Literature DB >> 22863734

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

Kerstin U Ludwig1, Elisabeth Mangold, Stefan Herms, Stefanie Nowak, Heiko Reutter, Anna Paul, Jessica Becker, Ruth Herberz, Taofik AlChawa, Entessar Nasser, Anne C Böhmer, Manuel Mattheisen, Margrieta A Alblas, Sandra Barth, Nadine Kluck, Carola Lauster, Bert Braumann, Rudolf H Reich, Alexander Hemprich, Simone Pötzsch, Bettina Blaumeiser, Nikolaos Daratsianos, Thomas Kreusch, Jeffrey C Murray, Mary L Marazita, Ingo Ruczinski, Alan F Scott, Terri H Beaty, Franz-Josef Kramer, Thomas F Wienker, Regine P Steegers-Theunissen, Michele Rubini, Peter A Mossey, Per Hoffmann, Christoph Lange, Sven Cichon, Peter Propping, Michael Knapp, Markus M Nöthen.   

Abstract

We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P(NSCLP) = 6.51 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

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Year:  2012        PMID: 22863734      PMCID: PMC3598617          DOI: 10.1038/ng.2360

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  15 in total

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Review 2.  Breakthroughs in the genetics of orofacial clefting.

Authors:  Elisabeth Mangold; Kerstin U Ludwig; Markus M Nöthen
Journal:  Trends Mol Med       Date:  2011-08-30       Impact factor: 11.951

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

Authors:  Elisabeth Mangold; Kerstin U Ludwig; Stefanie Birnbaum; Carlotta Baluardo; Melissa Ferrian; Stefan Herms; Heiko Reutter; Nilma Almeida de Assis; Taofik Al Chawa; Manuel Mattheisen; Michael Steffens; Sandra Barth; Nadine Kluck; Anna Paul; Jessica Becker; Carola Lauster; Gül Schmidt; Bert Braumann; Martin Scheer; Rudolf H Reich; Alexander Hemprich; Simone Pötzsch; Bettina Blaumeiser; Susanne Moebus; Michael Krawczak; Stefan Schreiber; Thomas Meitinger; Hans-Erich Wichmann; Regine P Steegers-Theunissen; Franz-Josef Kramer; Sven Cichon; Peter Propping; Thomas F Wienker; Michael Knapp; Michele Rubini; Peter A Mossey; Per Hoffmann; Markus M Nöthen
Journal:  Nat Genet       Date:  2009-12-20       Impact factor: 38.330

4.  Stage-dependent craniofacial defects resulting from Sprouty2 overexpression.

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5.  Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.

Authors:  Jae Woong Sull; Kung-Yee Liang; Jacqueline B Hetmanski; Margaret Daniele Fallin; Roxanne G Ingersoll; Jiwan Park; Yah-Huei Wu-Chou; Philip K Chen; Samuel S Chong; Felicia Cheah; Vincent Yeow; Beyoung Yun Park; Sun Ha Jee; Ethylin W Jabs; Richard Redett; Alan F Scott; Terri H Beaty
Journal:  Eur J Hum Genet       Date:  2009-01-14       Impact factor: 4.246

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Review 7.  The genetics of isolated orofacial clefts: from genotypes to subphenotypes.

Authors:  A Jugessur; P G Farlie; N Kilpatrick
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8.  A dosage-dependent role for Spry2 in growth and patterning during palate development.

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Journal:  Mech Dev       Date:  2007-07-10       Impact factor: 1.882

9.  Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.

Authors:  Fedik Rahimov; Mary L Marazita; Axel Visel; Margaret E Cooper; Michael J Hitchler; Michele Rubini; Frederick E Domann; Manika Govil; Kaare Christensen; Camille Bille; Mads Melbye; Astanand Jugessur; Rolv T Lie; Allen J Wilcox; David R Fitzpatrick; Eric D Green; Peter A Mossey; Julian Little; Regine P Steegers-Theunissen; Len A Pennacchio; Brian C Schutte; Jeffrey C Murray
Journal:  Nat Genet       Date:  2008-10-05       Impact factor: 38.330

10.  Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice.

Authors:  A Mansouri; A Stoykova; M Torres; P Gruss
Journal:  Development       Date:  1996-03       Impact factor: 6.868

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  144 in total

1.  Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

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Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

2.  Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.

Authors:  Yan Yan Sweat; Mason Sweat; Maurisa Mansaray; Huojun Cao; Steven Eliason; Waisu L Adeyemo; Lord J J Gowans; Mekonen A Eshete; Deepti Anand; Camille Chalkley; Irfan Saadi; Salil A Lachke; Azeez Butali; Brad A Amendt
Journal:  Dev Biol       Date:  2019-11-23       Impact factor: 3.582

3.  Gene-Gene Interaction Among WNT Genes for Oral Cleft in Trios.

Authors:  Qing Li; Yoonhee Kim; Bhoom Suktitipat; Jacqueline B Hetmanski; Mary L Marazita; Priya Duggal; Terri H Beaty; Joan E Bailey-Wilson
Journal:  Genet Epidemiol       Date:  2015-02-06       Impact factor: 2.135

Review 4.  Genetics of cleft lip and cleft palate.

Authors:  Elizabeth J Leslie; Mary L Marazita
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

5.  Long-range enhancers regulating Myc expression are required for normal facial morphogenesis.

Authors:  Veli Vural Uslu; Massimo Petretich; Sandra Ruf; Katja Langenfeld; Nuno A Fonseca; John C Marioni; François Spitz
Journal:  Nat Genet       Date:  2014-05-25       Impact factor: 38.330

6.  MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate.

Authors:  Wei Wang; Xiao-Hui Jiao; Xiao-Ping Wang; Xiang-Yu Sun; Chen Dong
Journal:  Genet Test Mol Biomarkers       Date:  2016-05-11

7.  Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.

Authors:  Jenna C Carlson; Nichole L Nidey; Azeez Butali; Carmen J Buxo; Kaare Christensen; Frederic W-D Deleyiannis; Jacqueline T Hecht; L Leigh Field; Lina M Moreno-Uribe; Ieda M Orioli; Fernando A Poletta; Carmencita Padilla; Alexandre R Vieira; Seth M Weinberg; George L Wehby; Eleanor Feingold; Jeffrey C Murray; Mary L Marazita; Elizabeth J Leslie
Journal:  Genet Epidemiol       Date:  2018-09-11       Impact factor: 2.135

8.  Gene-Gene Interactions among SPRYs for Nonsyndromic Cleft Lip/Palate.

Authors:  R Zhou; M Wang; W Li; S Wang; Z Zhou; J Li; T Wu; H Zhu; T H Beaty
Journal:  J Dent Res       Date:  2018-10-01       Impact factor: 6.116

9.  Genomic analyses in African populations identify novel risk loci for cleft palate.

Authors:  Azeez Butali; Peter A Mossey; Wasiu L Adeyemo; Mekonen A Eshete; Lord J J Gowans; Tamara D Busch; Deepti Jain; Wenjie Yu; Liu Huan; Cecelia A Laurie; Cathy C Laurie; Sarah Nelson; Mary Li; Pedro A Sanchez-Lara; William P Magee; Kathleen S Magee; Allyn Auslander; Frederick Brindopke; Denise M Kay; Michele Caggana; Paul A Romitti; James L Mills; Rosemary Audu; Chika Onwuamah; Ganiyu O Oseni; Arwa Owais; Olutayo James; Peter B Olaitan; Babatunde S Aregbesola; Ramat O Braimah; Fadekemi O Oginni; Ayodeji O Oladele; Saidu A Bello; Jennifer Rhodes; Rita Shiang; Peter Donkor; Solomon Obiri-Yeboah; Fareed Kow Nanse Arthur; Peter Twumasi; Pius Agbenorku; Gyikua Plange-Rhule; Alexander Acheampong Oti; Olugbenga M Ogunlewe; Afisu A Oladega; Adegbayi A Adekunle; Akinwunmi O Erinoso; Olatunbosun O Adamson; Abosede A Elufowoju; Oluwanifemi I Ayelomi; Taiye Hailu; Abiye Hailu; Yohannes Demissie; Miliard Derebew; Steve Eliason; Miguel Romero-Bustillous; Cynthia Lo; James Park; Shaan Desai; Muiawa Mohammed; Firke Abate; Lukman O Abdur-Rahman; Deepti Anand; Irfaan Saadi; Abimibola V Oladugba; Salil A Lachke; Brad A Amendt; Charles N Rotimi; Mary L Marazita; Robert A Cornell; Jeffrey C Murray; Adebowale A Adeyemo
Journal:  Hum Mol Genet       Date:  2019-03-15       Impact factor: 6.150

10.  Ear Infection in Isolated Cleft Lip: Etiological Implications.

Authors:  Teresa A Ruegg; Margaret E Cooper; Elizabeth J Leslie; Matthew D Ford; George L Wehby; Frederic W B Deleyiannis; Andrew E Czeizel; Jacqueline T Hecht; Mary L Marazita; Seth M Weinberg
Journal:  Cleft Palate Craniofac J       Date:  2015-07-08
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