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Title: X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts
Authors: Patel, P.J.
Beaty, T.H.
Ruczinski, I.
Murray, J.C.
Marazita, M.L.
Munger, R.G.
Hetmanski, J.B.
Wu, T.
Murray, T.
Rose, M.
Redett, R.J.
Jin, S.C.
Lie, R.T.
Wu-Chou, Y..-H.
Wang, H. 
Ye, X.
Yeow, V.
Chong, S. 
Jee, S.H.
Shi, B.
Scott, A.F.
Keywords: Case-parent trios
Duchenne muscular dystrophy (DMD)
Family-based association
Oral clefts
Issue Date: Apr-2013
Citation: Patel, P.J., Beaty, T.H., Ruczinski, I., Murray, J.C., Marazita, M.L., Munger, R.G., Hetmanski, J.B., Wu, T., Murray, T., Rose, M., Redett, R.J., Jin, S.C., Lie, R.T., Wu-Chou, Y..-H., Wang, H., Ye, X., Yeow, V., Chong, S., Jee, S.H., Shi, B., Scott, A.F. (2013-04). X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts. European Journal of Oral Sciences 121 (2) : 63-68. ScholarBank@NUS Repository.
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. © 2013 Eur J Oral Sci.
Source Title: European Journal of Oral Sciences
ISSN: 09098836
DOI: 10.1111/eos.12025
Appears in Collections:Staff Publications

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