Journal article
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Nature genetics, Vol.42(6), pp.525-529
06/2010
DOI: 10.1038/ng.580
PMCID: PMC2941216
PMID: 20436469
Abstract
Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 × 10−11; and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 × 10−12) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes remained similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4. Expression studies support a role for MAFB in palatal development.
Details
- Title: Subtitle
- A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
- Creators
- Yah Huei Wu-Chou - Chang Gung Memorial HospitalElizabeth W Pugh - Center for Inherited Disease Research, Johns Hopkins UniversityAlan F Scott - Johns Hopkins University, School of MedicineTao Wu - Johns Hopkins University, School of Public Health Peking University Health Science CenterAlexandre R Vieira - University of Pittsburgh, School of Dental MedicinePeadar N Kirke - Health Research BoardHong Wang - Johns Hopkins University, School of MedicineShangzhi Huang - Peking Union Medical CollegeAnne M Molloy - Trinity College DublinLina M Moreno - Department of Orthodontics, University of IowaJohn M Scott - Trinity College DublinEthylin W Jabs - Johns Hopkins University, School of Medicine Mt. Sinai Medical SchoolMaria A Mansilla - Department of Pediatrics, University of IowaRenato Menezes - University of Pittsburgh, School of Dental MedicineSamuel S Chong - National University of SingaporeJeffrey C Murray - Department of Pediatrics, University of IowaMary L Marazita - University of Pittsburgh, School of Dental MedicineHua Ling - Center for Inherited Disease Research, Johns Hopkins UniversityAline Petrin - Department of Pediatrics, University of IowaEduardo E Castilla - Department of Genetics, Fundação Oswaldo Cruz (FIOCRUZ)Ronald G Munger - Utah State UniversityRolv T Lie - University of BergenMargaret E Cooper - University of Pittsburgh, School of Dental MedicineKimberly F Doheny - Center for Inherited Disease Research, Johns Hopkins UniversityAndrew E Czeizel - Foundation for the Community Control of Hereditary DiseasesKung Yee Liang - Johns Hopkins University, School of Public HealthSun Ha Jee - Epidemiology and Health Promotion, Yonsei UniversityStephen Bullard - Department of Orthodontics, University of IowaLawrence Brody - National Human Genome Research Institute, NIHL Leigh Field - Department of Medical Genetics, University of British ColumbiaKaare Christensen - University of Southern DenmarkJacqueline B Hetmanski - Johns Hopkins University, School of Public HealthMartine Dunnwald - Department of Pediatrics, University of IowaGerald Raymond - Johns Hopkins University, School of MedicineMads Melbye - Statens Serum InstituteBing Shi - West China School of Stomatology, Sichuan UniversityAndrew C Lidral - Department of Orthodontics, University of IowaAllen J Wilcox - National Institute of Environmental Health Science, National Institutes of Health (NIH)Sheng-Chih Jin - Johns Hopkins University, School of Public HealthJames L Mills - National Institute of Child Health and Human Development, NIHRichard A Redett - Johns Hopkins University, School of MedicineElizabeth Leslie - Department of Pediatrics, University of IowaPhilip K Chen - Chang Gung Memorial HospitalXiaoqian Ye - Mt. Sinai Medical School Wuhan UniversityVincent Yeow - KK Women's and Children's HospitalFaith Pangilinan - National Human Genome Research Institute, NIHHolger Schwender - Johns Hopkins University, School of Public HealthTerri H Beaty - Johns Hopkins University, School of Public HealthTanda Murray - Johns Hopkins University, School of Public HealthMauricio Arcos-Burgos - University of Miami, Miller School of MedicineM Daniele Fallin - Johns Hopkins University, School of Public HealthLian Ma - School of Stomatology, Beijing UniversityIngo Ruczinski - Johns Hopkins University, School of Public Health
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.42(6), pp.525-529
- DOI
- 10.1038/ng.580
- PMID
- 20436469
- PMCID
- PMC2941216
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 06/2010
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Orthopedics and Rehabilitation; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Internal Medicine; Iowa Institute of Human Genetics
- Record Identifier
- 9984025452002771
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