rs113689916 - TRARG1

Magnitude 2.2 · 1 study on file

Reported associations

  • The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation - Unknown journal (n.d.) · Unknown authors · PubMed 33692830

    ABSTRACT: Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate (NSCL/P) show distinctive facial features. The presence of this facial endophenotype is potentially an expression of underlying genetic susceptibility to NSCL/P in the larger unselected population. To explore this hypothesis, we first partitioned the face into 63 partially overlapping regions representing global-to-local facial morphology and then defined endophenotypic traits by contrasting the 3D facial images from 264 unaffected parents of individuals with NSCL/P versus 3,171 controls. We observed distinct facial features between parents and controls across 59 global-to-local facial segments at nominal significance (p ≤ 0.05) and 52 segments at Bonferroni corrected significance (p <


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