GWAS reveals new recessive loci associated with non-syndromic facial clefting

dc.contributor.authorCamargo, Mauricio
dc.contributor.authorRivera, Dora
dc.contributor.authorMoreno, Lina
dc.contributor.authorLidral, Andrew C.
dc.contributor.authorHarper, U.
dc.contributor.authorJones, Marypat
dc.contributor.authorSolomon, Benjamin D.
dc.contributor.authorRoessler, Erich
dc.contributor.authorVelez, Jorge I.
dc.contributor.authorMartinez, Ariel F.
dc.contributor.authorChandrasekharappa, Settara C.
dc.contributor.authorArcos-Burgos, Mauricio
dc.date.accessioned2015-12-07T22:21:46Z
dc.date.issued2012
dc.date.updated2016-02-24T11:10:39Z
dc.description.abstractWe have applied a GWAS to 40 consanguineous families segregating cases of non-syndromic cleft lip with or without cleft palate (NS CL/P) (a total of 160 affected and unaffected individuals) in order to trace potential recessive loci that confer susceptibility to this common facial malformation. Pedigree-based association test (PBAT) analyses reported nominal evidence of association and linkage over SNP markers located at 11q25 (rs4937877, P = 2.7 × 10 -6), 19p12 (rs4324267, P = 1.6 × 10 -5), 5q14.1 (rs4588572, P-value = 3.36 × 10 -5), and 15q21.1 (rs4774497, P = 1.08 × 10 -4). Using the Versatile Gene-Based Association Study to complement the PBAT results, we found clusters of markers located at chromosomes 19p12, 11q25, and 8p23.2 overcome the threshold for GWAS significance (P < 1 × 10 -7). From this study, new recessive loci implicated in NS CL/P include: B3GAT1, GLB1L2, ZNF431, ZNF714, and CSMD1, even though the functional association with the genesis of NS CL/P remains to be elucidated. These results emphasize the importance of using homogeneous populations, phenotypes, and family structures for GWAS combined with gene-based association analyses, and should encourage. other researchers to evaluate these genes on independent patient samples affected by NS CL/P.
dc.identifier.issn1769-7212
dc.identifier.urihttp://hdl.handle.net/1885/20191
dc.publisherElsevier
dc.sourceEuropean Journal of Medical Genetics
dc.subjectKeywords: article; B3GAT1 gene; chromosome 11q; chromosome 15q; chromosome 19p; chromosome 5q; cleft lip; cleft lip palate; cleft palate; CSMD1 gene; female; gene frequency; gene locus; genetic association; genetic linkage; genetic susceptibility; GLB1L2 gene; huma B3GAT1; CSMD1; Facial; GWAS; Non-syndromic clefting; Recessive loci
dc.titleGWAS reveals new recessive loci associated with non-syndromic facial clefting
dc.typeJournal article
local.bibliographicCitation.issue10
local.bibliographicCitation.startpage4
local.contributor.affiliationCamargo, Mauricio, University of Antioquia
local.contributor.affiliationRivera, Dora, University of Antioquia
local.contributor.affiliationMoreno, Lina, University of Iowa
local.contributor.affiliationLidral, Andrew C, University of Iowa
local.contributor.affiliationHarper, U, National Institutes of Health
local.contributor.affiliationJones, Marypat, National Institutes of Health
local.contributor.affiliationSolomon, Benjamin D., National Institutes of Health
local.contributor.affiliationRoessler, Erich, National Institutes of Health
local.contributor.affiliationVelez, Jorge I, National Institutes of Health
local.contributor.affiliationMartinez, Ariel F, National Institutes of Health
local.contributor.affiliationChandrasekharappa, Settara C, National Institutes of Health
local.contributor.affiliationArcos-Burgos, Mauricio (Oscar), College of Medicine, Biology and Environment, ANU
local.contributor.authoremailu5088570@anu.edu.au
local.contributor.authoruidArcos-Burgos, Mauricio (Oscar), u5088570
local.description.embargo2037-12-31
local.description.notesImported from ARIES
local.identifier.absfor060408 - Genomics
local.identifier.ariespublicationu4492120xPUB11
local.identifier.citationvolume55
local.identifier.doi10.1016/j.ejmg.2012.06.005
local.identifier.scopusID2-s2.0-84866431873
local.identifier.thomsonID000309743500002
local.identifier.uidSubmittedByu4492120
local.type.statusPublished Version

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