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

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 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 A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q

2012 ◽  
Vol 10 (8) ◽  
pp. 1521-1531 ◽  
Author(s):  
J. A. HEIT ◽  
S. M. ARMASU ◽  
Y. W. ASMANN ◽  
J. M. CUNNINGHAM ◽  
M. E. MATSUMOTO ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

scholarly journals Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Yimin Sun ◽  
Yongqing Huang ◽  
Aihua Yin ◽  
Yongchu Pan ◽  
Yirui Wang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Locus ◽  
Genome Wide

scholarly journals A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

2007 ◽  
Vol 39 (7) ◽  
pp. 827-829 ◽  
Author(s):  
David A van Heel ◽  
Lude Franke ◽  
Karen A Hunt ◽  
Rhian Gwilliam ◽  
Alexandra Zhernakova ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

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 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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