Journal article
X‐linked markers in the Duchenne muscular dystrophy gene associated with oral clefts
European journal of oral sciences, Vol.121(2), pp.63-68
04/2013
DOI: 10.1111/eos.12025
PMCID: PMC3600648
PMID: 23489894
Abstract
As part of an international consortium, case–parent trios were collected for a genome‐wide association study of isolated, non‐syndromic oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP). Non‐syndromic oral clefts have a complex and heterogeneous etiology. Risk is influenced by genes and environmental factors, and differs markedly by gender. Family‐based association tests (FBAT) were used on 14,486 single nucleotide polymorphisms (SNPs) spanning the X chromosome, stratified by type of cleft and racial group. Significant results, even after multiple‐comparisons correction, were obtained for the Duchenne muscular dystrophy (DMD) gene, the largest single gene in the human genome, among CL/P (i.e. both CL and CLP combined) trios. When stratified into groups of European and Asian ancestry, stronger signals were obtained for Asian subjects. Although conventional sliding‐window haplotype analysis showed no increase in significance, selected combinations of the 25 most significant SNPs in the DMD gene identified four SNPs together that attained genome‐wide significance among Asian CL/P trios, raising the possibility of interaction between distant SNPs within the DMD gene.
Details
- Title: Subtitle
- X‐linked markers in the Duchenne muscular dystrophy gene associated with oral clefts
- Creators
- Poorav J Patel - Johns Hopkins UniversityTerri H Beaty - Johns Hopkins UniversityIngo Ruczinski - Johns Hopkins UniversityJeffrey C Murray - University of IowaMary L Marazita - University of PittsburghRonald G Munger - Utah State UniversityJacqueline B Hetmanski - Johns Hopkins UniversityTao Wu - Peking University Health Science CenterTanda Murray - Johns Hopkins UniversityMargaret Rose - Johns Hopkins UniversityRichard J Redett - Johns Hopkins UniversitySheng C Jin - Johns Hopkins UniversityRolv T Lie - University of BergenYah‐Huei Wu‐Chou - Chang Gung Memorial HospitalHong Wang - Peking University Health Science CenterXiaoqian Ye - Wuhan UniversityVincent Yeow - KK Women's & Children's HospitalSamuel Chong - National University of SingaporeSun H Jee - Yonsei UniversityBing Shi - Sichuan UniversityAlan F Scott - Johns Hopkins University
- Resource Type
- Journal article
- Publication Details
- European journal of oral sciences, Vol.121(2), pp.63-68
- DOI
- 10.1111/eos.12025
- PMID
- 23489894
- PMCID
- PMC3600648
- NLM abbreviation
- Eur J Oral Sci
- ISSN
- 0909-8836
- eISSN
- 1600-0722
- Number of pages
- 6
- Grant note
- US National Institutes of Health (NIH)
- Language
- English
- Date published
- 04/2013
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Internal Medicine
- Record Identifier
- 9984025421602771
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