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

dc.creatorMoreno Uribe, Lina María
dc.creatorArcos Burgos, Oscar Mauricio
dc.creatorMarazita, Mary Louise
dc.creatorKrahn, Katherine
dc.creatorMaher, Brion
dc.creatorCooper, Margaret
dc.creatorValencia Ramírez, Luz Consuelo
dc.creatorLidral, Andrew
dc.date2022-03-20T15:44:02Z
dc.date2022-03-20T15:44:02Z
dc.date2004
dc.date.accessioned2023-08-28T20:32:06Z
dc.date.available2023-08-28T20:32:06Z
dc.identifierMoreno, 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.identifier0148-7299
dc.identifierhttp://hdl.handle.net/10495/26755
dc.identifier10.1002/ajmg.a.20425
dc.identifier1096-8628
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8480656
dc.descriptionABSTRACT: 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.
dc.descriptionCOL0006769
dc.format10
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherWiley-Blackwell
dc.publisherGenética Regeneración y Cáncer
dc.publisherNueva York, Estados Unidos
dc.relationAm. J. Med. Genet.
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectDesequilibrio de ligamiento
dc.subjectLinkage disequilibrium
dc.subjectLabio Leporino
dc.subjectCleft Lip
dc.subjectFisura del Paladar
dc.subjectCleft Palate
dc.subjectLigamiento Genético
dc.subjectGenetic Linkage
dc.subjectHerencia Multifactorial
dc.subjectMultifactorial Inheritance
dc.subjectPredisposición Genética a la Enfermedad
dc.subjectGenetic Predisposition to Disease
dc.titleGenetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/resource_type/c_2df8fbb1
dc.typehttps://purl.org/redcol/resource_type/ART
dc.typeArtículo de investigación


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