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X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts

Authors
 Poorav J. Patel  ;  Terri H. Beaty  ;  Ingo Ruczinski  ;  Jeffrey C. Murray  ;  Mary L. Marazita  ;  Ronald G. Munger  ;  Jacqueline B. Hetmanski  ;  Tao Wu  ;  Tanda Murray  ;  Margaret Rose  ;  Richard J. Redett  ;  Sheng C. Jin  ;  Rolv T. Lie  ;  Yah-Huei Wu-Chou  ;  Hong Wang  ;  Xiaoqian Ye  ;  Vincent Yeow  ;  Samuel Chong  ;  Sun H. Jee  ;  Bing Shi  ;  Alan F. Scott 
Citation
 EUROPEAN JOURNAL OF ORAL SCIENCES, Vol.121(2) : 63-68, 2013 
Journal Title
 EUROPEAN JOURNAL OF ORAL SCIENCES 
ISSN
 0909-8836 
Issue Date
2013
MeSH
Adult ; Asian Continental Ancestry Group/genetics* ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; European Continental Ancestry Group/genetics* ; Female ; Genes, X-Linked/physiology* ; Genetic Markers* ; Genome-Wide Association Study/methods ; Haplotypes/genetics ; Haplotypes/physiology ; Humans ; Male ; Muscular Dystrophy, Duchenne/genetics* ; Polymorphism, Single Nucleotide ; Principal Component Analysis ; Risk
Keywords
case-parent trios ; Duchenne muscular dystrophy(DMD) ; family-based association ; oral clefts ; X-linked
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.
Files in This Item:
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DOI
10.1111/eos.12025
Appears in Collections:
4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers
Yonsei Authors
Jee, Sun Ha(지선하) ORCID logo https://orcid.org/0000-0001-9519-3068
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/87184
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