Camargo, MauricioRivera, DoraMoreno, LinaLidral, Andrew C.Harper, U.Jones, MarypatSolomon, Benjamin D.Roessler, ErichVelez, Jorge I.Martinez, Ariel F.Chandrasekharappa, Settara C.Arcos-Burgos, Mauricio2015-12-071769-7212http://hdl.handle.net/1885/20191We 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.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 lociGWAS reveals new recessive loci associated with non-syndromic facial clefting201210.1016/j.ejmg.2012.06.0052016-02-24