rs11583072 - PAX7

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study of multiethnic non-syndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes - Unknown journal (n.d.) · Unknown authors · PubMed 35191549

  ABSTRACT: Non-syndromic orofacial clefts (nsOFCs) are among the most common craniofacial birth defects worldwide, and known to exhibit phenotypic and genetic heterogeneity. Cleft lip plus cleft palate (CLP) and cleft lip only (CL) are commonly combined together as one phenotype (CL/P), separately from cleft palate alone. In comparison, our study analyzes CL and CLP separately. A sample of 2,218 CL and CLP cases, 4,537 unaffected relatives of cases, and 2,673 pure controls with no family history of OFC were selected from the Pittsburgh Orofacial Cleft (Pitt-OFC) multiethnic study. GWASs were run for seven specific phenotypes created based on the cleft type(s) observed within these families, as well as the combined CL/P phenotype. Five novel genome-wide significant associations, 3q29 (rs6228

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