Orofacial cleft (OFC) is one of the most prevalent birth defects, leading to substantial and\nlong-term burdens in a newbornâ??s quality of life. Although studies revealed several genetic variants\nassociated with the birth defect, novel approaches may provide additional clues about its etiology.\nUsing the Center for Craniofacial and Dental Genetics project data (n = 10,542), we performed linear\nmixed-model analyses to study the genetic compositions of OFC and investigated the dependence\namong identified loci using conditional analyses. To identify genes associated with OFC, we conducted\na transcriptome-wide association study (TWAS) based on predicted expression levels. In addition to\nconfirming the previous findings at four loci, 1q32.2, 8q24, 2p24.2 and 17p13.1, we untwined two\nindependent loci at 1q32.2, TRAF3IP3 and IRF6...............................
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