GWAS reveals new recessive loci associated with non-syndromic facial clefting
dc.contributor.author | Camargo, Mauricio | |
dc.contributor.author | Rivera, Dora | |
dc.contributor.author | Moreno, Lina | |
dc.contributor.author | Lidral, Andrew C. | |
dc.contributor.author | Harper, U. | |
dc.contributor.author | Jones, Marypat | |
dc.contributor.author | Solomon, Benjamin D. | |
dc.contributor.author | Roessler, Erich | |
dc.contributor.author | Velez, Jorge I. | |
dc.contributor.author | Martinez, Ariel F. | |
dc.contributor.author | Chandrasekharappa, Settara C. | |
dc.contributor.author | Arcos-Burgos, Mauricio | |
dc.date.accessioned | 2015-12-07T22:21:46Z | |
dc.date.issued | 2012 | |
dc.date.updated | 2016-02-24T11:10:39Z | |
dc.description.abstract | We 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.issn | 1769-7212 | |
dc.identifier.uri | http://hdl.handle.net/1885/20191 | |
dc.publisher | Elsevier | |
dc.source | European Journal of Medical Genetics | |
dc.subject | Keywords: 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.title | GWAS reveals new recessive loci associated with non-syndromic facial clefting | |
dc.type | Journal article | |
local.bibliographicCitation.issue | 10 | |
local.bibliographicCitation.startpage | 4 | |
local.contributor.affiliation | Camargo, Mauricio, University of Antioquia | |
local.contributor.affiliation | Rivera, Dora, University of Antioquia | |
local.contributor.affiliation | Moreno, Lina, University of Iowa | |
local.contributor.affiliation | Lidral, Andrew C, University of Iowa | |
local.contributor.affiliation | Harper, U, National Institutes of Health | |
local.contributor.affiliation | Jones, Marypat, National Institutes of Health | |
local.contributor.affiliation | Solomon, Benjamin D., National Institutes of Health | |
local.contributor.affiliation | Roessler, Erich, National Institutes of Health | |
local.contributor.affiliation | Velez, Jorge I, National Institutes of Health | |
local.contributor.affiliation | Martinez, Ariel F, National Institutes of Health | |
local.contributor.affiliation | Chandrasekharappa, Settara C, National Institutes of Health | |
local.contributor.affiliation | Arcos-Burgos, Mauricio (Oscar), College of Medicine, Biology and Environment, ANU | |
local.contributor.authoremail | u5088570@anu.edu.au | |
local.contributor.authoruid | Arcos-Burgos, Mauricio (Oscar), u5088570 | |
local.description.embargo | 2037-12-31 | |
local.description.notes | Imported from ARIES | |
local.identifier.absfor | 060408 - Genomics | |
local.identifier.ariespublication | u4492120xPUB11 | |
local.identifier.citationvolume | 55 | |
local.identifier.doi | 10.1016/j.ejmg.2012.06.005 | |
local.identifier.scopusID | 2-s2.0-84866431873 | |
local.identifier.thomsonID | 000309743500002 | |
local.identifier.uidSubmittedBy | u4492120 | |
local.type.status | Published Version |
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