ArticleEuropean journal of medical genetics2012
GWAS reveals new recessive loci associated with non-syndromic facial clefting.
Article in European journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.Human genetics · 2017Pooled it
- Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.Molecular genetics and genomics : MGG · 2026Article
- Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.medRxiv : the preprint server for health sciences · 2025Article
- Identification of functional non-coding variants associated with orofacial cleft.Nature communications · 2025Article
- Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.HGG advances · 2023Article
- Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.Nature communications · 2023Article
- Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.medRxiv : the preprint server for health sciences · 2023Article
- Genome-wide detection of imprinted differentially methylated regions using nanopore sequencing.eLife · 2022Article
- To Stick or Not to Stick: Adhesions in Orofacial Clefts.Biology · 2022Review
- The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.Frontiers in genetics · 2021Article
- Detecting Gene-Environment Interaction for Maternal Exposures Using Case-Parent Trios Ascertained Through a Case With Non-Syndromic Orofacial Cleft.Frontiers in cell and developmental biology · 2021Article
- Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk.Frontiers in oncology · 2021Article
- A genome-wide scan of cleft lip triads identifies parent-of-origin interaction effects betweenF1000Research · 2019Article
- Craniofacial genetics: Where have we been and where are we going?PLoS genetics · 2018Article
- Article
- Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations withFrontiers in genetics · 2018Article
- A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts.Journal of dental research · 2017Article
- Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.Nature communications · 2017Article
- Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis.Advances and applications in bioinformatics and chemistry : AABC · 2017Article
- An algorithm for direct causal learning of influences on patient outcomes.Artificial intelligence in medicine · 2017Article
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Authors and funding
12 authors.
Funding
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.
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