Ji-Hyeon Lee, Sung Man Bae
The Relationship between Smartphone Use Motives, Social Capital, Digital Literacy, and Life Satisfaction in Elderly Koreans
Iranian journal of public health
one common structural birth defects orofacial clefts ofcs studied decades recent studies demonstrated genetic differences different phenotypic presentations ofcs however contribution rare genetic variation genomewide different subtypes ofcs understudied studies focusing common genetic variation rare variation within targeted regions genome therefore used wholegenome sequencing data gabriella miller kids first pediatric research program conduct genebased burden analysis test genetic modifiers cleft lip cl vs cleft lip palate clp found significantly increased burden rare variants sec24d cl cases compared clp cases p 686 formula see text 107 15 variants within sec24d 533 synonymous overlapped known craniofacial enhancer tested whether variants could alter predicted transcription factor binding sites tfbs found rare alleles destroyed binding sites 9 transcription factors tfs including pax1 p 00009 created binding sites 23 tfs including pax6 p 612 formula see text 105 pax9 p 00001 known involved normal craniofacial development suggesting potential mechanism synonymous variants could functional impact overall study indicates rare genetic variation may contribute phenotypic heterogeneity ofcs suggests regulatory variation may also contribute warrant investigation future studies genetic variants controlling risk ofc