scholarly journals A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

2016 ◽  
pp. ddw104 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jenna C. Carlson ◽  
John R. Shaffer ◽  
Eleanor Feingold ◽  
George Wehby ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide

scholarly journals Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

2009 ◽  
Vol 42 (1) ◽  
pp. 24-26 ◽  
Author(s):  
Elisabeth Mangold ◽  
Kerstin U Ludwig ◽  
Stefanie Birnbaum ◽  
Carlotta Baluardo ◽  
Melissa Ferrian ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide

scholarly journals Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

2010 ◽  
Vol 42 (8) ◽  
pp. 727-727 ◽  
Author(s):  
Terri H Beaty ◽  
Jeffrey C Murray ◽  
Mary L Marazita ◽  
Ronald G Munger ◽  
Ingo Ruczinski Jacqueline B Hetmanski ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

scholarly journals 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 ◽  
2019 ◽  
Vol 10 (12) ◽  
pp. 1023 ◽  
Author(s):  
Iris ALM van Rooij ◽  
Kerstin U Ludwig ◽  
Julia Welzenbach ◽  
Nina Ishorst ◽  
Michelle Thonissen ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Susceptibility Gene ◽  
Small Sample ◽  
Genome Wide Association ◽  
P Value ◽  
Genome Wide ◽  
A Genome

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 at chromosome 10q24.33 as a candidate gene for nsCL/P. To date, support for this gene as a cleft gene has been restricted to data from zebrafish and a knockout mouse model. The present GWAS was the first to implicate SH3PXD2A in non-syndromic cleft formation in humans. In summary, although performed in a relatively small sample, the present GWAS generated novel insights into nsCL/P etiology.

A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24

2009 ◽  
Vol 155 (6) ◽  
pp. 909-913 ◽  
Author(s):  
Struan F.A. Grant ◽  
Kai Wang ◽  
Haitao Zhang ◽  
Wendy Glaberson ◽  
Kiran Annaiah ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome

scholarly journals A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

2010 ◽  
Vol 42 (6) ◽  
pp. 525-529 ◽  
Author(s):  
Terri H Beaty ◽  
Jeffrey C Murray ◽  
Mary L Marazita ◽  
Ronald G Munger ◽  
Ingo Ruczinski ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study

2016 ◽  
Vol 83 (3) ◽  
pp. 265-268 ◽  
Author(s):  
Adrianna Mostowska ◽  
Kamil K. Hozyasz ◽  
Piotr Wójcicki ◽  
Barbara Biedziak ◽  
Joanna Wesoły ◽  
...  
Keyword(s):  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Cleft Lip And Palate ◽  
Genome Wide Association ◽  
Polish Population ◽  
Orofacial Clefts ◽  
New Genes ◽  
Genome Wide ◽  
History Of

The project “Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study” is a case-control study in a group of unrelated subjects with non-syndromic cleft lip with or without cleft palate (NSCL/P) and healthy individuals with no family history of clefting or other congenital disorders. The overall goal of this grant proposal is to identify novel genetic factors, which can play a significant role in the pathogenesis of orofacial clefts in the Polish population. To accomplish the proposed aim, a two stage genome-wide association study will be performed. In the first stage, Illumina's HumanOmni Express BeadChips arrays will be used to genotype over 700,000 polymorphisms in NSCL/P patients and controls. In the second stage, SNPs showing the most compelling association with the risk of orofacial clefts will be tested in an independent sample set using standard genotyping methods. This research project is expected to be completed in July 2015.

Family-based genome-wide association study in Patagonia confirms the association of theDMDlocus and cleft lip and palate

2015 ◽  
Vol 123 (5) ◽  
pp. 381-384 ◽  
Author(s):  
Renata F. Fonseca ◽  
Flávia M. de Carvalho ◽  
Fernando A. Poletta ◽  
David Montaner ◽  
Joaquin Dopazo ◽  
...  
Keyword(s):  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Cleft Lip And Palate ◽  
Genome Wide Association ◽  
Genome Wide ◽  
Family Based

scholarly journals A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

2016 ◽  
Vol 98 (4) ◽  
pp. 744-754 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Huan Liu ◽  
Jenna C. Carlson ◽  
John R. Shaffer ◽  
Eleanor Feingold ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Missense Variant ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome
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