rs10258708 - NXPH1 - GAPDHP68

Magnitude 4.5 · 1 study on file

Reported associations

• The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip - Unknown journal (n.d.) · Unknown authors · PubMed 33817668

  ABSTRACT: Summary Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft-cleft lip (CL) and cleft lip and palate (CLP)-as well as other features, such as the severity of the cleft. Here, we focus on bilateral and unilateral clefts as one dimension of OFC severity, because the genetic architecture of these subtypes is not well understood. We tested for subtype-specific genetic associations in 44 bilateral CL (BCL) individuals, 434 unilateral CL (UCL) individuals, 530 bilateral CLP individuals (BCLP), 1,123 unilateral CLP (UCLP) individuals, and unrelated control individuals (N = 1,626), using a mixed-model approach. While no novel loci were found, the genetic architecture of UCL was distinct compared to B

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.