Genes, Vol. 10, Pages 1023: Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

Genes, Vol. 10, Pages 1023: Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene Genes doi: 10.3390/genes10121023 Authors: Iris ALM van Rooij Kerstin U Ludwig Julia Welzenbach Nina Ishorst Michelle Thonissen Tessel E Galesloot Edwin Ongkosuwito Stefaan J Bergé Khalid Aldhorae Augusto Rojas-Martinez Lambertus ALM Kiemeney Joris Robert Vermeesch Han Brunner Nel Roeleveld Koen Devriendt Titiaan Dormaar Greet Hens Michael Knapp Carine Carels Elisabeth Mangold Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromosome 16p12.1 (p-value of the lead SNV: 4.17 × 10−7). This association was replicated in two of three patient/control replication series (Central European and Yemeni). Gene analysis of the GWAS data prioritized SH3PXD2A ...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research