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X‐linked markers in the D uchenne muscular dystrophy gene associated with oral clefts
Author(s) -
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.,
WuChou YahHuei,
Wang Hong,
Ye Xiaoqian,
Yeow Vincent,
Chong Samuel,
Jee Sun H.,
Shi Bing,
Scott Alan F.
Publication year - 2013
Publication title -
european journal of oral sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.802
H-Index - 93
eISSN - 1600-0722
pISSN - 0909-8836
DOI - 10.1111/eos.12025
Subject(s) - snp , single nucleotide polymorphism , genetics , haplotype , gene , duchenne muscular dystrophy , snp array , biology , muscular dystrophy , allele , genotype
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 ( SNP s) 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 SNP s in the DMD gene identified four SNP s together that attained genome‐wide significance among Asian CL /P trios, raising the possibility of interaction between distant SNP s within the DMD gene.