We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.
- Authors
Patel, Poorav J.; Beaty, Terri H.; Ruczinski, Ingo; Murray, Jeffrey C.; Marazita, Mary L.; Munger, Ronald G.; Hetmanski, Jacqueline B.; Wu, Tao; Murray, Tanda; Rose, Margaret; Redett, Richard J.; Jin, Sheng C.; Lie, Rolv T.; Wu ‐ Chou, Yah ‐ Huei; Wang, Hong; Ye, Xiaoqian; Yeow, Vincent; Chong, Samuel; Jee, Sun H.; Shi, Bing
- 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
- Subjects
DUCHENNE muscular dystrophy; CLEFT palate; BIOMARKERS; GENES; GENETIC polymorphisms; MEDICAL cooperation; RESEARCH; RESEARCH funding; MAXIMUM likelihood statistics; GENETICS; DISEASE risk factors
- Publication
European Journal of Oral Sciences, 2013, Vol 121, Issue 2, p63
- ISSN
0909-8836
- Publication type
Article
- DOI
10.1111/eos.12025