Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio

ABSTRACT: Non-syndromic cleft lip with or withoutcleft palate (CL/P) is a genetically complexbirth defect, with a prevalence from 1/500 to1/1,000 live births. Evidence from linkageand linkage disequilibrium studies is con-tradictory suggesting that heterogeneity be-tween study populations may exist....

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Autores:
Moreno Uribe, Lina María
Arcos Burgos, Oscar Mauricio
Marazita, Mary Louise
Krahn, Katherine
Maher, Brion
Cooper, Margaret
Valencia Ramírez, Luz Consuelo
Lidral, Andrew
Tipo de recurso:
Article of investigation
Fecha de publicación:
2004
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/26755
Acceso en línea:
http://hdl.handle.net/10495/26755
Palabra clave:
Desequilibrio de ligamiento
Linkage disequilibrium
Labio Leporino
Cleft Lip
Fisura del Paladar
Cleft Palate
Ligamiento Genético
Genetic Linkage
Herencia Multifactorial
Multifactorial Inheritance
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-nd/2.5/co/
id UDEA2_c763d4669703f59ea034a1089c653e97
oai_identifier_str oai:bibliotecadigital.udea.edu.co:10495/26755
network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
title Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
spellingShingle Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
Desequilibrio de ligamiento
Linkage disequilibrium
Labio Leporino
Cleft Lip
Fisura del Paladar
Cleft Palate
Ligamiento Genético
Genetic Linkage
Herencia Multifactorial
Multifactorial Inheritance
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
title_short Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
title_full Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
title_fullStr Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
title_full_unstemmed Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
title_sort Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
dc.creator.fl_str_mv Moreno Uribe, Lina María
Arcos Burgos, Oscar Mauricio
Marazita, Mary Louise
Krahn, Katherine
Maher, Brion
Cooper, Margaret
Valencia Ramírez, Luz Consuelo
Lidral, Andrew
dc.contributor.author.none.fl_str_mv Moreno Uribe, Lina María
Arcos Burgos, Oscar Mauricio
Marazita, Mary Louise
Krahn, Katherine
Maher, Brion
Cooper, Margaret
Valencia Ramírez, Luz Consuelo
Lidral, Andrew
dc.subject.decs.none.fl_str_mv Desequilibrio de ligamiento
Linkage disequilibrium
Labio Leporino
Cleft Lip
Fisura del Paladar
Cleft Palate
Ligamiento Genético
Genetic Linkage
Herencia Multifactorial
Multifactorial Inheritance
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
topic Desequilibrio de ligamiento
Linkage disequilibrium
Labio Leporino
Cleft Lip
Fisura del Paladar
Cleft Palate
Ligamiento Genético
Genetic Linkage
Herencia Multifactorial
Multifactorial Inheritance
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
description ABSTRACT: Non-syndromic cleft lip with or withoutcleft palate (CL/P) is a genetically complexbirth defect, with a prevalence from 1/500 to1/1,000 live births. Evidence from linkageand linkage disequilibrium studies is con-tradictory suggesting that heterogeneity be-tween study populations may exist. A recentreport of a genome widescan in 92 sib pairsfrom the United Kingdom revealed sugges-tive linkage to 10 loci [Prescott et al., 2000].The purpose of this study is to replicate thoseresults and evaluate additional candidategenes in 49 Colombian and 13 Ohio families.Genotypes were obtained for STRPs at 1p36,2p13 (TGFA), 4p16 (MSX1), 6p23-25, 6q25-27,8q23-24, 11p12-q13, 12q13, 14q24 (TGFB3),16q22-24, 17q12-21 (RARA), and Xcen-q21.Linkage was performed using parametric(dominant and recessive models) and non-parametric (GenehunterNPL and SimIBD)analyses. In addition, heterogeneity wasanalyzed using GenehunterHLOD, andassociation determined by the TDT. TheColombianfamiliesshowedsignificantSimIBD results for 11p12-q13 (P¼0.034),12q13 (P¼0.015), 16q22-24 (0.01), and 17q12-21 (0.009), while the Ohio families showedsignificant SimIBD results for 1p36 (P¼0.02),TGFA (P¼0.005), 6p23 (P¼0.004), 11p12-q13(P¼0.048) and significant NPL results forTGFA (NPL¼3.01,P¼0.009), 4p16 (MNPL¼2.07,P¼0.03) and 12q13 (SNPL¼3.55,P¼0.007). Significant association results wereobtained only for the Colombian familiesin the regions 1p36 (P¼0.046), 6p23-25(P¼0.020), and 12q13 (P¼0.046). In additionseveral families yielded LOD scores rangingfrom 1.09 to 1.73, for loci at 4p16, 6p23-25,16q22-24, and 17q13. These results confirmprevious reports for these loci. However, thedifferences between the two populationssuggest that population specific locus het-erogeneity exists.
publishDate 2004
dc.date.issued.none.fl_str_mv 2004
dc.date.accessioned.none.fl_str_mv 2022-03-20T15:44:02Z
dc.date.available.none.fl_str_mv 2022-03-20T15:44:02Z
dc.type.spa.fl_str_mv info:eu-repo/semantics/article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
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dc.type.local.spa.fl_str_mv Artículo de investigación
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status_str publishedVersion
dc.identifier.citation.spa.fl_str_mv Moreno, L., Arcos, M., Marazita, M., Krahn, K., Maher, B, Cooper, M., Valencia, C. and Lidral, A. (2004), Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio. Am. J. Med. Genet., 125A: 135-144. https://doi.org/10.1002/ajmg.a.20425
dc.identifier.issn.none.fl_str_mv 0148-7299
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/26755
dc.identifier.doi.none.fl_str_mv 10.1002/ajmg.a.20425
dc.identifier.eissn.none.fl_str_mv 1096-8628
identifier_str_mv Moreno, L., Arcos, M., Marazita, M., Krahn, K., Maher, B, Cooper, M., Valencia, C. and Lidral, A. (2004), Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio. Am. J. Med. Genet., 125A: 135-144. https://doi.org/10.1002/ajmg.a.20425
0148-7299
10.1002/ajmg.a.20425
1096-8628
url http://hdl.handle.net/10495/26755
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Am. J. Med. Genet.
dc.rights.spa.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rights.accessrights.spa.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.creativecommons.spa.fl_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/2.5/co/
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.format.extent.spa.fl_str_mv 10
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dc.publisher.spa.fl_str_mv Wiley-Blackwell
dc.publisher.group.spa.fl_str_mv Genética Regeneración y Cáncer
dc.publisher.place.spa.fl_str_mv Nueva York, Estados Unidos
institution Universidad de Antioquia
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spelling Moreno Uribe, Lina MaríaArcos Burgos, Oscar MauricioMarazita, Mary LouiseKrahn, KatherineMaher, BrionCooper, MargaretValencia Ramírez, Luz ConsueloLidral, Andrew2022-03-20T15:44:02Z2022-03-20T15:44:02Z2004Moreno, L., Arcos, M., Marazita, M., Krahn, K., Maher, B, Cooper, M., Valencia, C. and Lidral, A. (2004), Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio. Am. J. Med. Genet., 125A: 135-144. https://doi.org/10.1002/ajmg.a.204250148-7299http://hdl.handle.net/10495/2675510.1002/ajmg.a.204251096-8628ABSTRACT: Non-syndromic cleft lip with or withoutcleft palate (CL/P) is a genetically complexbirth defect, with a prevalence from 1/500 to1/1,000 live births. Evidence from linkageand linkage disequilibrium studies is con-tradictory suggesting that heterogeneity be-tween study populations may exist. A recentreport of a genome widescan in 92 sib pairsfrom the United Kingdom revealed sugges-tive linkage to 10 loci [Prescott et al., 2000].The purpose of this study is to replicate thoseresults and evaluate additional candidategenes in 49 Colombian and 13 Ohio families.Genotypes were obtained for STRPs at 1p36,2p13 (TGFA), 4p16 (MSX1), 6p23-25, 6q25-27,8q23-24, 11p12-q13, 12q13, 14q24 (TGFB3),16q22-24, 17q12-21 (RARA), and Xcen-q21.Linkage was performed using parametric(dominant and recessive models) and non-parametric (GenehunterNPL and SimIBD)analyses. In addition, heterogeneity wasanalyzed using GenehunterHLOD, andassociation determined by the TDT. TheColombianfamiliesshowedsignificantSimIBD results for 11p12-q13 (P¼0.034),12q13 (P¼0.015), 16q22-24 (0.01), and 17q12-21 (0.009), while the Ohio families showedsignificant SimIBD results for 1p36 (P¼0.02),TGFA (P¼0.005), 6p23 (P¼0.004), 11p12-q13(P¼0.048) and significant NPL results forTGFA (NPL¼3.01,P¼0.009), 4p16 (MNPL¼2.07,P¼0.03) and 12q13 (SNPL¼3.55,P¼0.007). Significant association results wereobtained only for the Colombian familiesin the regions 1p36 (P¼0.046), 6p23-25(P¼0.020), and 12q13 (P¼0.046). In additionseveral families yielded LOD scores rangingfrom 1.09 to 1.73, for loci at 4p16, 6p23-25,16q22-24, and 17q13. These results confirmprevious reports for these loci. However, thedifferences between the two populationssuggest that population specific locus het-erogeneity exists.COL000676910application/pdfengWiley-BlackwellGenética Regeneración y CáncerNueva York, Estados Unidosinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTArtículo de investigaciónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-nd/4.0/Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and OhioDesequilibrio de ligamientoLinkage disequilibriumLabio LeporinoCleft LipFisura del PaladarCleft PalateLigamiento GenéticoGenetic LinkageHerencia MultifactorialMultifactorial InheritancePredisposición Genética a la EnfermedadGenetic Predisposition to DiseaseAm. J. Med. Genet.American Journal of Medical Genetics135144125A2ORIGINALMorenoLina_2004_ GeneticCleftLipFamilies.pdfMorenoLina_2004_ GeneticCleftLipFamilies.pdfArtículo de investigaciónapplication/pdf87704http://bibliotecadigital.udea.edu.co/bitstream/10495/26755/1/MorenoLina_2004_%20GeneticCleftLipFamilies.pdf6bf30814bde5e54991c9591b40d064d4MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8823http://bibliotecadigital.udea.edu.co/bitstream/10495/26755/2/license_rdfb88b088d9957e670ce3b3fbe2eedbc13MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/26755/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD5310495/26755oai:bibliotecadigital.udea.edu.co:10495/267552022-03-20 10:46:25.47Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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