A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Beaty, Terri H; Melbye, Mads; Murray, Jeffrey C; Marazita, Mary L; Munger, Ronald G; Ruczinski, Ingo; Hetmanski, Jacqueline B; Liang, Kung Yee; Wu, Tao; Murray, Tanda; Arcos-Burgos, Mauricio (Oscar); Cooper, Margaret E.
Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 × 10-11; and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 × 10-12) and two previously identified regions (at chromosome 8q24 and IRF6) attained...[Show more]
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