Literature DB >> 20023658

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

Elisabeth Mangold1, 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.   

Abstract

We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads. We report two new loci associated with NSCL/P at 17q22 (rs227731, combined P = 1.07 x 10(-8), relative risk in homozygotes = 1.84, 95% CI 1.34-2.53) and 10q25.3 (rs7078160, combined P = 1.92 x 10(-8), relative risk in homozygotes = 2.17, 95% CI 1.32-3.56).

Entities:  

Mesh：

Year:  2009        PMID： 20023658     DOI： 10.1038/ng.506

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


  14 in total

1.  Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system.

Authors:  M Hallonet; T Hollemann; T Pieler; P Gruss
Journal:  Genes Dev       Date:  1999-12-01       Impact factor: 11.361

2.  Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls.

Authors:  Chao-Yu Guo; Kathryn L Lunetta; Anita L DeStefano; L Adrienne Cupples
Journal:  Genet Epidemiol       Date:  2009-01       Impact factor: 2.135

3.  Terminal deletion of the long arm of chromosome 10: a new case with breakpoint in q25.3.

Authors:  B Petersen; H M Strassburg; W Feichtinger; W Kress; M Schmid
Journal:  Am J Med Genet       Date:  1998-04-28

4.  Is there a monosomy 10qter syndrome?

Authors:  M T Mulcahy; P J Pemberton; E Thompson; M Watson
Journal:  Clin Genet       Date:  1982-01       Impact factor: 4.438

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

Authors:  L Henry Goodnough; Samantha A Brugmann; Diane Hu; Jill A Helms
Journal:  Dev Dyn       Date:  2007-07       Impact factor: 3.780

6.  Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

Authors:  Stefanie Birnbaum; Kerstin U Ludwig; Heiko Reutter; Stefan Herms; Michael Steffens; Michele Rubini; Carlotta Baluardo; Melissa Ferrian; Nilma Almeida de Assis; Margrieta A Alblas; Sandra Barth; Jan Freudenberg; Carola Lauster; Gül Schmidt; Martin Scheer; Bert Braumann; Stefaan J Bergé; Rudolf H Reich; Franziska Schiefke; Alexander Hemprich; Simone Pötzsch; Regine P Steegers-Theunissen; Bernd Pötzsch; Susanne Moebus; Bernhard Horsthemke; Franz-Josef Kramer; Thomas F Wienker; Peter A Mossey; Peter Propping; Sven Cichon; Per Hoffmann; Michael Knapp; Markus M Nöthen; Elisabeth Mangold
Journal:  Nat Genet       Date:  2009-03-08       Impact factor: 38.330

7.  Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

Authors:  Satoshi Suzuki; Mary L Marazita; Margaret E Cooper; Nobutomo Miwa; Anne Hing; Astanand Jugessur; Nagato Natsume; Kazuo Shimozato; Naofumi Ohbayashi; Yasushi Suzuki; Teruyuki Niimi; Katsuhiro Minami; Masahiko Yamamoto; Tserendorj J Altannamar; Tudevdorj Erkhembaatar; Hiroo Furukawa; Sandra Daack-Hirsch; Jamie L'heureux; Carla A Brandon; Seth M Weinberg; Katherine Neiswanger; Frederic W B Deleyiannis; Javier E de Salamanca; Alexandre R Vieira; Andrew C Lidral; James F Martin; Jeffrey C Murray
Journal:  Am J Hum Genet       Date:  2009-02-26       Impact factor: 11.025

8.  Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

Authors:  Alexandre R Vieira; Joseph R Avila; Sandra Daack-Hirsch; Ecaterina Dragan; Têmis M Félix; Fedik Rahimov; Jill Harrington; Rebecca R Schultz; Yoriko Watanabe; Marla Johnson; Jennifer Fang; Sarah E O'Brien; Iêda M Orioli; Eduardo E Castilla; David R Fitzpatrick; Rulang Jiang; Mary L Marazita; Jeffrey C Murray
Journal:  PLoS Genet       Date:  2005-12-02       Impact factor: 5.917

9.  Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis.

Authors:  Zunyi Zhang; Yiqiang Song; Xiang Zhao; Xiaoyun Zhang; Cesar Fermin; YiPing Chen
Journal:  Development       Date:  2002-09       Impact factor: 6.868

10.  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
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  160 in total

1.  Candidate pathway based analysis for cleft lip with or without cleft palate.

Authors:  Tian-Xiao Zhang; Terri H Beaty; Ingo Ruczinski
Journal:  Stat Appl Genet Mol Biol       Date:  2012-01-06

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.  Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population.

Authors:  Lingxue Bu; Qianqian Chen; Hong Wang; Tianxiao Zhang; Jacqueline B Hetmanski; Holger Schwender; Margaret Parker; Yah-Huei Wu Chou; Vincent Yeow; Samuel S Chong; Bo Zhang; Ethylin Wang Jabs; Alan F Scott; Terri H Beaty
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2015-08-17

4.  Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.

Authors:  Dongjing Liu; Hong Wang; Holger Schwender; Mary L Marazita; Zhuqing Wang; Yuan Yuan; Ping Wang; Kung Yee Liang; Yah Huei Wu-Chou; Mengying Wang; Bing Shi; Hongping Zhu; Tao Wu; Terri H Beaty
Journal:  Am J Med Genet A       Date:  2017-04-12       Impact factor: 2.802

5.  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

6.  Genome-wide association studies: prospects and challenges for oral health.

Authors:  J R Shaffer; E Feingold; M L Marazita
Journal:  J Dent Res       Date:  2012-05-04       Impact factor: 6.116

Review 7.  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

Review 8.  Genetics of nonsyndromic orofacial clefts.

Authors:  Fedik Rahimov; Astanand Jugessur; Jeffrey C Murray
Journal:  Cleft Palate Craniofac J       Date:  2011-05-05

9.  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

10.  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
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