OBJECTIVE: To identify, in a non-hypothesis manner, novel genetic factors associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P). STUDY DESIGN: We performed a genome-wide association study in a pediatric cohort of European decent consisting of 111 NSCL/P cases and 5951 control subjects. All subjects were consecutively recruited from the Greater Philadelphia area from 2006 to 2009. High throughput genome-wide single nucleotide polymorphism genotyping was carried out with the Illumina Infinium II HumanHap550 BeadChip technology. RESULTS: We observed association at the genome-wide significance level with SNP rs987525 at a locus on 8q24, which harbors no characterized genes to date (P = 9.18 x 10(-8); odds ratio = 2.09, 95% confidence interval = 1.59 to 2.76). While searching for a replication cohort, the same genetic determinant was established through a genome-wide association study of NSCL/P in Germany, so this previous report acts as a de novo replication for our independent observation outlined here. CONCLUSIONS: These results strongly suggest that a locus on 8q24 is involved in the pathogenesis of NSCL/P.
OBJECTIVE: To identify, in a non-hypothesis manner, novel genetic factors associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P). STUDY DESIGN: We performed a genome-wide association study in a pediatric cohort of European decent consisting of 111 NSCL/P cases and 5951 control subjects. All subjects were consecutively recruited from the Greater Philadelphia area from 2006 to 2009. High throughput genome-wide single nucleotide polymorphism genotyping was carried out with the Illumina Infinium II HumanHap550 BeadChip technology. RESULTS: We observed association at the genome-wide significance level with SNP rs987525 at a locus on 8q24, which harbors no characterized genes to date (P = 9.18 x 10(-8); odds ratio = 2.09, 95% confidence interval = 1.59 to 2.76). While searching for a replication cohort, the same genetic determinant was established through a genome-wide association study of NSCL/P in Germany, so this previous report acts as a de novo replication for our independent observation outlined here. CONCLUSIONS: These results strongly suggest that a locus on 8q24 is involved in the pathogenesis of NSCL/P.
Authors: Hong Wang; Tianxiao Zhang; Tao Wu; Jacqueline B Hetmanski; Ingo Ruczinski; Holger Schwender; Kung Yee Liang; Tanda Murray; M Daniele Fallin; Richard J Redett; Gerald V Raymond; Sheng-Chih Jin; Yah-Huei Wu Chou; Philip Kuo-Ting Chen; Vincent Yeow; Samuel S Chong; Felicia S H Cheah; Sun Ha Jee; Ethylin W Jabs; Alan F Scott; Terri H Beaty Journal: Cleft Palate Craniofac J Date: 2011-11-10
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
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
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
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
Authors: Lina M Moreno; Maria Adela Mansilla; Steve A Bullard; Margaret E Cooper; Tamara D Busch; Junichiro Machida; Marla K Johnson; David Brauer; Katherine Krahn; Sandy Daack-Hirsch; Jamie L'heureux; Consuelo Valencia-Ramirez; Dora Rivera; Ana Maria López; Manuel A Moreno; Anne Hing; Edward J Lammer; Marilyn Jones; Kaare Christensen; Rolv T Lie; Astanand Jugessur; Allen J Wilcox; Peter Chines; Elizabeth Pugh; Kim Doheny; Mauricio Arcos-Burgos; Mary L Marazita; Jeffrey C Murray; Andrew C Lidral Journal: Hum Mol Genet Date: 2009-09-24 Impact factor: 6.150
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