Journal article
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
Nature genetics, Vol.44(9), pp.968-971
09/2012
DOI: 10.1038/ng.2360
PMCID: PMC3598617
PMID: 22863734
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).
Details
- Title: Subtitle
- Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
- Creators
- Kerstin U Ludwig - Institute of Human Genetics, University of Bonn, Bonn, GermanyElisabeth Mangold - Institute of Human Genetics, University of Bonn, Bonn, GermanyStefan Herms - Institute of Human Genetics, University of Bonn, Bonn, GermanyStefanie Nowak - Institute of Human Genetics, University of Bonn, Bonn, GermanyHeiko Reutter - Institute of Human Genetics, University of Bonn, Bonn, GermanyAnna Paul - Department of Otolaryngology, Asklepios Klinik Altona, Hamburg, GermanyJessica Becker - Institute of Human Genetics, University of Bonn, Bonn, GermanyRuth Herberz - Institute of Human Genetics, University of Bonn, Bonn, GermanyTaofik AlChawa - Institute of Human Genetics, University of Bonn, Bonn, GermanyEntessar Nasser - Institute of Human Genetics, University of Bonn, Bonn, GermanyAnne C Böhmer - Institute of Human Genetics, University of Bonn, Bonn, GermanyManuel Mattheisen - Institute of Human Genetics, University of Bonn, Bonn, GermanyMargrieta A Alblas - Institute of Human Genetics, University of Bonn, Bonn, GermanySandra Barth - Institute of Human Genetics, University of Bonn, Bonn, GermanyNadine Kluck - Institute of Human Genetics, University of Bonn, Bonn, GermanyCarola Lauster - Department of Cleft Lip and Cleft Palate Surgery, Humboldt University of Berlin, Berlin, GermanyBert Braumann - Department of Orthodontics, University of Cologne, Cologne, GermanyRudolf H Reich - Department of Oral and Maxillofacial Plastic Surgery, University of Bonn, Bonn, GermanyAlexander Hemprich - Department of Oral and Maxillofacial Surgery, University of Leipzig, Leipzig, GermanySimone Pötzsch - Monitoring of Congenital Malformations Saxony Anhalt, University of Magdeburg, Magdeburg, GermanyBettina Blaumeiser - Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, BelgiumNikolaos Daratsianos - Department of Orthodontics, University of Bonn, Bonn, GermanyThomas Kreusch - Department of Oral and Maxillofacial Surgery, Head and Neck Centre, Asklepios Klinik Nord, Heidberg, Hamburg, GermanyJeffrey C Murray - Department of Pediatrics, University of Iowa, Iowa City, Iowa, USAMary L Marazita - Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USAIngo Ruczinski - Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, Maryland, USAAlan F Scott - Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USATerri H Beaty - Department of Epidemiology, Johns Hopkins University School of Public Health, Baltimore, Maryland, USAFranz-Josef Kramer - Department of Oral and Maxillofacial Surgery, University of Göttingen, Göttingen, GermanyThomas F Wienker - Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, GermanyRegine P Steegers-Theunissen - Department of Obstetrics and Gynecology, Erasmus Medical Center, University Medical Center, Rotterdam, The NetherlandsMichele Rubini - Department of Experimental and Diagnostic Medicine, Medical Genetics Unit, University of Ferrara, Ferrara, ItalyPeter A Mossey - Orthodontic Unit, Dental Hospital & School, University of Dundee, Dundee, UKPer Hoffmann - Institute of Human Genetics, University of Bonn, Bonn, GermanyChristoph Lange - Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USASven Cichon - Institute of Human Genetics, University of Bonn, Bonn, GermanyPeter Propping - Institute of Human Genetics, University of Bonn, Bonn, GermanyMichael Knapp - Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, GermanyMarkus M Nöthen - Institute of Human Genetics, University of Bonn, Bonn, Germany
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.44(9), pp.968-971
- DOI
- 10.1038/ng.2360
- PMID
- 22863734
- PMCID
- PMC3598617
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Grant note
- P60 DE013078 || DE / National Institute of Dental and Craniofacial Research : NIDCR R21 DE013707 || DE / National Institute of Dental and Craniofacial Research : NIDCR
- Language
- English
- Date published
- 09/2012
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025338202771
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