{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wolf ZT"],"funding":["NIDCR NIH HHS","NLM NIH HHS"],"pagination":["e1005059"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4370697"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(3)"],"pubmed_abstract":["Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases an"],"journal":["PLoS genetics"],"pubmed_title":["Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate."],"pmcid":["PMC4370697"],"funding_grant_id":["R01 DE022532","R01-DE022532","T15 LM007059","U01 DE020057","R01 DE016148","R01-DE016148","T15-LM007059"],"pubmed_authors":["Wolf ZT","Leslie EJ","Brand HA","Cox TC","Murray JC","Feingold E","Arzi B","Safra N","Wade CM","Willet CE","Deleyiannis FW","McHenry T","Shaffer JR","Sliskovic S","Karmi N","Sanchez C","Wang X","Narayan N","Marazita ML","Bannasch DL"],"additional_accession":[]},"is_claimable":false,"name":"Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.","description":"Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases an","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Mar","modification":"2026-05-04T02:09:27.346Z","creation":"2025-05-18T11:35:09.493Z"},"accession":"S-EPMC4370697","cross_references":{"pubmed":["25798845"],"doi":["10.1371/journal.pgen.1005059"]}}