and 9q22 (FOXE1) (P = 0.012 and 0.023, respectively). Single nucleotide polymorphism (SNPs) in the 16q21 modifier locus demonstrated significant association with CL over CLP. The marker alleles on 16q21 that increased risk for CL were found at highest frequencies among individuals with a family history of CL (P = 0.003). Our results demonstrate the existence of modifiers for which type of OFC develops and suggest plausible elements responsible for phenotypic heterogeneity, further elucidating the complex genetic architecture of OFCs.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley-liss, Div John Wiley & Sons Inc
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Complex Trait
dc.subject
Genetic Modifier
dc.subject
Gene-Gene Interaction
dc.subject
Orofacial Cleft
dc.subject.classification
Inmunología
dc.subject.classification
Medicina Básica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-03-27T20:00:49Z
dc.journal.volume
41
dc.journal.number
8
dc.journal.pagination
887-897
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Hoboken
dc.description.fil
Fil: Carlson, Jenna C.. University of Pittsburgh; Estados Unidos
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Fil: Standley, Jennifer. University of Iowa; Estados Unidos
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Fil: Petrin, Aline. University of Iowa; Estados Unidos
dc.description.fil
Fil: Shaffer, John R.. University of Pittsburgh; Estados Unidos
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Fil: Butali, Azeez. University of Iowa; Estados Unidos
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Fil: Buxó, Carmen J.. Universidad de Puerto Rico; Puerto Rico
dc.description.fil
Fil: Castilla, Eduardo Enrique. 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
dc.description.fil
Fil: Christensen, Kaare. University of Southern Denmark; Dinamarca
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Fil: Deleyiannis, Frederic W.-D.. State University of Colorado Boulder; Estados Unidos
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Fil: Hecht, Jacqueline T.. University of Texas; Estados Unidos
dc.description.fil
Fil: Field, L. Leigh. University of British Columbia; Canadá
dc.description.fil
Fil: Garidkhuu, Ariuntuul. Tohoku University; Japón. Mongolian National University Of Medical Sciences; Mongolia
dc.description.fil
Fil: Moreno Uribe, Lina M.. University of Iowa; Estados Unidos
dc.description.fil
Fil: Nagato, Natsume. Aichi Gakuin University; Japón
dc.description.fil
Fil: Orioli, Ieda M.. Instituto Nacional de Genética Médica Populacional; Brasil. Universidade Federal do Rio de Janeiro; Brasil
dc.description.fil
Fil: Padilla, Carmencita. University Of The Philippines Manila; Filipinas
dc.description.fil
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
dc.description.fil
Fil: Suzuki, Satoshi. Aichi Gakuin University; Japón
dc.description.fil
Fil: Vieira, Alexandre R.. University of Pittsburgh at Johnstown; Estados Unidos. University of Pittsburgh; Estados Unidos
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Fil: Wehby, George. University of Iowa; Estados Unidos
dc.description.fil
Fil: Weinberg, Seth M.. University of Pittsburgh; Estados Unidos. University of Pittsburgh at Johnstown; Estados Unidos
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Fil: Beaty, Terri H.. University Johns Hopkins; Estados Unidos
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Fil: Feingold, Eleanor. University of Pittsburgh; Estados Unidos
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Fil: Murray, Jeffrey C.. University of Iowa; Estados Unidos
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Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos. University of Pittsburgh at Johnstown; Estados Unidos
dc.description.fil
Fil: Leslie, Elizabeth J.. University of Emory; Estados Unidos
dc.journal.title
Genetic Epidemiology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/gepi.22090
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/gepi.22090
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